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ALS is a brutal neurodegenerative disease (PC: York Rehab Clinic) ALS is a brutal neurodegenerative disease impacting the complete mobility of the affected individuals with extreme muscle weakness and loss of voluntary movement. The onset of ALS is a gradual process, and manifests as different stages of ALS based on the severity of the disease and the course of treatment. Let’s understand the different stages of ALS in this article and how it impacts the people living with ALS in this article.   Introduction to ALS What does ALS stand for? ALS, a progressive degenerative disease stands for Amyotrophic Lateral Sclerosis, severely impacting the mobility and muscle control, deteriorating the ability for elementary activities such as eating, speaking, and breathing. Decoding “Amyotrophic Lateral Sclerosis” further, Amyotrophic comes from the Greek language, with ‘myo’ referring to muscles, ‘trophic’ meaning nourishment and ‘A’ meaning without, thereby implying ‘no muscle nourishment’. The word ‘Lateral’ refers to the specific part of the spinal cord containing particular nerve cells responsible for signalling and muscle control. With degeneration of this region, the outcome is scarring or hardening of the specific region, known as ‘Sclerosis’.   Understanding the ALS disease ALS, also known as Lou Gehrig’s disease, has a gradual onset, with the early signs and symptoms mimicking several other neurodegenerative diseases or issues with the muscle, or spine, causing early ALS diagnosis difficult. Generally, ALS diagnosis takes about 12 – 15 months to confirm considering the gap for recovery and process of eliminating other diseases. With the average life span from onset to progressing through different stages of ALS till death is about 3 – 5 years ( 1 ) . This emphasizes the importance of early ALS diagnosis to manage ALS treatment for better life expectancy. While determining the exact cause of ALS is a complicated process, it involves genetic mutations and unusual environmental factors leading to sporadic cases of ALS without a clear cause. While the mechanisms are not clear, the occurrence of abnormal protein levels and neuron damage are observed in the progression of ALS disease. The journey of every patient living with ALS is unique, and the pace of progression can vary for each based on the onset, genetic factors and initiation of treatment.   Summarizing different stages of ALS (PC: ALS News Today) Different stages of ALS ALS onset may present differently for each  affected individual, and the different stages of ALS progression will also change according to the age, genetics, sex and lifestyle in certain cases. ALS diagnosis is typically confirmed once muscle weakness progresses beyond the more subtle preliminary signs. Usually, the average life expectancy of ALS patients is 2 – 5 years after diagnosis. (   2  ) However, with treatment and personalized care tailored to the progression of the different stages of ALS, quality of life can be improved significantly. The different stages can be categorized as early stages, advanced stages and end stages. The early stages of ALS consist of muscle weakness and twitching. The disease progresses with respiratory and motor impairments in the advanced stages, and ultimately leading to complete loss of motor function and respiratory failure in the end stages. Awareness of the different stages of ALS helps caregivers better understand the condition of the person living with ALS (pALS) and support them with informed care choices. Let’s take a closer look at the different stages of ALS and get an overview on managing ALS disease better.   Stage 1: Early Muscle Weakness and Twitching The early stages of ALS have common symptoms indicating muscle weakness and twitching mimicking other diseases. It starts subtly impacting the functioning of arms and legs with difficulty in fine motor tasks such as buttoning shirts. Muscle twitching, cramping, and frequent tripping is also observed in the early stages of ALS. The people living with ALS can also experience muscle stiffness increasing the discomfort and impacting mobility. Some of them can also have minor difficulty swallowing or slurred speech for patients whose bulbar muscles are affected in the early stages of ALS. While recognizing these early signs as ALS diagnosis is challenging, early intervention with medication and physical therapy can delay the disease progression.   Stage 2: Progressive Muscle Weakness The second stage of ALS worsens the muscle weakness and the individual affected finds doing the daily tasks hard. The people living with ALS are struggling with movement, balance, coordination and simple tasks to upgrade their difficulty level. The worsening muscle atrophy and losing strength makes mundane muscle tasks such as walking, standing, controlling hand movement difficult, and individuals can experience frequent falls. The quality of life can be improved by using assisting devices and making it possible to adapt to the changes in mobility. The caregivers need to make care choices considering muscle weakness and atrophy, communication and respiratory issues and decline in physical function.   Stage 3: Intermediate Functional Impairment Progressing through different stages of ALS, the intermediate functional impairment involves significant challenges. With severe muscle weakness and atrophy, mobility is limited, making walking and standing challenging without support. Further, the swallowing and speaking problems have aggravated with increased risk of choking. The people living with ALS may also have weakened muscles causing difficulty in breathing, which leads to exhaustion and shortness of breath doing mundane activities. The quality of life can be enhanced with assistance devices paired with medicine and physical therapy for easy management of ALS.   Stage 4: Advanced Functional Decline This is one of the stages of ALS where the people living with ALS can have independence in mundane and routine activities with assistive devices only. This phase worsens the ability to communicate which can be resolved with using speaking aids. The affected person would require breathing support with aids to manage needs, ensure comfort and safety. The progression of ALS disease can vary from person-to-person based on genetic factors and the age at which the first signs and symptoms appear. When going through the advanced stages of ALS, the assisted devices for mobility, communication and breathing are essential.   Stage 5: Advanced Medical Care One of the advanced stages of ALS, stage 5 requires definite attention of caregivers with advanced medical care for the person living with ALS to function. Beyond the ALS medication and physical therapy, this phase requires caregivers to render emotional support and psychological tapping to motivate the people living with ALS to fight through the brutal challenges of the disease and continue receiving medical care. At this stage, the patient might require feeding tubes to cope with complete chewing impairments.   Stage 6: Severe Impairment The sixth stage is the intermediate phase from advanced to end stages of ALS with severe impairment. The people living with ALS can barely move, with extremely minimal voluntary control, impacting the competence for most functions of the body. Eventually, this leads to muscle paralysis and severe breathing issues. This stage could last from a few weeks to months, based on the specific progression of the disease. The respiratory functioning is critically damaged, swallowing is also impossible, leading to complete dependence on feeding tubes. The people living with ALS might have cognitive function, but complete physical dependence on the caregivers with 24*7 intervention. The objective at this stage is to mentally support the affected patients and improve their quality of life.   Stage 7: End-Stage ALS The end stage of ALS remarks complete loss of mobility, leading to muscle paralysis and respiratory failure. The people living with ALS can only control eye movements for communication. The patients are completely dependent on life-sustaining support and interventions such as ventilators and feeding tubes. All the stages of ALS lead to the end-stage with life expectancy for ALS patients limited to a few months till complete respiratory failure causes death.   Conclusion ALS is a brutal neurodegenerative disease impacting the mobility of the affected people, taking away complete voluntary control with the declining progression of the disease. When ALS diagnosis is confirmed, it is crucial to understand the stages of the disease with the current condition for personalized care options. The early stages of ALS cause muscle weakness and twitching. The condition worsens in the advanced stages of ALS with respiratory and motor impairments, eventually leading to complete loss of voluntary functions, respiratory failure and muscle paralysis by the end-stage. The different stages of ALS require personalized intervention based on the gradual decline in health and response to treatment – physical therapy and ALS drugs. As ALS disease progresses further, assisted devices are required for communication, feeding, mobility and ultimately to support respiratory function.

Leveraging Tofersen for SOD1 ALS treatment INTRODUCTION: The advancements in  ALS treatment particularly for genetic forms like SOD1 ALS have opened new avenues for disease stabilization and functional recovery. Tofersen, an antisense oligonucleotide therapy, is at the forefront of this transformation, showing promise in reducing neurofilament levels, slowing disease progression, and improving certain patient outcomes. Alongside pharmaceutical interventions, neuromuscular rehabilitation is emerging as a vital component of the care paradigm, potentially reshaping how we approach recovery in ALS. Through expert insights from leading clinicians at institutions like WashU, this article explores key questions around diagnostics, functional assessments, and whether therapies like Tofersen could revolutionize ALS treatment—not just for SOD1 but potentially for broader ALS populations as well. FEATURED QUESTIONS:  Are neurofilament levels routinely measured by neurologists in ALS clinics in the U.S., and should neurofilament testing be considered a standard part of ALS patient evaluation?  It’s not a standard of care at the moment. And, here in the neuromuscular lab under Dr. Robert Bucelli, we have been measuring serum neurofilament since 2021, and most of the attendings here have adopted it as a relatively good biomarker to use when patients come in for evaluation of ALS. There are some caveats, as it may not be elevated in all patients. And, so, it’s not a single test to be able to confirm ALS diagnosis. It needs to be taken in the context of the clinical exam, the clinical history of progression of weakness, excluding other diagnoses that can mimic ALS. I strongly advocate for testing for all my patients in the initial stages, as well during long-term follow-up as well.  Has there been any instance of a person with genetic forms of ALS, such as SOD1 or FUS mutations, who lost the ability to speak and then regained speech following successful treatment?  Not that I am aware of. None of our patients have significant speech changes. Some of the research studies conducted by EverythingALS highlight speech changes and I think some of the recent trials are including software or applications to do that. We haven’t heard of any patient living with ALS with an SOD1 gene receiving Tofersen with chewing or swallowing issues. Some with respiratory issues include the need  to be on non-invasive ventilation. This might not be a fair comparison, considering representation of the whole ALS population, but following the data, there are definite possibilities to improve functioning in patients living with ALS undergoing disease stabilization therapy.  What do you make of the recent data published from various Italian EAPs? While I am not familiar with this publication, there are several studies cited in our research papers that showed similar results of Tofersen in the clinical setting or real-world setting, which depicts significant reduction in the neurofilament levels, maintenance of function, with some patients potentially having continued progression at a slower rate, and some patients showing improvement. Nearly 20-25% of the patients show some degree of improvement. It is to be noted that all of our patients living with ALS have elevated inflammatory attributes (factors) in the spinal fluid. There is no clinical correlation for this, and there are no patients who have experienced severe side effects due to Tofersen. These include increased intracranial pressure, increase in the spinal fluid, radiculitis, or inflammation of the nerves or spinal cord.  When standardized (e.g., converted to Z-scores), do functional outcome measures like the ALSFRS-R and FIM show consistent effect sizes post-Tofersen treatment?  Yes. The sample size of participants was very small, estimated to be around 7. We lacked longitudinal data for one of the participants to report on. The studies were oriented to descriptive statistics over inferential statistics, implying that we are trying to present the data collected over making comparisons. So, FIM, as in functional independence motor score, has been leveraged in several ALS research studies. There is a correlation between FIM motor score and a decline in the ALSFRS overtime with disease progression. It has not been used to monitor for functional improvement in patients living with ALS undergoing disease stabilizing therapies. We are the first paper to present the possibility of using this as a measure in comparison to ALSFRS, and it seems to be more sensitive to patient improvement and functional independence than ALSFRS. The focus as a team is to conduct a larger study with funding.  I have SOD1 but no one in my family has ALS disease. It is interesting that 6 out of 7 in the study similarly had no family member with ALS. Can you explain why, since I was told by the genetic counselor that the mutation is dominant?  Yes, it is interesting that 6 out of 7 had no clear family history of ALS. The majority of the mutations in SOD1 are dominantly inherited. At some point, without a family history, it’s possible for an individual to be the first to develop the mutation. So, there is not much clarity as to why an individual would develop that specific mutation in SOD1. However, we are going to continue to learn more about genetics. The study we conducted highlights the potential of differential response, based on the type of genetic mutation. This highlights a need within ALS research to better identify which patients may or may not benefit from Tofersen, or may not need additional treatment options to fully stabilize their disease.  Given increased cardiovascular risk in ALS disease, how does your program take these risks into account, specifically the maximum heart rate to determine the exercise targets.  Typically, our programs start relatively conservatively and we use low-to-moderate intensity. Presently, the neuromuscular literature indicates between 50 – 70% of the heart rate reserve. Heart rate reserve is a calculation which is based on the individual’s resting heart rate and age, which generates an individualized baseline. We will start by using 50-70% of that maximum and also use the rate of perceived exertion. For individuals with higher respiratory involvement, we have a breathlessness scale for self-monitoring. Furthermore, there are continuous heart rate and oxygen monitors when capacity is measured. During the 10m walk and the 30 seconds sit-to-stand test, we are also monitoring physiologic response and administering a dose based on the tolerance levels, but in general, we have been starting folks conservatively in the 50-70% range. However,individuals have also progressed to the moderate-vigorous range (70-85%). Generally, we use the cardio or heart rate response as a gauge of neuroplasticity and neuromuscular control.  In the context of ALS clinical assessments which you shared, when performing the 10-Meter Walk Test (10mWT), is the test typically conducted with the participant wearing their orthotic devices, or without them?  Yeah, we have done a measure for both. It depends on the individual, and we try to make it a day-to-day activity in their real life. For the patients living with ALS wearing their orthotic devices, I highly encourage them and mention the same in prescriptions for improved safety and control. All the measures are a great gauge, but they are typically capacity measures. It helps us get a baseline, get a measure, help prescribe the activity, discuss safety recommendations such as orthotics, wear, and use. But, one area that can be specifically improved is getting performance measures and tracking activity outside of therapy to understand how the rehab is influencing those individuals outside of the measures we are seeing right in front of us.  What are the broader implications for other forms of ALS outside of SOD1? What is the perspective concerning drug development care paradigms as well as rehabilitation programs?  It’s kind of limited right now. There’s a minimal amount of information on how to do neuron muscle rehab for a patient with ALS whose disease has stabilized. The goal is for multiple drugs or treatments to be made available to help any patient with any form of ALS to reach disease stabilization. At that point, the question is how can we get the function back? I think it’s going to take a lot more than only treatment for patients to have recovery and live with ALS. And, so, we are building the foundational knowledge of what that would look like. It’s a pretty decent step in the right direction that patients on a disease stabilizing treatment like Tofersen right now can participate in neuromuscular rehab for extended periods of time and do it safely. We can progress them, whether that is through resistance exercise with different weights, or increasing their walking program using technology available to help mobility. There is a definite need for extensive research on this subject and hopefully when substantial treatment is available, we can implement the knowledge for patients living with ALS rather than waiting.  When we look at the biggest body of evidence right now within neuromuscular rehab, it’s typically within stroke rehab. We are observing that, with the right dosage of therapy, when patients are in a medically stable position, high intensity rehab can be greatly effective in improving motor function, even years after the initial stroke. This model gives us hope that we can change the current model from low-to-moderate, shifting focus from maintenance in ALS disease management to neuroplasticity and improvement of function.  During the sit-to-stand test in your protocols, is the use of arms to assist in pushing oneself up from the chair allowed or expected?  The standardized assessment is without upper arm assistance. However, there are some patients living with ALS who are unable to perform that, so we allow them to use arm assistance because that is expected as a means to get out of the chair for long-term, based on their current status.  Are the patients in your study just those who go to WashU’s clinic or do you get data from other hospitals (eg. Mass General Hospital)?  Presently, it is an internal study of patients only at WashU who recurrently follow-up in our clinic and are receiving the Tofersen dosing here. It’s unfunded right now. The ALS center and a bunch of other individuals who are highly devoted to seeing patients improve are actively working on the study. Our work with the patients is very goal-oriented and is focused on their routine activities, and we would like to expand this approach. We have submitted some grants to that end and we are still waiting for funding opportunities in the near future.  What was the time between first and second measurements of function?  With reference to the FIM score, we have been keeping all the functional measures for those we have been taking out on a monthly basis. The other ones shown in the slides with the graph consisted of the most recent Tofersen dose, and varied for all the patients over time. For instance, one patient living with ALS was on Tofersen for over 7 months and his FIM score improved from 86 to 89. Another patient living with ALS was on Tofersen for 30 months and had improvement from 86 to 89. So, we are seeing it in the short-term as well as analyzing the functional gains that are retained for a significant period of time.  I'm pre-symptomatic SOD1 L145F variant, which excluded my participation in ATLAS. Back when ATLAS was rolling out recruitment, I spoke to Dr. Bucelli and he mentioned that WashU was "looking at possibly doing a mirror study" of ATLAS. Are you aware of any recent new discussions of such a study? Yes. For the unversed, ATLAS is a study in presymptomatic individuals with SOD1 mutations. They have limited the ALS research study for certain variant mutations, that’s what the question was addressed to. When there’s a change in the neurofilament level, when it increases or if an individual becomes asymptomatic with weakness, it’s potentially starting very early Tofersen treatment in the hopes of delaying the onset of ALS disease or even preventing the onset. So, that ALS research study is still ongoing, and we are not yet able to share data publicly. Hopefully, the study will have promising results and there’s potential looking at the broader implications that – the sooner we confirm ALS diagnosis, especially the genetic form or hereditary, ALS treatment can be initiated promptly. During the time when symptoms of ALS start showing up, there could be a possibility that we can prevent the onset of ALS disease, which could be amazing.  I am not aware of any kind of mirror study, but I will definitely pass that along to Dr. Bucelli and let him know about the question.  Why can’t non gene mutation patients be offered the rehabilitation program at their own discretion?  [I wasn’t offered any PT during the first 3 years of a clinic setting but pursued a clinic setting that agreed to let me try! Can this not be a patient/clinic discussion and decision, not a blanket statement? Every good day is a joy, let us have our days]  We actually recommend rehab programs for all of our ALS patients we see. The difference in ALS treatment here is the dosage and how those programs are tailored. There is good evidence for low-to-moderate intensity exercise, but we really recommend working with individuals or therapists familiar with ALS disease progression, because it can be a tough balance to titrate those programs appropriately. There is a risk for muscle overuse and further muscle decline. The biggest thing is, when you are strengthening muscle, it can break down those muscle fibers. In healthy individuals, they typically grow stronger. For patients with ALS that are not on disease stabilizing medications, that poses a risk that we want to monitor. Exercise can still be appropriate, as long as it's dosed well and individualized to that person. Here at WashU, we do work with all of our patients living with ALS, it’s just the difference in the dosage. Basically, making sure the program that is prescribed for the patients is monitored and changed over time. We have individuals that come in monthly, 3 months, 6 months, or other frequencies to ensure that the program that they have been given is tailored to their needs. Ultimately, the ALS treatment approach is goal-oriented, and it’s personalized to what they want to be able to do, with the goal of enhancing their quality of life.  Do you have exercise programs for patients with ALS at different stages and fitness levels? What are recommendations for patients who don’t have access to your clinic? Yeah, a really good resource, free for clinicians and patients is the Academy of Neurologic Physical Therapy. It’s all neurologic-specialized physical therapists, and so there is literature and evidence-based practices for guidelines on low-to-moderate exercise. I still highly recommend working with a therapist who specializes in ALS so that they can test and measure patients with ALS for their functional capacity. There’s also another website called ‘Choose PT’ where you can search for a physical therapist  who specializes in ALS in your area Do you see Toferson being used prophylactically? The ALS research study conducted by ATLAS is hoping to answer whether it is possible to treat someone who has not yet developed the symptoms of ALS but has increased levels of neurofilament, and if so, to understand the potential clinical benefits. After the completion of the study, it will give us a lot more information on how to best use Tofersen in treatment of SOD1 ALS. There’s also some interesting research in sporadic ALS that SOD1 protein misfolds and contributes to the pathology of ALS. It would be interesting to study the use of Tofersen in non-SOD1 ALS patients and look for any prevalent benefits.  CONCLUSION: The growing clinical research studies around Tofersen and neuromuscular rehabilitation is signaling a critical shift in ALS treatment options. From proactive biomarker testing like neurofilament levels to individualized exercise protocols, care is becoming more patient-centered and precision-driven. While genetic therapies like Tofersen are currently specific to SOD1 ALS, the insights gained are paving the way for broader applications. The future of ALS treatment may lie in early detection, personalized rehab, and a multidisciplinary approach that combines medical and functional care. With continued research and collaborative innovation, there’s real hope for improved quality of life and recovery potential in patients living with ALS.

Amyotrophic Lateral Sclerosis (ALS), also commonly known as Lou Gehrig’s disease, is a gradual neurodegenerative disease which causes the nerve cells in the brain to deteriorate. Initially impacting the arms and legs or having changes in speech, ALS disease causes extreme muscle distress and severely affects mobility, speech, swallowing, breathing, and muscle control, leading to progressive physical disability. Let’s take a closer look at the process of ALS diagnosis, highlighting the tests, symptoms, and key procedures.  What Is ALS and Why Is Diagnosis Important? ALS is a brutal neurodegenerative disease that gradually strips away the ability to eat, speak, move, and breathe, casting a dark shadow with its fatal prognosis. Overview of Amyotrophic Lateral Sclerosis (ALS): ALS disease can have a debilitating impact on physical health by damaging the motor neurons in the brain and spinal cord, which manage voluntary movements and muscle control (balancing relaxation and contraction). ALS causes progressive deterioration and death of these motor neurons, thereby causing the brain to cease the initiation and controlling of muscle movement. This impacts the ability of the person living with ALS (pALS) to chew, swallow, speak, and breathe. ALS symptoms appear gradually, and manifestation of symptoms can vary from person to person. Initially, ALS often begins with muscle twitching, which could appear as difficulty grabbing a pencil, lifting a water bottle, or changes in speech. This leads to progressive weakness in limbs, trouble swallowing, and difficulty in speech. The average life expectancy for people living with ALS is typically between 2 – 5 years after diagnosis, but some may live for  5 – 10 years or longer, depending on the progression of the disease.  The Importance of Early and Accurate ALS Diagnosis In many cases, people living with ALS are diagnosed after the disease has progressed to advanced stages. This often means they experience functional impairment and may miss the opportunity to benefit from treatment that could potentially improve their life expectancy of ALS. Although there are no specific diagnostic tests, ALS diagnosis typically follows a certain process, based on clinical symptoms and comprehensive evaluation to enable early intervention.  According to studies in the U.S., the duration from the first ALS symptom to a confirmed ALS diagnosis takes about 11 - 15 months. This timeline includes a process of elimination, with a minimum of 3 - 4 consultations with different healthcare professionals, which may include orthopedic surgeons, spinal specialists, chiropractors, and neurologists, which eventually lead to an ALS specialist. With timely ALS diagnosis, there is a higher quantity of healthy motor neurons in the spinal cord and brain, providing a window of time to modify ALS disease progression with experimental drugs and other novel treatment options. With early ALS diagnosis, people living with ALS tend to maintain better motor function, while the underlying cause of the disease is investigated. Early intervention also supports caregivers and families by easing some financial and emotional burden.  Common Symptoms Leading to ALS Diagnosis Although ALS diagnosis can take significant time, documenting and evaluating the early symptoms can accelerate the treatment process.  Signs and Symptoms of ALS Generally, ALS symptoms may differ among individual cases, based on the nerve cells impacted. It often begins with muscle weakness which progressively worsens, leading to a complete loss of mobility as the disease progresses through its stages. Some of the early signs and symptoms of ALS are as follows: Difficulty walking or doing routine activities. Stumbling and falling during movement. Experiencing weakness in the feet, legs or ankles. Weakness in the arms or hands, causing clumsiness. Difficulty swallowing and slurred speech.  Changes in thinking and behavioral patterns. Lack of control while laughing, yawning, or crying.  Muscle cramps and muscle twitching, especially in the arms, shoulders, feet, and tongue.  Early symptoms of ALS can sometimes be isolated to the feet, legs, hands, or arms. As the different stages of ALS progress, it starts affecting other organs in the body. ALS continues to worsen, eventually leading to an inability to do basic activities such as chewing, breathing, and speaking. The disease is so brutal that the person living with ALS can be paralyzed at advanced stages.  ALS symptoms leading to ALS diagnosis (PC: ALS News Today) When to Seek Medical Evaluation for ALS Symptoms If you are experiencing consistent muscle weakness, cramps, unusual exhaustion, or frequent dropping of objects during physical activity, it is important to seek medical evaluation. Prompt evaluation is critical to early ALS diagnosis, which may allow pALS to benefit from treatment, to ensure timely interventions for ALS treatment with required drugs or medication and other forms of therapy. The gradual progression of ALS disease may aggravate conditions with worsening symptoms, causing progressive muscle atrophy, extreme muscle distress, and weakness. If you, or someone you know, is experiencing muscle weakness, difficulty with everyday tasks, or changes in speech or ability to eat,  please seek medical evaluation.  Next steps after ALS diagnosis (PC: ALS News Today) Tests for ALS Diagnosis ALS diagnosis can be a difficult process, as early symptoms can resemble other neurodegenerative diseases. The following tests may be given as part of a comprehensive medical evaluation for early ALS diagnosis are: Electromyography  This test involves inserting a thin needle through the skin into specific muscles. Electromyography predicts ALS diagnosis by documenting the movement of muscles during contraction and relaxation. The records can help determine if the person has any nerve or muscle damage, as well as the specific location and intensity.  Nerve conduction study Nerve conduction study evaluates the ability of the nerves to issue signals to the muscles, helping to determine nerve conditions within different organs. ALS diagnosis can be confirmed with prevalent nerve damage. Generally, both electromyography and nerve conduction study are conducted together with samples from limb,  bulbar, and thoracic locations.  MRI Magnetic Resonance Imaging (MRI) scans offer intricately detailed and structured images of the spinal cord and the brain. With advanced MRI techniques, such as diffusion tensor imaging (DTI), it is possible to analyze very miniscule changes, such as white matter integrity, particularly in the corticospinal tract. This test may detect ALS diagnosis even before the other clinical signs. The MRI can detect tumors in the spinal cord, presence of herniated disks in the neck, and other changes in the body which indicate ALS symptoms or other neurodegenerative diseases. Blood and urine testing With a series of blood and urine tests, it is possible to rule out other conditions which share common ALS symptoms. ALS diagnosis can be detected through blood tests which show high levels of neurofilament light (NfL). The rise in NfL levels implies rapid degeneration of the neurons, making it a valuable biomarker for diagnosis of ALS disease. Spinal tap The spinal tap, or lumbar punction test involves extracting spinal fluid for laboratory testing. During the test, a small needle is inserted between two bones situated in the lower back, and spinal fluid is collected through the needle. Usually, the cerebrospinal fluid (CSF) of people living with ALS does not contain specific abnormalities that confirm ALS diagnosis. The CSF usually appears normal or has minimal changes, so lumbar puncture or spinal tap cannot directly confirm ALS disease, but examining CSF can indicate other conditions or diseases which are similar to the ALS disease. Test results can vary, sometimes showing a rise in protein concentration or an increase in albumin or IgG levels, which suggests a potential blood-brain barrier damage in ALS disease.  Nerve and muscle biopsy Nerve and muscle biopsies are not recommended for preliminary ALS diagnosis, but can help in the process of eliminating other conditions. During the procedure, small pieces of nerve/muscle tissue are collected for further laboratory analysis. These tests are generally ordered when clinicians suspect a muscle or nerve disorder, particularly with unusual weakness, pain or high levels of creatine kinase (CK).  Genetic testing Genetic testing plays a crucial role in ALS diagnosis, as it can identify mutations linked to familial ALS. The test involves collecting a blood sample and analyzing it using techniques, such as next-generation sequencing, which allows for the  simultaneous analysis of multiple genes related to ALS. The key genes tested for ALS diagnosis include C9orf72, SOD1, FUS, and TARDBP, and some other genes may be examined, according to clinical assessment, family history and ethnicity.  Conclusion  ALS is a brutal neurodegenerative disease which impacts voluntary movement and muscle mobility of the person, with gradual onset varying according to the intensity of the deteriorating neurons. The progression of the ALS disease can vary across individuals, and symptoms of ALS may manifest differently according to the different stages of ALS. ALS diagnosis is a complex process, which often involves a combination of different tests, from clinical evaluation, neurological tests, and other lab assessments. Early and accurate diagnosis is essential for timely intervention, effective management, and improved quality of life for people with ALS. Digital biomarkers studied by EverythingALS aim to simplify the diagnostic process, potentially enabling earlier intervention and improved outcomes.

Pateint Impact Stories In the News NOVEMBER 2022 Digital Biomarkers Could Reshape CNS Diagnosis, Treatment The life sciences industry continues to embrace artificial intelligence (AI), algorithms, and machine-based learning in its pursuits to collect and analyze important pharmaceutical and healthcare data. READ MORE NOVEMBER 2022 Digital Biomarkers Could Reshape CNS Diagnosis, Treatment The life sciences industry continues to embrace artificial intelligence (AI), algorithms, and machine-based learning in its pursuits to collect and analyze important pharmaceutical and healthcare data. READ MORE NOVEMBER 2022 Digital Biomarkers Could Reshape CNS Diagnosis, Treatment The life sciences industry continues to embrace artificial intelligence (AI), algorithms, and machine-based learning in its pursuits to collect and analyze important pharmaceutical and healthcare data. READ MORE NOVEMBER 2022 Woman's Husband's Health Journey Inspires EverythingALS. NBC10’s Erin Coleman speaks to Everything ALS founder Indu Navar about her husband’s own ALS diagnosis and how the group is working to better ALS research. READ MORE NOVEMBER 2022 Walk to Defeat ALS happening in North Las Vegas. Indu Navar, founder of EverythingALS, joined us to talk about how your participation helps raise funds and awareness. READ MORE NOVEMBER 2022 Non-profit conducts study to diagnose ALS quicker. In the 150 years since ALS was discovered there is still no cure or single test to diagnose the disease. READ MORE NOVEMBER 2022 New technology helping ALS patients in Louisiana. ALS, often called Lou Gehrig’s disease, is a progressive motor neuron disease that gradually robs people of their ability to walk, talk, swallow, and eventually breathe. READ MORE SEPTEMBER 2022 Q&A With Indu Navar, founder of Everything ALS. Indu Navar, founder of Everything ALS, speaks with Pharm Exec about how she lost her husband to the disease and how she's trying to improve the way its diagnosed. READ MORE SEPTEMBER 2022 EverythingALS Joins Forces with Aural Analytics, FeetMe, ZEPHYRx and Others for a First-Of-Its-Kind ALS Research Study. Patients can now apply to participate in citizen-led multi-modal digital biomarkers study for prognosis and diagnosis of ALS. READ MORE AUGUST 2022 Groundbreaking research involving artificial intelligence could diagnose ALS patients sooner Five thousand people in the U.S. are diagnosed with a neurological disease called ALS every year. Medical experts say it typically takes an average of two years to diagnose, but new research will likely make that timetable a lot shorter. READ MORE AUGUST 2022 NeuroSense Joins EverythingALS Open Innovation Consortium; Set to Enroll US and EU Patients in Phase IIb Study EverythingALS , a patient-focused non-profit that brings together patients, caregivers, physicians, researchers, and pharmaceutical companies using technological innovations and READ MORE AUGUST 2022 ‘Death by 1,000 cuts:’ How emerging tech could change the journey for ALS patients In 2016, Indu Navar’s husband, Peter Cohen, experienced the first symptom of what turned out to be amyotrophic lateral sclerosis (ALS), a progressive degenerative disease commonly known as Lou Gehrig’s disease. READ MORE JULY 2022 Healthbeat: New ALS research driven by patient-focused non-profit SCRANTON, LACKAWANNA COUNTY— New research is underway to better understand and treat ALS, a difficult disease to diagnose with no known cure. ALS patient Paul Miller of Scranton is one of the participants. READ MORE JULY 2022 Bentonville man works to help diagnose ALS sooner BENTONVILLE, Ark. (KNWA/FOX24) — A Bentonville man is dedicating his life to advocating for people with ALS and trying to help diagnose the disease sooner. READ MORE JULY 2022 These 2 Surprising Traits May Predict ALS, New Research Says Amyotrophic lateral sclerosis (sometimes called Lou Gherig’s disease, or ALS ) affects around 15,000 Americans, with about 5,000 receiving a new diagnosis each year, according to the Centers for Disease Control and Prevention READ MORE JUNE 2022 Continue that momentum from the ALS Ice Bucket Challenge by getting involved in a unique study - New Day NW Researchers want every American to start recording their voice daily. They believe this data could be used to eventually develop cures for Alzheim READ MORE MAY 2022 Patients giving voice to ALS research Back in 2014, millions of people poured icy water over their heads to spread ALS awareness and support research for the devastating neurodegenerative disease. Now tech developers want to hear your voices. READ MORE MAY 2022 Live At 9: Researchers Collecting Audio and Video to Help ALS Detection Remember the summer Americans took time to dump buckets of ice water on their heads to help fight the deadly disease ALS? This summer, there’s a more comfortable way to help researchers learn about ALS and other neurological disorders. READ MORE MAY 2022 A Connecticut man is battling a fatal disease with ‘enormous courage’. Love and his work with an ALS group give him ‘purpose’ Three years ago Austen Eadie-Friedmann, 38, had a dynamic career in the pharmaceutical/biotech field working for a Fortune 500 company and living in exciting places such as New York City, Boston and Europe, with his husband, William DeGregorio. READ MORE FEBRUARY 2022 San Francisco based nonprofit launches new ALS research A San Francisco-based nonprofit is recruiting average people to take part in ALS research KCBS Radio’s Keith Menconi explains. READ MORE FEBRUARY 2022 Mitsubishi Tanabe Pharma joins EVERYTHINGALS consortium to help accelerate biomarker discovery for Neurological diseases February 28, 2022 (San Francisco, CA) -- Today, EverythingALS.org (EALS), a patient-centric, citizen-based California nonprofit accelerating the discovery of digital biomarkers for neurological diseases such as amyotrophic lateral sclerosis (ALS), announced that Mitsubishi Tanabe Pharma Holdings America, Inc. READ MORE DECEMBER 2021 ALS, Lou Gehrig’s Disease, takes many lives, Everything ALS is doing Deb Fabricatore lost her younger brother to ALS in 2014, and became involved in ALS advocacy. Indu Navar lost her husband in 2019 and immediately stepped up into action by building a nonprofit devoted to honoring her husband. READ MORE NOVEMBER 2021 Open-Data Platforms for Direct Engagement with Patients, Researchers, and Pharma Indu Navar, CEO and Founder of EverythingALS, explores the roles of Artificial Intelligence, Machine Learning, and Brain Computer Interface in the search for a cure for ALS. She will also share innovative research studies on ALS detection, how Pharma can work with and support ALS patient advocates, and her key leadership lessons for digital health entrepreneurs and innovators. READ MORE NOVEMBER 2021 Bay Area Nonprofit Seeks 300 Volunteers in ALS Speech Study SAN FRANCISCO (CBS SF) -- A Bay Area nonprofit dedicated to advancing research on an incurable -- and fatal -- disease of the nervous system is looking for 300 more people by the end of this month to participate in the largest-ever research project on the illness. READ MORE OCTOBER 2021 EverythingALS Launches “Stories and Innovation in ALS” Podcast October 21, 2021 (Silicon Valley, CA) – For an inside look at how ALS impacts patients and their caregivers as well as the innovations that researchers and clinicians are coming up with to find biomarkers, treatments, and cures for this life-threatening disease, start listening to the EverythingALS podcast , READ MORE JULY 2021 Episode 30: Machine Learning for a Cause Canada has been an early leader in the AI space and there is no shortage of activity flourishing across the country. Today, we welcome Fanny Sie from Roche Canada and Indu Navar of Everything ALS to talk about machine learning and the End ALS Kaggle Challenge . READ MORE JULY 2021 New project to better identify and treat ALS uses AI and data sharing I n health, science begins with the patient. Roche believes that the only way to improve the way Canadians access care is by working with all stakeholders, including public and private organizations, patient communities and citizens. READ MORE APRIL 2021 Richard Sperry, Head of Research Partnerships and Collaborations at EverythingALS Richard Sperry, Head of Research Partnerships and Collaborations at EverythingALS, speaks about the use of biomarkers to better understand the progression of ALS. With the help of artificial intelligence, EverythingALS and their partners, Modality.ai, are tracking speech patterns to add to an expanding collection of ALS research. READ MORE APRIL 2021 EverythingALS Selected to Present at the American Academy of Neurology Annual Meeting, April 17-22 April 16, 2021 (Los Altos, CA) – EverythingALS, a California nonprofit dedicated to bringing technological innovations and data science to support people with ALS, has been selected to present its scientific research at the American Academy of Neurology (AAN) READ MORE APRIL 2021 Accelerating Rare Disease Research | Indu Navar | TEDxSantaCatalinaSchool n this moving, personal talk, Indu Navar tells how she lost her husband, Peter Cohen, to ALS and what she is doing to bring together patients, families, researchers and people everywhere to change the way that rare diseases are looked at. READ MORE MARCH 2021 The Story of Modality.AI: HealthTech Award Winner HealthTech Networking Club member and winner of the HealthTech Startup Award in January David Suendermann-Oeft, CEO and Founder of Modality.AI , spoke with the bene : studio team about what inspired him to start the company, their biggest achievements so far, and advice for startup leaders in the digital health space. READ MORE MARCH 2021 ‘End ALS Challenge’ Invites AI Community to Tackle 3 Key Questions Roche Canada’s Artificial Intelligence Centre of Excellence (AI CoE), in collaboration with Answer ALS and EverythingALS , opened a challenge that asks the global artificial intelligence (AI) community to model solutions for key questions in amyotrophic lateral sclerosis (ALS). READ MORE MARCH 2021 Roche Canada AI Centre to tackle ALS MISSISSAUGA, Ont. – The Roche Canada Artificial Intelligence Centre of Excellence (AI CoE) is excited to collaborate with Answer ALS and EverythingALS to launch an initiative called the End ALS Challenge, with the support of ALS Society of Canada, Ontario Brain Institute (OBI) and NetraMark Corp. READ MORE MARCH 2021 Roche Canada Artificial Intelligence Centre of Excellence opens digital competition to tackle ALS MISSISSAUGA, ON, March 18, 2021 /CNW/ - The Roche Canada Artificial Intelligence Centre of Excellence (AI CoE) is excited to collaborate with Answer ALS and EverythingALS to launch an initiative called the End ALS Challenge , with the support of ALS Society of Canada , Ontario Brain Institute (OBI) and NetraMark Corp READ MORE MARCH 2021

Co-hosted by: Future of Digital Biomarkers Summit August 10th & 11th, 2025 We are excited to host our third annual Digital Biomarkers and Endpoints Summit Agenda Attendees Location Monday, August 11th 2025 Agenda Johnson & Johnson - 320 Bent St, Cambridge, MA 02141 View Agenda Anchor 7 View Agenda Attendees & Speakers Anchor 6 Consortia Members Lead Scientific Collaborators Strategic Partners Eveything ALS Team Eric William Dane Award-Winning Actor Television & Film Performer Eric William Dane is an award-winning American actor from San Francisco, California, celebrated for his dynamic performances in both television and film. He is best known for his portrayal of Dr. Mark Sloan—nicknamed “McSteamy”—on the long-running ABC medical drama Grey’s Anatomy, a role that earned him a Satellite Award and a Screen Actors Guild Award as part of the ensemble cast. Dane further demonstrated his versatility as Captain Tom Chandler in the post-apocalyptic series The Last Ship and as the emotionally complex Cal Jacobs in HBO’s critically acclaimed drama Euphoria. With a career spanning more than two decades, Dane has become known for infusing every role with intensity, charisma, and depth. His performances consistently resonate with audiences and critics alike, cementing his place as one of contemporary television’s most compelling actors. Off screen, he continues to pursue roles that challenge convention and showcase his impressive emotional range. Learn More Anchor 3 Fiona Elwood, Ph.D Vice-President, Disease Area Lead, Neurodegeneration Johnson & Johnson Fiona Elwood is Vice President and Neurodegeneration Disease Area Leader at Janssen R&D. She specializes in tau biology and neurodegenerative research, leveraging human cell models and advanced screening for target discovery. Previously, she was Interim Global Head of Neuroscience at Novartis. Elwood holds a PhD in neuroscience from the University of London and completed her postdoc at Stanford. Charmaine DeManuele, Ph.D Vice-President, R&D Data Science & Digital Health Johnson & Johnson Charmaine Demanuele, Ph.D. is Vice President of R&D Data Science & Digital Health at Johnson & Johnson Innovative Medicine. She leads global efforts to apply AI, machine learning, and real-world data in early clinical development, with a focus on digital biomarkers, predictive analytics, and trial-enabled digital endpoints for neuroscience and rare diseases. Previously, she held senior roles at Pfizer, advancing AI/ML and decentralized trial strategies. Nicholas Seneca, Ph.D Scientific Director, Precision Medicine AbbVie Nicholas Seneca, Ph.D. is Scientific Director of Precision Medicine at AbbVie, where he leads biomarker integration and translational science in clinical development. With expertise in neuroscience, molecular imaging, pharmacology, and trial design, he focuses on identifying patient subgroups for targeted therapies. Prior to AbbVie, he held roles at Novartis and PMOD Technologies, contributing to biomarker-driven drug development. His work advances personalized medicine through data-driven insights and cross-functional collaboration. Josh Cosman, Ph.D Director, Digital Health Strategy AbbVie Josh Cosman, Ph.D. is an interdisciplinary neuroscientist with two decades of experience developing neurophysiological and behavioral markers of cognition and motor function in aging and neurological disorders. Over the past ten years, he has led biomarker and functional marker development in both digital health and pharma, using scalable tools and consumer devices. He also serves as Industry Co-Director for the Critical Path for Parkinson’s Digital Drug Development Tools consortium and is active in several pre-competitive digital health and translational neuroscience initiatives. Bryan Boggs, Pharm.D. Head of Regulatory Affairs Acurastem Brian Boggs is a seasoned Regulatory Affairs executive at Acurastem, guiding regulatory strategy for novel neurodegenerative therapies. With over 20 years of experience, he previously served as VP of Regulatory Affairs at QurAlis, leading global IND/CTA filings and regulatory engagement. At Acurastem, he ensures regulatory readiness for early-stage ALS programs. Joel Schwartz, Ph.D Scientific Director - Digital Biomarkers Bristol Myers Squibb Joel Schwartz, Ph.D. is Scientific Director of Digital Biomarkers in the Neuroscience Translational Research Center at R&D. He leads strategy for developing and validating digital biomarkers to support neuroscience drug discovery and clinical trials. With prior roles at Biogen and Pfizer, he brings deep experience in translating digital measures into reliable endpoints for neurodegenerative diseases. Jason Osik, Ph.D Associate Director, Digital Health Bristol Myers Squibb Jason Osik, Ph.D. is Associate Director of Digital Health at Bristol Myers Squibb, where he leads digital biomarker development and advanced analytics for clinical trials. With a Ph.D. in Neuroscience from Brandeis and prior roles at Biogen and Boston Scientific, he brings expertise in machine learning, neurology, and real-world data to advance precision drug development. Lars Ittner, MD Co-Founder and Chief Medical Officer Celosia Therapeutics Lars Ittner, M.D., Ph.D. is Co-Founder and Chief Medical Officer of Celosia Therapeutics and Director of the Dementia Research Centre at Macquarie University. With over 20 years of neuroscience research experience, he focuses on Alzheimer’s disease and neuronal hyper-excitation. At Celosia, he leads clinical strategy for gene therapies targeting TDP-43 pathology in ALS and related disorders. Brian Winger, Ph.D Associate Vice-President, Digital Health Eli Lilly & Company Brian Winger, Ph.D. is Senior Advisor of Translational Technology & Innovation at Eli Lilly’s Digital Health Office. With over 20 years at Lilly and a background in analytical chemistry, he focuses on developing and validating digital biomarkers to support novel digital endpoints in drug development. He brings deep expertise in mass spectrometry and translational innovation to advance Lilly’s clinical portfolio. Guofa Shou, Ph.D Digital Health R&D Leader Eli Lilly & Company Guofa Shou, Ph.D. is a digital health R&D leader at Eli Lilly with over 15 years of experience in physiological signal research. He leads the development and integration of digital health technologies and biomarkers into clinical trials across cardiometabolic, neurodegenerative, oncology, immunology, and OSA indications. His work focuses on enabling precise, objective, and scalable health measurements to advance meaningful insights in clinical outcomes. Ann Marie Hake, MD Executive Director, Medical - Digital Health Eli Lilly & Company Ann Marie Hake, M.D. is a board-certified neurologist and clinical research physician in the Digital Health R&D group at Eli Lilly, where she also serves as Vice Chair of the Lilly Bioethics Advisory Committee. With fellowship training in neurodegeneration and expertise in medical informatics, she has led clinical trials and provided medical leadership in neurodegeneration and migraine. She is also an adjunct faculty member at Indiana University School of Medicine, where she continues to serve on the IRB and sees neurology patients twice a month. Michelle Cecić Director, Clinical & Technical Operations Mitsubishi Tanabe Pharma America Michelle Cecić is Associate Director of Clinical & Technical Operations at Mitsubishi Tanabe Pharma America, where she leads clinical trial planning and execution for neurology programs, including ALS and rare diseases. With expertise in clinical operations, site management, and regulatory compliance, she has contributed to multiple ALS and edaravone-related studies. Michelle works cross-functionally to ensure operational excellence and accelerate the delivery of life-changing therapies. Amanda Goldberg, MPAS, PA-C Medical Science Liaison Mitsubishi Tanabe Pharma America Amanda Goldberg, PA-C is a Medical Science Liaison at Mitsubishi Tanabe Pharma America, with 19 years of healthcare experience, including over 12 years as a Physician Associate in adult and pediatric neurosurgery and neurocritical care. Now in her first year as an MSL, she supports medical engagement and scientific exchange in ALS and Parkinson’s disease, bringing strong clinical insight and passion to the neuroscience field. Shiran Zimri, Ph.D VP of R&D and Country Lead NeuroSense Therapeutics Shiran Zimri, Ph.D. is Vice President of R&D and Country Lead for Canada at NeuroSense Therapeutics, where she oversees research programs in ALS, Parkinson’s, and Alzheimer’s diseases. With over 12 years of experience in preclinical drug development, she applies multidisciplinary approaches to neurodegenerative research. Dr. Zimri has published widely, presented at global conferences, and is an active member of BIO, Bashaar, and Midaat. She holds a Ph.D. in Neurobiology from Tel Aviv University. Matthew Davis, MD, R.Ph Chief Medical Officer Neuvivo Matthew Davis is a biopharmaceutical executive with 25+ years’ experience in developing, approving, and launching small molecules, biologics, and devices. He has served as COO and CMO at Tiziana Life Sciences, and as CMO at Endo Pharmaceuticals and Lupin. At URL Pharma, he secured three NDA approvals and invented all 17 Orange Book-listed patents for Colcrys®, contributing to its $2B acquisition by Takeda. Dr. Davis holds a Pharmacy degree from Temple, an M.D. from the Medical College of Pennsylvania, and completed surgical and urology training at Brown and Washington Hospital Center. Henk Schuring, Pharm.D. Chief Regulatory & Commercialization Officer Prilenia Therapeutics Henk Schuring is a senior pharmaceutical executive with 30+ years’ experience and a strong track record in rare diseases. A trained pharmacist, he has helped develop several “first treatments” and held regional and global roles in Regulatory Affairs and Commercial. At Prilenia, he shapes regulatory pathways and guides clinical program development, advancing therapies for underserved patients. Kasper Roet, Ph.D Founder, Chief Executive Officer Quralis Corporation Kasper Roet, CEO and co-founder of QurAlis and EnClear Therapies board member, is a neuroscientist specializing in gene therapies and stem cell-based precision medicine for ALS. He earned his Ph.D. from the Netherlands Institute for Neuroscience, trained at Johnson & Johnson and Harvard, and co-founded QurAlis with Harvard professors Clifford Woolf and Kevin Eggan. His honors include the Milton Safenowitz Fellowship, Fierce15 Biotech award, and Henri Termeer Transatlantic Connections Award. Tom Bowman, MD, MPH Medical Director & VP Clinical Sciences QurAlis Corporation Tom Bowman, MD, MPH is Medical Director and Vice President of Clinical Sciences at QurAlis Corporation, where he leads clinical development strategies for precision ALS and neurodegenerative therapies. With expertise in early-phase trial design, regulatory planning, and translational medicine, he guides programs from preclinical research through execution. He has worked in both biotech and large pharma, contributing to rare disease and RNA-based therapeutic programs. Dr. Bowman is committed to advancing patient-centered treatments for currently untreatable conditions. Brian Radecki Co‑Founder, Chief Executive Officer Rapa Therapeutics Brian Radecki is the Co-Founder and Chief Executive Officer of Rapa Therapeutics, a clinical-stage biotech developing cell therapies for cancer and ALS. Formerly CFO and EVP at CoStar Group, he helped grow it into a multibillion-dollar public company before moving into life sciences. Since founding Rapa in 2016, he has led the company from startup to state-of-the-art labs and advanced clinical trials. Radecki is also active as an angel investor in healthcare innovation. Daniel Fowler, MD Co-Founder, Chief Medical Officer Rapa Therapeutics Daniel Fowler, MD is the Co-Founder and Chief Medical Officer of Rapa Therapeutics, where he leads the development of next-generation RAPA-T cell therapies for cancer and ALS. A former National Cancer Institute physician-scientist, he pioneered research on regulatory T cells and Th2 cells to modulate immune responses in disease. His team developed hybrid T cells (RAPA-501) demonstrating safety and biological activity in ALS patients. Dr. Fowler’s work is advancing Phase 2/3 trials and expanded access programs. Matthew Wipperman, Ph.D Associate Director, Digital Medicine Regeneron Pharmaceuticals Matthew Wipperman, Ph.D is Associate Director of Digital Medicine at Regeneron Pharmaceuticals, where he leads strategy for sensor-derived biomarkers to transform trial outcome measures. He contributes to biomarker design, exploratory data analysis, and the discovery of innovative clinical endpoints. With 15 years of scientific and clinical research experience, including work at Sloan Kettering, he builds cross-functional collaborations to ensure clinical and regulatory success. Dr. Wipperman holds advanced degrees in chemistry and clinical science. Oren Levy, MD, Ph.D Medical Director, Early Clinical Development Regeneron Pharmaceuticals Oren Levy, MD, Ph.D is Medical Director of Early Clinical Development at Regeneron Pharmaceuticals, focusing on neurodegenerative disease programs. He integrates digital biomarkers, physiological signal-based assessments, and innovative trial design into early-phase studies. Dr. Levy has published research on remote respiratory monitoring in ALS and mobile gait analysis in Parkinson’s disease. He is dedicated to developing objective, scalable clinical endpoints to enhance trial precision and efficiency. Andreas Kalmes, Ph.D Vice President, Drug Development Revalesio Therapeutics Andreas Kalmes is Vice President of Drug Development at Revalesio Therapeutics, leading their ALS clinical program since 2015. He has over 20 years of experience in biotech and pharma, with previous leadership roles at Amgen and Immunex managing drug programs from discovery to clinical trials. Dr. Kalmes earned his Ph.D. from the University of Mainz in 1993 and did postdoctoral research at the University of Washington. At Revalesio, he focuses on advancing RNS60 and other treatments for neurodegenerative and inflammatory diseases. Irina Antonijevic, MD, Ph.D Chief Medical Officer, Trace Neuroscience Dr. Irina Antonijevic is Chief Medical Officer at Trace Neuroscience with over 30 years of experience in psychiatry, neurology, academia, and drug development. She was previously CMO at EveryONE Medicines, focusing on individualized therapies for rare neurogenetic mutations, and at Triplet Therapeutics, working on treatments for DNA repeat expansion disorders. She has also held senior roles at Wave Life Sciences, vasopharm GmbH, Sanofi Genzyme, Lundbeck, and Schering AG. Dr. Antonijevic trained at the Max Planck Institute of Psychiatry and earned her M.D. and Ph.D. from the University of Edinburgh. Sanjay Chandriani, Ph.D Head of Translational Sciences Trace Neuroscience Sanjay Chandriani leads Translational Sciences at Trace Neuroscience, focusing on developing biomarkers and bridging early scientific discoveries to clinical use, especially for ALS and neurodegenerative diseases. With a background in molecular biology, he has contributed to research published in scientific journals. His work centers on turning basic science into new therapies for complex neurological conditions. At Trace Neuroscience, he works with a multidisciplinary team to create innovative solutions for unmet needs in neurodegeneration. Ilan McNamara, Ph.D Vice-President, Regulatory Affairs VectorY Therapeutics Ilan McNamara is Vice President of Global Regulatory Affairs at VectorY, leading regulatory strategy for the company’s programs. With expertise in neuroscience, molecular biology, and regulatory science, he has extensive experience guiding therapies through clinical development. Before VectorY, Ilan held senior regulatory roles at Prevail Therapeutics, working on AAV-based treatments for neurodegenerative diseases. He specializes in regulatory submissions, global agency interactions, and manufacturing transitions, dedicated to advancing safe and effective therapies through science-driven regulatory innovation. James Berry, MD, MPH Chief, Division of ALS and MND Massachusetts General Hospital James Berry is the Winthrop Family Scholar in ALS Sciences, Chief of the Division of ALS and Motor Neuron Diseases, and Director of the Massachusetts General Hospital (MGH) ALS clinic. He has expanded care beyond the clinic through programs like ALS House Call and video tele-visits. As Director of the MGH Neurological Clinical Research Institute, he leads national and global trials focused on biomarkers of inflammation, mobile health, and digital phenotyping to advance ALS therapies while easing patient burden. He also directs the Mass General Brigham Neurodegenerative Clinical Research Fellowship and serves on leadership panels for NEALS and the CDC. Ernest Fraenkel, Ph.D Department of Biological Engineering Massachusetts Institute of Technology Ernest Fraenkel is the Grover M. Hermann Professor in Health Sciences and Technology at MIT and an Associate Member of the Broad Institute. He leads the Fraenkel Lab, combining computational and experimental systems biology to find new therapies for diseases like ALS, Huntington’s, glioblastoma, cancer, and diabetes. Dr. Fraenkel earned his A.B. in Chemistry and Physics summa cum laude from Harvard and his Ph.D. in Biology from MIT. His research focuses on using multi-omics data to map molecular pathways and identify drug targets. Anchor 1 Lyle W. Ostrow, MD, PhD Associate Professor of Neurology, Lewis Katz School of Medicine Neurologist, MDA/ALS Center of Hope Temple University Lyle Ostrow is Associate Professor of Neurology at Temple University and leads the MDA/ALS Center of Hope. He directs the ALS Postmortem Research Core with the CDC’s National ALS Registry, advancing biomarker discovery. A physician-scientist trained at Johns Hopkins, he chairs the Department of Defense ALS Research Program, managing a $40M+ budget. Dr. Ostrow is known for his clinical leadership and efforts to improve ALS care and therapies. Merit Cudkowicz, MD, MSc Executive Director, Mass General Brigham Neuroscience Institute Massachusetts General Hospital Merit Cudkowicz is Executive Director of the Mass General Brigham Neuroscience Institute, Director of the Sean M. Healey & AMG Center for ALS, and Professor of Neurology at Harvard Medical School. A leader in ALS research, she co-founded the Northeast ALS Consortium and leads the HEALEY ALS Platform Trial to speed therapy development. Dr. Cudkowicz has pioneered antisense oligonucleotide treatments and adaptive trial designs. She holds degrees from MIT and Harvard and has received major awards like the Sheila Essay ALS Award and the Forbes Norris Award. Eduardo R. Locatelli, MD, MPH Physician Executive Director & Neurologist Director, Cathy J. Husman ALS Center NSU Neuroscience Institute Eduardo R. Locatelli is Physician Executive Director of the NSU Neuroscience Institute and leads the Cathy J. Husman ALS Center of Excellence at NSU Health, Florida. With over 30 years as a U.S.-licensed physician and researcher, he holds an MD, MPH, Neurology Board Certification, and Neuroimaging Diplomate. Dr. Locatelli focuses on improving ALS patient care through leadership and strategic planning. He helped establish a multidisciplinary ALS clinic with Mass General Hospital and secured over $10 million in philanthropy to develop the ALS Center. He also leads initiatives in medical informatics, quality improvement, and ethics. Ed Lein, Ph.D Senior Investigator Allen Institute for Brain Science Dr. Ed S. Lein is a Senior Investigator at the Allen Institute for Brain Science and Affiliate Professor at the University of Washington. He earned his B.S. in biochemistry from Purdue and Ph.D. in neurobiology from UC Berkeley, with postdoctoral work at the Salk Institute. Since joining the Allen Institute in 2004, he has led projects like the Allen Mouse Brain Atlas and human brain atlases. His research focuses on single-cell genomics and spatial transcriptomics to map brain cell types, study disease vulnerability, and develop precision therapies. He also serves on BICAN and Human Cell Atlas committees. Anchor 2 Lou Warnett, MSc Healthcare Data Scientist Amazon Web Services (AWS) Lou Warnett is a Healthcare Data Scientist at Amazon Web Services (AWS), helping healthcare and life sciences organizations use machine learning, generative AI, and cloud analytics to drive innovation. He partners globally with academic centers, biotech firms, and health systems to support precision medicine, clinical research, and genomics on AWS. Lou holds a Master’s in Mathematics and Computer Science from Imperial College London. His expertise includes AI solution design, multi-modal data integration, and advanced modeling focused on improving patient outcomes and accelerating discovery through data. David Master AI Specialist Amazon Web Services (AWS) David Master is an AI Specialist at Amazon Web Services (AWS), where he helps organizations design and deploy scalable, cloud-based AI solutions. With a strong background in machine learning engineering and cloud infrastructure, he collaborates across sectors to drive innovation and responsible AI adoption. David is a technology enthusiast and advocate helping nonprofit organizations harness data to apply artificial intelligence to their missions and the societal good they advance. His work spans AI model development, optimization, and workflow design with a focus on trust, fairness, and transparency to enable organizations to unlock value through intelligent systems. Fernando Vieira, MD Chief Executive Officer & CSO ALS Therapy Development Institute Fernando Vieira is CEO and Chief Scientific Officer of the ALS Therapy Development Institute (ALS TDI), a nonprofit biotech focused on ALS treatments. Trained as a physician-scientist at Harvard Medical School and with a background in Biological Engineering from the University of Florida, Dr. Vieira has worked in ALS research since 2001. He leads efforts in preclinical drug discovery, biomarker development, and ALS model optimization. Under his leadership, ALS TDI has advanced multiple therapies into clinical trials and pioneered new ALS drug development approaches. Brendan O’Leary Digital Health & Medical Technology Former Deputy Director & Acting Director, FDA Digital Health Center of Excellence Regulation and policy advisor Brendan O’Leary advises technology developers, healthcare organizations, and professional groups on digital health and medical technology development, evaluation, and regulation. He spent 14 years at the FDA, including as founding Deputy Director of the Digital Health Center of Excellence. Brendan helped shape key FDA policies and decisions on medical devices and digital health. He has represented the agency in public forums, congressional hearings, and media, and played a major role in the federal response to SARS-CoV-2. Ajay Verma, MD, Ph.D General Partner Formation Venture Engineering Ajay Verma is a neuroscientist, neurologist, and military and biotech veteran. He practiced neurology at Walter Reed Army Medical Center for 15 years before a 20-year biopharma career with executive roles at Merck, Novartis, Biogen, United Neuroscience, Codiak, and Yumanity. Ajay has worked across various drug and biotech platforms and is now a General Partner at Formation Venture Engineering and CEO of the immunotherapy startup Twilight Bioscience in Massachusetts. Sabrina Paganoni, MD, Ph.D Co‑Director, Neurological Clinical Research Institute (NCRI) Massachusetts General Hospital Sabrina Paganoni is Co-Director of the Neurological Clinical Research Institute at Massachusetts General Hospital and Assistant Professor at Harvard Medical School. A physician-scientist at the Healey & AMG Center for ALS, she leads ALS clinical trials, co-leads the HEALEY ALS platform trial, and co-chairs the global PHOENIX trial. Her work focuses on innovative trial designs, digital tools, and assistive tech for ALS and related disorders. With over 100 publications, she serves on editorial boards and holds three board certifications. Marianne Chase Senior Director, Clinical Trial Operations Neurological Clinical Research Institute Massachusetts General Hospital Marianne Chase is Senior Director of Clinical Trial Operations at the Neurological Clinical Research Institute and Healey Center for ALS at MGH. She helped launch the first ALS Platform Trial in 2020 and has over 25 years of experience leading NIH, foundation, and industry-sponsored research in trial design, coordination, and regulatory compliance. Marianne supports NeuroNEXT, NEALS, and the Parkinson’s Study Group, serves on the Clinical Trial Transformation Initiative, and teaches clinical trial best practices as adjunct faculty for the NINDS Clinical Trials Methodology Course. Karl A. Sillay, MD Assistant Professor of Neurological Surgery; Director of Adult Functional Stereotactic Neurosurgery Karl Sillay is an Assistant Professor of Neurological Surgery and Director of Adult Functional and Stereotactic Neurosurgery. He earned his medical degree from the Medical College of Georgia, completed his neurosurgery residency at Vanderbilt University, and pursued a fellowship in functional neurosurgery at the University of California San Francisco. With a career that spans positions in Colorado, Tennessee, and Wisconsin, Dr. Sillay specializes in treating movement disorders and complex spinal and cranial conditions. He is board-certified in neurological surgery and is committed to advancing precision surgical techniques and mentoring the next generation of neurosurgeons. John Furey Clinical Research Coordinator Lewis Katz School of Medicine Temple University John Furey is Clinical Research Coordinator at Temple University’s Lewis Katz School of Medicine, working with the MDA/ALS Center of Hope. A biomedical engineering graduate from Drexel University, he started as a co-op supporting ALS research and now leads coordination of clinical studies including a tissue biorepository, ALS natural history investigations, and biomarker tracking in patients treated with Radicava. John mentors Drexel co-op students and is dedicated to advancing ALS care through research and patient engagement. Philip Reilly, MD, JD Co‑Founder & Director, Luna Genetics Venture Partner, Third Rock Ventures EverythingALS Boardmember Philip Reilly is a biotech entrepreneur, physician, and attorney, co-founder and director of Luna Genetics, which develops next-gen prenatal diagnostic technologies. He is also a Venture Partner at Third Rock Ventures, helping launch innovative life science companies. Trained in internal medicine and clinical genetics, Dr. Reilly has held leadership roles including interim CMO at bluebird bio and CEO of Interleukin Genetics. He has authored seven books and over 100 scientific and policy articles, working at the crossroads of genetics, medicine, ethics, and law. Susan Catalano, Ph.D Chief Scientific Officer, Biotechnology Industry Leader EverythingALS Boardmember Susan Catalano is a biotechnology executive and Chief Scientific Officer who advises early-stage biotech ventures. She co-founded Cognition Therapeutics in 2007, leading efforts that developed CT1812, now in clinical trials. With over 20 years in neurobiology and oncology drug discovery, she has held executive roles at CodA Biotherapeutics, Acumen Pharmaceuticals, Rigel Pharmaceuticals, and Roche. Dr. Catalano has authored many publications and patents, led NIH-funded projects, and serves on scientific advisory boards for neurodegenerative drug development. EverythingALS Team John Hudacek Retired U.S. Army veteran Person living with ALS EverythingALS Pathfinder John Hudacek, a retired U.S. Army veteran from Melbourne, Florida, served 20 years in roles including Infantryman, Aerial Photographer, and Special Forces Medic. He later led training at a military boarding school and worked as an Army advisor and recruiter until 2020. Following a COVID-19 infection that year, he was diagnosed with ALS, with symptoms since 2019. He began FDA-approved treatments and maintains an ALSFRS-R score of 44. He follows a healthy lifestyle with daily exercise, therapy, and VA care. Steve Kowalski Retired Apple Computers Person Living with ALS Steve Kowalski from Boston, MA, retired from Apple in 2020 after 34 years. Diagnosed with ALS in 2017, he has raised over $250K for research, joined clinical trials, and serves on ALS boards. He uses mobility aids but stays active and advises on ALS technology. Anchor 4 McFinn Lovere ALS Reversal #42 Community Lead and Spiritual Guide Head of Pathfinder Program EverythingALS McFinn Lovere, diagnosed with ALS in 2006 and initially paralyzed, reversed his progression through spiritual practice and care. He is ALS Reversal #42 confirmed by Dr. Richard Bedlack. McFinn now leads the Pathfinder Program at EverythingALS and mentors others while participating in ALS research at Duke and other institutes. Indu Navar, MSCS Board Member, Global Genes Ph.D. Candidate, King’s College London EverythingALS Indu Navar is a Silicon Valley tech entrepreneur and CEO of the Peter Cohen Foundation (EverythingALS.org and EverythingAD.org), focused on tech-driven research for neurological diseases. After losing her husband to ALS in 2019, she dedicated herself to patient-led research and digital health. She serves on boards for Global Genes and Answer ALS. Indu has held leadership roles at Woodside Capital, Serus Corporation, WebMD, and NASA. She holds Bachelor's degrees in electrical engineering and Master's in computer science and currently pursuing a Ph.D in Neuroscience at King's college, London. Christian Rubio, MBA Executive Director & Head of Development EverythingALS Christian Rubio is Executive Director and Head of Development at EverythingALS, with 15+ years in patient advocacy, partnerships, and fundraising. He previously led advocacy at Praxis Precision Medicines and strategic advancement at Global Genes. An MBA graduate from Babson College, he drives initiatives in digital biomarkers, clinical trial participation, and collaboration in ALS and neurodegenerative research. Stephanie Henze Head of Design, Clinical Research Innovation & Strategy EverythingALS Stephanie Henze leads Design, Clinical Study, Research, Innovation, and Strategy at EverythingALS, with 30+ years in developing groundbreaking medical products and experiences. Combining medicine and industrial design, she applies user-centered design to advance digital biomarkers and patient engagement. She has held leadership roles at McKinsey & Company, LUNAR, and Hiemstra Product Development, and is a graduate of Art Center College of Design. Natalia Luchkina, Ph.D Research & Innovation Lead EverythingALS Natalia Luchkina leads digital health research and innovation strategy at EverythingALS, focusing on ALS and neurodegenerative diseases. She has 15+ years in healthcare and life sciences, including consulting at McKinsey and research at Harvard Medical School and McLean Hospital. Holding a Ph.D. in Physiology and Neuroscience from the University of Helsinki, she specializes in strategy, data-driven solutions, and organizational transformation. Silviya Bastola Research and Operations EverythingALS Silviya Bastola has over four years’ experience managing Phase II–IV clinical studies in biotech, pharma, and medical devices, focusing on infectious disease, vaccines, rare diseases, and neurology. At EverythingALS, she advances patient-centered innovation through digital health tools, research design, and app development, supporting the care-to-cure mission for ALS. She combines expertise in neuroscience, project management, and clinical operations to improve outcomes and accessibility. Swapnil Harkanth Head of Software Development EverythingALS Swapnil Harkanth is the Head of Software Development at EverythingALS, bringing extensive expertise in cloud computing, software engineering, data analytics, and cybersecurity. Passionate about innovation, Swapnil designs and implements scalable, high-performance solutions that support digital biomarker platforms and patient-centered technologies. With a strong focus on reliability, integration, and system optimization, Swapnil leads cross-functional teams through complex technical transformations. Known for delivering measurable impact, Swapnil enables organizations to harness technology to accelerate research, streamline operations, and maintain a competitive edge in a rapidly evolving digital landscape. Anusha Rao AI Research Engineer Neuroscience & Digital Biomarkers Student Ambassador Anusha Rao, AI Research Engineer at Arkifi and neuroscience researcher, specializes in digital biomarkers for neurodegenerative diseases. With prior work at the NIH and Johns Hopkins School of Medicine, she developed machine learning models for traumatic brain injury therapies and used AlphaFold to study protein structures tied to ALS. She also contributed to the ALS Generative AI initiative at EverythingALS, merging expertise in large language models, cognitive science, and computational neuroscience to advance early detection and treatment strategies for neurological disorders. Julian Peller, MSc Head of Data Science Digital Biomarker Research Lead Kaggle Code Grandmaster EverythingALS Julian Peller leads the EverythingALS Data Science team, advancing digital biomarkers for early ALS diagnosis and progression tracking. With 15+ years in software, an MSc in Computer Science, and recognition as a Kaggle Code Grandmaster, he applies deep learning and statistical methods to multimodal data to drive innovation in digital health. Alan Taitz, Ph.D Research Scientist, AI for Speech, Health & Biosensing SRI International EverythingALS Advisor Alan Taitz, an advanced computer scientist at SRI International, has 10+ years’ experience in statistical modeling and machine learning, with expertise in physics, neuroscience, speech, and AI. At EverythingALS, he advises on digital biomarker development for clinical trials, partnering with pharma and contributing to an FDA COA Letter of Intent. Holding three pending patents and a PhD on brain language processing, he is also passionate about teaching physics and machine learning. Marcos Trevisan, Ph.D Collaborative Investigator University of Buenos Aires & CONICET EverythingALS Marcos Trevisan is a collaborative investigator at EverythingALS and the University of Buenos Aires/CONICET, focusing on digital biomarkers, speech analysis, and neurodegenerative diseases. He develops AI models to monitor ALS progression via remote assessments like home spirometry and acoustic analysis. His work includes attention-based models to measure speech impairment, enhancing clinical endpoints. Dr. Trevisan combines computational modeling, neuroscience, and translational research to advance ALS care and digital health. Diego Shalom, Ph.D Research Scientist University of Buenos Aires & CONICET EverythingALS Diego Shalom is a Data and Research Scientist at EverythingALS and the University of Buenos Aires/CONICET, specializing in machine learning for health and neuroscience. He develops digital biomarkers for ALS, analyzing speech and respiratory data for early detection and tracking. His work includes listener effort modeling, home spirometry, and disease progression prediction. With a background in physics and computational modeling, Diego creates scalable tools to improve clinical assessment and neurodegenerative research. Anchor 5

EverythingALS is a patient-focused non-profit, part of Peter Cohen Foundation (PCF) a 501(3)c organization. Our mission is to support efforts to care for ALS patients and work to find a cure by creating a platform for direct engagement with patients, caregivers, advocates, and researchers. A patient-focused non-profit bringing technological innovations and data science to support efforts, from care to cure, for people with ALS. Our Research > Latest News > Next ALS Expert Event > Download the EverythingALS App ALS is a neurodegenerative disease with no treatments . Every 90 minutes someone is diagnosed The Power of Together Take action, Join this mov e me nt This map represents our strong growing ALS community across 44 countries How did you hear about us? Submit Contact Care to Cure for ALS EverythingALS is a patient-focused non-profit bringing technological innovations and data science to support efforts -- from care to cure -- for people with ALS, by offering a open-data platform for direct engagement with patients, caregivers, researchers and drug companies. Care for People living with ALS As patient advocates, we host bi-monthly community meetings that are designed to provide patients and caregivers with the support and information that they will need throughout their ALS journey. Meet our teammate, McFinn Lovere, Spiritual Guide and ALS Reversal #42. His blogs are inspiring, and can be accessed by clicking the link below. https://mcfinn.medium.com/ Finding a cure for ALS Technology will be the key enabler for the innovation to end ALS. We support efforts to find a cure for ALS by creating a platform for direct engagement with patients, researchers and cutting edge Cloud and AI technologies. Sponsored Projects Develop speech analysis - audio and facial metrics - for early detection, clinical endpoints and better voice recognition tools for ALS in collaboration with MIT, MGH, UT Austin and Google. Funding for the first ALS Platform trial at Mass General by Dr.Merit Cudkowitz. Supporting AnswerALS and Gladstone Institute with multi-omics analysis with machine learning and big data to uncover ALS causes, subtypes, pathways, and drug targets. EverythingALS Join us on Social Media There are many ways to be involved and engaged on day-to-day conversations Join our active Facebook group. We share all our important events, research and day-to-day annoucements Follow us on twitter. We will regularity tweet announcements and research findings. Follow us on Instagram where our advocates and students share inspiring stories. Join our LinkedIn group. We will share active research ideas and dialogue. Subscribe to our YouTube channel. We will post our ALS Talk series content on YouTube channel. As seen on