Hereditary motor neuron disease

This study will follow 36 people with spinal muscular atrophy (SMA) who receive a gene therapy called onasemnogene abeparvovec (ITVISMA) injected into the spinal fluid. The goal is to see how well it works and how safe it is in everyday medical practice. Participants must be at l…

This study tests whether a special probiotic supplement can change fat-related molecules in the blood of people with ALS and frontotemporal dementia (FTD). Researchers will compare those taking the probiotic to those taking a placebo over 24 weeks. The goal is to see if the probi…

This study tests a new biologic drug called ARGX-119 in children aged 5 to 17 with spinal muscular atrophy (SMA). About 60 participants will receive either ARGX-119 or a placebo by IV infusion for 24 weeks, alongside their usual SMA therapy. The goal is to find the best dose and …

This study tests a drug called apitegromab in children under 2 years old who have spinal muscular atrophy (SMA), a genetic condition that causes muscle weakness. The drug works by blocking a protein that limits muscle growth. Researchers want to see if adding apitegromab to stand…

This study tests an experimental drug called ALN-SOD in people with ALS caused by a mutation in the SOD1 gene. The drug is given via spinal injection to target the root cause of the disease. The main goal is to check safety, but researchers will also measure effects on biomarkers…

This study tests whether adding risdiplam, a daily oral medicine, can help children under 2 with spinal muscular atrophy (SMA) who stopped getting better or started declining after receiving gene therapy. The study will enroll 28 children and measure changes in motor skills over …

This study looks at how the body handles the drug nusinersen when given through a new implantable device called ThecaFlex DRx™, compared to the usual method of a lumbar puncture (spinal tap). About 58 people with spinal muscular atrophy (SMA) who are already in another study (PIE…

This study is testing whether the drug risdiplam can improve motor skills in children under 2 with spinal muscular atrophy (SMA) who have already received gene therapy. The 28 participants will take risdiplam by mouth, and researchers will measure changes in their gross motor ski…

This study tests a brain implant that records and stimulates brain areas to help adults with severe paralysis (from spinal cord injury, ALS, or stroke) control assistive devices like computers or wheelchairs. The main goal is to check safety, and researchers will also see if part…

This early-phase trial tests a gene therapy called SKG0201 in 11 infants with spinal muscular atrophy (SMA) type I, a severe muscle-weakening disease. The therapy uses a harmless virus to deliver a working copy of the missing SMN1 gene. The study aims to see if it is safe and can…

This trial tests a new implantable device called ThecaFlex DRx in 90 people with spinal muscular atrophy (SMA) who cannot receive standard spinal injections due to spine problems or other risks. The device is placed under the skin and delivers the medication nusinersen directly i…

This study tests a drug called salanersen in babies who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The drug helps the body make more of a protein that is missing in SMA, which is needed for muscles to work. Researchers want to see if starting t…

This study tests a drug called salanersen in babies with spinal muscular atrophy (SMA) who have already received gene therapy. The drug aims to help the body make more SMN protein, which is needed for muscle function. About 42 babies with two copies of the SMN2 gene will be rando…

This study tests a single dose of GB221, a gene therapy that delivers a working SMN1 gene, in infants aged 2 weeks to under 12 months with spinal muscular atrophy (SMA) Type 1. The goal is to see if it is safe and helps improve motor function. The trial includes both symptomatic …

This early-stage trial tests a brain-computer interface called BrainGate for people with paralysis from conditions like ALS or spinal cord injury. A small sensor is placed in the brain to interpret movement-related signals, allowing users to control a tablet computer just by thin…

This phase 3 study tests a drug called salanersen (BIIB115) in people aged 15-60 with spinal muscular atrophy (SMA). The drug is designed to help the body produce more of a protein needed for nerve and muscle function. Participants receive an injection into the spine once a year …

This study tests whether a 3-week intensive summer camp combining motor skill training and strength exercises can improve movement in children with spinal muscular atrophy (SMA). Twenty children aged 5-17 who are already on stable disease-modifying therapy will attend 6-hour sess…

This study tests several already-approved drugs to see if they can slow down motor neuron disease (MND) and help people live longer. About 1150 adults with MND will be randomly assigned to receive one of the study drugs or a placebo. The trial uses a flexible design, allowing ine…

This study is testing a gene therapy called vesemnogene lantuparvovec for spinal muscular atrophy (SMA) in low- and middle-income countries. Researchers will track safety and whether children reach motor milestones like sitting or walking. The trial involves 15 participants and a…

Neuralink is testing a brain-computer interface called the N1 Implant, placed by a robot, to help people with severe paralysis communicate. The study will enroll 6 adults with conditions like ALS or spinal cord injury who cannot speak or use their hands well. The main goal is to …

This study tests a new approach for people with motor neuron disease (ALS) that combines personalized brain stimulation with mixed reality exercise games. The goal is to slow disease progression and improve quality of life. One hundred adults with mild to moderate ALS will be ran…

Researchers at Johns Hopkins University are studying whether neuromuscular ultrasound and MRI can serve as reliable markers of swallowing muscle problems in people with inclusion body myositis (IBM). The study compares imaging and clinical findings in 30 participants, including p…

Motor neuron disease (MND), including ALS, is hard to diagnose and often takes years to confirm. This pilot study uses a powerful 7 tesla MRI scanner to look for detailed brain features, called imaging biomarkers, that are specific to MND and its subtypes. Researchers will scan 3…

This study is testing a smartphone app that records and analyzes speech to help diagnose and monitor neurodegenerative conditions like dementia, Parkinson's disease, multiple sclerosis, and motor neuron disease. Researchers will compare speech patterns from 150 people with these …

This study is working on a new blood test for pregnant women that can check for serious genetic conditions like cystic fibrosis, spinal muscular atrophy, and sickle cell disease. Researchers will collect blood samples from 4,000 pregnant women who are at higher risk of passing on…

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

This study tests whether a single 30-minute session of transcutaneous electrical nerve stimulation (TENS) on the face can reduce jaw and facial pain, improve jaw movement, and make chewing easier for people with ALS or PLS. Ten participants will receive the treatment during one c…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study looks at whether adding a specific pressure setting (PEP) to a standard cough-assist machine can help people with ALS cough more effectively. ALS weakens the muscles needed to cough, raising the risk of lung infections. The trial will compare cough strength with and wi…

This study tests a new home-based program that uses a special treadmill and virtual reality to help children with conditions like cerebral palsy, muscle diseases, or obesity improve their walking. About 30 children aged 6 to 17 will try the program at home for at least 3 sessions…

This study uses a special PET scan to measure tau protein buildup in the brains of people with frontotemporal lobar degeneration (FTLD), atypical Alzheimer's disease, and healthy volunteers. Researchers want to see if this scan can help tell these conditions apart. About 72 adult…

This study screens 360 adults with neurodegenerative disorders like ALS, frontotemporal dementia, and progressive supranuclear palsy. Researchers will use medical history, physical exams, memory tests, movement analysis, MRI scans, and other tests to find common features and diff…

This study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

This study creates a registry of pregnancies where the fetus received a genetic diagnosis of spinal muscular atrophy (SMA) and was treated with a disease-modifying therapy while in the womb, such as risdiplam. Researchers will collect information from medical records and question…

This study will observe 30 children with type I or type II spinal muscle atrophy who are taking risdiplam. Researchers will track motor function improvements over 24 months using standard tests. The goal is to see how well the drug works in everyday medical practice.

Researchers at the University of Pennsylvania are building a large repository of blood, DNA, and family history data from people with age-related brain diseases like Alzheimer's, Parkinson's, and ALS, as well as their family members. The goal is to support studies into the geneti…

This study is building a registry of people with spinal muscular atrophy (SMA) in the UK and Ireland. Participants complete questionnaires about their symptoms, motor function, medications, and family history. The goal is to gather detailed information to better understand the di…

This study follows people with several types of spinocerebellar ataxia (SCA) — rare genetic diseases that cause balance, coordination, and speech problems — to learn how these conditions change over time. Researchers will collect blood samples, perform neurological exams, and use…

This study watches how spinal muscular atrophy (SMA) drugs change muscles and nerves in 24 children aged 5 to 20. Using MRI scans, strength tests, and blood samples, researchers track changes over a year. The goal is not to test a new treatment but to better understand how existi…

This study is for people diagnosed with ALS, MND, or PLS. Participants fill out an online survey once a month about their physical function, diet, supplements, medications, and mental outlook. The goal is to see which therapies and behaviors are linked to better outcomes. No new …

This study gathers information from the medical records of 1,200 people with ALS and similar conditions. Researchers will use this data to better understand the disease and improve future studies. No experimental treatments are given—the goal is simply to learn from real-world pa…

This study is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…

This study is testing whether a smartphone app can accurately measure how people walk, without needing special markers or equipment. Researchers will compare the app's measurements to a standard motion-capture system in 30 volunteers—some with neuromuscular diseases like SMA or m…

This study looks at how tired people with spinal muscular atrophy (SMA) feel during daily activities while taking the drug nusinersen. Researchers will use a new questionnaire called the SMA EFFORT to measure this fatigue. The goal is to better understand fatigue in SMA and see i…

This study follows up to 60 babies with spinal muscular atrophy (SMA) found at birth, plus 30 healthy babies, for up to 30 months. Researchers use wearable devices worn at home to track muscle development and find when movements start to differ from normal. The goal is to identif…

This study is testing a new way to measure fatigue in people with spinal muscular atrophy (SMA), a condition that causes muscle weakness. The test is designed to be easy enough for patients with different levels of ability. Researchers want to see if the test is safe, doable, and…

This study explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…

This study looks back at the last 10 years in Denmark to understand how many people use breathing machines at home through a tube in their windpipe. Researchers will track which diseases lead to this need and how many patients survive one year after starting. The goal is to spot …

CAPTURE ALS is a long-term study that collects health data and biological samples from 150 people with ALS and related conditions. The goal is to create a shared resource for researchers worldwide to better understand the disease and develop new treatments. No experimental drugs …

This study is testing whether special insoles worn inside shoes can measure how well children with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) walk. About 106 participants, including healthy children, will wear the insoles during walking tests and in daily …

This study looks at the long-term safety of the drug tofersen (Qalsody®) in people with a rare, inherited form of ALS called SOD1-ALS. Researchers will collect health information from about 125 participants in Europe and the US over at least 7 years. The main goal is to see what …

This study is looking at whether the way people with spinal muscular atrophy (SMA) walk can tell us about their bone health. Researchers will use special insoles to measure walking patterns and compare them with bone density scans and blood tests. The goal is to find simple, non-…

This study is collecting health data and blood samples from 100 people with specific types of hereditary spastic paraplegia (SPG4 and SPG5A). The goal is to create a shared database and biobank to better understand how the disease progresses. This information will help prepare fo…

This study gathers health information from pregnant women with spinal muscular atrophy (SMA) who have taken the drug Spinraza (nusinersen), and from their babies. Researchers want to learn about pregnancy outcomes, such as miscarriage, birth defects, and infant development. The s…

This study follows 60 children with spinal muscular atrophy (SMA) who are already receiving SMN-restoring therapies like nusinersen or gene therapy. Over two years, researchers will track their muscle function, fatigue, breathing, and thinking skills to describe new disease patte…

This study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…

This study is a registry that collects health information from people in Switzerland who have neuromuscular disorders like SMA, DMD, BMD, and others. It aims to track symptoms, treatments, and outcomes over time to help researchers and doctors improve care. No new treatments are …

This study looks at the experiences of 200 adults with spinal muscular atrophy (SMA) to understand how they were diagnosed and treated. Researchers want to find out why some patients are not receiving approved therapies, such as financial or access barriers. The goal is to improv…

This study tests a new way to read DNA that may find hidden carriers of spinal muscular atrophy (SMA). Some people carry two copies of the SMN1 gene side by side, making them carriers that standard tests miss. Researchers will take blood samples from 27 adults and use long-read D…

This study uses special wearable devices to monitor how babies and children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) move at home. About 100 children will wear a sensor-filled jumpsuit or an ankle monitor to track their motor skills over up to 30 mo…

This study uses powerful MRI scans to find biomarkers—measurable signs of disease—for amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Researchers will compare brain images from patients and healthy volunteers to better understand these diseases and potent…

This study aims to learn how the binding of RNA with DNA (called R-loops) is linked to amyotrophic lateral sclerosis type 4 (ALS4) and other inherited neurological disorders. Researchers will observe up to 330 people aged 5 and older, including those with ALS4, related conditions…

This study looks at how spinocerebellar ataxia (SCA) affects the eyes and vision. Researchers will examine 60 adults with SCA types 1, 2, 3, or 27B, including those with early symptoms and those who are not yet symptomatic. The goal is to measure vision changes and eye damage usi…

This study aims to improve how doctors assess movement in infants with spinal muscular atrophy (SMA), a severe muscle-weakening disease. Researchers will use sensors to measure babies' movements in a special bathtub, where water helps reduce gravity's effects. The goal is to crea…

This observational study will follow 1,000 people with spinal muscular atrophy (SMA) in Spain over many years. Researchers will collect information on motor skills, breathing support, and feeding needs during routine clinic visits. The goal is to standardize how SMA data is gathe…