Inherited neurodegenerative disorder

This study tests the long-term safety and effectiveness of an experimental drug called VX-670 in adults with myotonic dystrophy type 1 (DM1). Participants who completed a previous VX-670 study can join. The drug is given through a vein, and researchers will monitor side effects a…

This study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…

This phase 2 trial tests whether allopregnanolone, a natural hormone, can safely help repair the brain in people with early Alzheimer's disease. About 100 volunteers aged 55 to 80 will receive weekly infusions of the drug or a placebo for several months. Researchers will measure …

This early-stage trial tests a single injection of ARO-ATXN2 in 36 adults with spinocerebellar ataxia type 2, a rare genetic disorder that affects movement and coordination. The main goal is to see if the drug is safe and how the body processes it. Participants are randomly assig…

This early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…

This study planned to test whether injecting botulinum toxin (Botox) into the salivary glands could reduce drooling in people with true bulbar palsy, a condition that causes swallowing problems after a brain stem injury. The trial was designed to compare the injections against st…

This phase 2 trial tests whether adding a second DNA vaccine to a standard immunotherapy (pembrolizumab) can improve outcomes for men with castration-resistant metastatic prostate cancer. About 60 participants will receive either one or two DNA vaccines along with pembrolizumab f…

This phase 3 trial tests whether the drug troriluzole can slow the progression of spinocerebellar ataxia, a rare genetic disorder that affects coordination and balance. About 300 adults with different types of SCA are randomly assigned to take either troriluzole or a placebo dail…

This early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…

This study tests a gene therapy called vesemnogene lantuparvovec in about 20 people with spinal muscular atrophy (SMA), a genetic condition that causes muscle weakness. The therapy delivers a working copy of the SMN1 gene to help muscles work better. The main goal is to check saf…

This study tests whether adding an experimental drug (RO7204239) to an existing SMA medicine (risdiplam) can help people with spinal muscular atrophy build stronger muscles and move better. The trial includes about 259 children and young adults, ages 2 to 25, who can walk. Resear…

This early-stage trial tests a one-time gene therapy called CLN-301 in 7 children aged 3 to 10 with CLN3 Batten disease, a rare genetic disorder that causes progressive loss of vision, movement, and thinking skills. The therapy delivers a working copy of the CLN3 gene directly in…

This trial tests a personalized treatment plan for people with advanced colorectal cancer that has spread to the liver and stopped responding to standard treatments. The approach combines a liver-directed chemotherapy (HAIC), a targeted therapy (fruquintinib or cetuximab), and an…

This study looks at whether the drug troriluzole can slow the progression of spinocerebellar ataxia (SCA), a rare genetic disease that affects movement and balance. Researchers will compare 909 patients who took troriluzole for up to three years with similar patients who did not …

This study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…

This study tests an oral drug called SKY-0515 in 500 adults with Huntington's disease who have already completed a prior study of the same drug. The goal is to see if the drug can safely lower harmful proteins and improve symptoms over the long term. Participants must be 25 or ol…

This study tests whether adding taldefgrobep alfa to standard SMA treatments can improve muscle function in people with spinal muscular atrophy (SMA). About 269 participants, both walkers and non-walkers, will receive either the drug or a placebo for 48 weeks. The main goal is to…

This early-stage trial tests a new gene therapy called NKG001 in 21 children under 5 with spinal muscular atrophy (SMA). The therapy is given as a single dose, either through a vein or combined with a spinal injection. The main goal is to check safety and find the best dose, not …

This early-stage study tests the safety of acamprosate, a drug used for alcohol dependence, in 30 adults with ALS who have a specific mutation in the C9orf72 gene. Participants take the pill three times daily for 24 weeks and undergo regular checkups, breathing tests, and spinal …

This study was designed to test whether the drug govorestat could improve symptoms of Charcot-Marie-Tooth disease caused by sorbitol dehydrogenase deficiency (CMT-SORD), a rare nerve condition. It planned to enroll people aged 16 to 65 and compare govorestat to a placebo over 36 …

This phase 2 trial tests an experimental drug called tominersen in 301 people with early-stage Huntington's disease. The drug aims to lower levels of the harmful mutant protein that causes the disease. Researchers will compare tominersen against a placebo to see if it can slow do…

This study tests a higher dose of nusinersen (Spinraza) in 45 teenagers and adults with spinal muscular atrophy (SMA) who cannot walk and have already taken risdiplam. Participants receive two 50 mg loading doses two weeks apart, then 28 mg every four months for about two years, …

This early-phase trial tests an experimental drug called nL-FLVC-001 in a single person with posterior column ataxia with retinitis pigmentosa (PCARP), a rare genetic condition that causes vision loss and coordination problems. The drug is an antisense oligonucleotide injected in…

This early-stage study tests a gene therapy called AB-1001 in 5 adults with early Huntington's disease. The treatment is injected directly into the brain to potentially slow the disease. The main goal is to check safety, but researchers will also look at brain changes on MRI and …

This early-stage trial tests a gene therapy called PBFT02 for frontotemporal dementia (FTD) in people with specific genetic mutations. The therapy delivers a working copy of the GRN gene directly into the brain. The study involves 30 adults and primarily checks for safety and sid…

This study tests omaveloxolone, a drug already approved for adults with Friedreich's ataxia, in children aged 2 to 15. Researchers want to see how the drug moves through children's bodies and whether it is safe. The study involves two parts: a single dose followed by daily dosing…

This study tests a device that delivers specific light and sound patterns to the brain, aiming to slow the progression of mild-to-moderate Alzheimer's disease. About 670 participants will use the device at home for an hour daily over a year, with half receiving a sham (inactive) …

This study tests an oral drug called SKY-0515 in 120 adults with Huntington's disease. The goal is to see if it can lower harmful proteins in the blood, slow brain changes, and improve symptoms. Participants must be 25 or older with a confirmed genetic diagnosis and a certain lev…

This study tests whether injecting a replacement enzyme directly into the eye can slow or stop vision loss in children with CLN2 Batten disease, a rare genetic disorder that causes blindness and brain damage. Five children aged 2 to 6 who already receive brain infusions of the en…

This study tests a single-dose gene therapy called LY3884963 in 35 people with frontotemporal dementia caused by GRN gene mutations. The therapy aims to raise levels of a missing protein (progranulin) in the brain. Participants receive the treatment via injection into the fluid a…

This expanded access program provides apitegromab, an experimental drug that blocks myostatin to help maintain muscle strength, to eligible patients with spinal muscular atrophy (SMA) before it is officially approved. Participants must be at least 2 years old and have a confirmed…

This study follows 403 adults and children with spinal muscular atrophy who are already taking risdiplam (Evrysdi) as prescribed by their doctor. Researchers will track side effects and how well the drug works over about two years. The goal is to see if risdiplam remains safe and…

This study tests a new drug called PRI-002 in 304 people with mild memory problems or early Alzheimer's. The drug aims to break apart harmful protein clumps in the brain that are linked to Alzheimer's. Researchers want to see if it is safe and can slow down memory and thinking de…

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This study tests whether deep brain stimulation (DBS) can improve thinking and memory in people with early Alzheimer's disease. Two participants will have electrodes implanted in a brain area that produces a key chemical for memory. The goal is to see if daily, one-hour stimulati…

This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder that affects movement and brain function. The drug aims to reduce the harmful effects of the mutated AT…

This study tests the drug risdiplam (Evrysdi) in infants up to 6 weeks old who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The goal is to see if early treatment can help them reach motor milestones like sitting without support. The trial involve…

This study tests a custom-made genetic medicine (called an antisense oligonucleotide) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare inherited brain disorder. The treatment aims to reduce seizures and improve quality of life. Only one participan…

This Phase 3 trial tests whether zilganersen (ION373) can improve or stabilize motor function in people with Alexander disease, a rare genetic brain disorder. Fifty-four participants aged 2 to 65 will receive either the drug or a placebo injected into the spine. The study measure…

This study tests whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This phase 2 trial is testing whether a combination of two drugs, dasatinib and quercetin, is safe and feasible for people with early-stage Alzheimer's or mild cognitive impairment. The drugs aim to clear aging 'senescent' cells that may contribute to brain damage. 48 participant…

This phase 3 trial tests whether the drug tofersen can delay or prevent ALS in adults who carry a SOD1 gene mutation but have no symptoms yet. About 158 participants will receive either tofersen or a placebo, and researchers will track how many develop ALS within two years. The g…

This phase 2 trial tests whether glycerol phenylbutyrate (GPB) can slow corticobasal syndrome (CBS), a rare and fast-progressing brain disease. 32 adults with CBS will receive either GPB or a placebo for 26 weeks. The main goal is to see if GPB lowers levels of a nerve damage mar…

This pilot study tests whether combining intensive hand-arm and leg therapy with strength training can improve motor function in children with spinal muscular atrophy (SMA). Five children will attend one 6-hour session each weekend for 15 weeks. Researchers will check if the ther…

This study is testing a new device called a multichannel vestibular implant for people who have lost most or all of their balance function due to inner ear damage. The implant electrically stimulates the balance nerve to help improve stability and vision during movement. Up to 30…

This study tests lecanemab, an antibody that targets amyloid plaques in the brain, in 40 people who carry a gene mutation that causes early-onset Alzheimer's. Participants previously received another anti-amyloid drug and will now receive lecanemab to see if it can fully clear am…

This expanded access program gave a single patient with Leber Hereditary Optic Neuropathy (a genetic cause of vision loss) an experimental gene therapy called GS010. The treatment was injected into both eyes to test safety. Only one person was involved, so the results are very li…

This study tests a personalized drug called nL-TUBB4-001, designed specifically for one child with TUBB4A-related leukodystrophy, a rare genetic disease that damages the brain. The drug is an antisense oligonucleotide, which aims to correct the genetic error. The trial will monit…

This Phase 2 trial tests whether a sleep-deepening drug (lower-sodium oxybate) or a nerve-stimulating device (non-invasive vagus nerve stimulation), or both, can help clear amyloid-beta protein from the brain in people with cerebral amyloid angiopathy (CAA). Sixty participants wi…

This study tests an experimental drug called ION363 in people with a rare, inherited form of ALS caused by FUS gene mutations. The goal is to see if the drug can slow the disease and help people live longer. About 89 participants will receive the drug via spinal injection. This i…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This long-term study is testing higher doses of nusinersen (Spinraza) in people with spinal muscular atrophy who already completed a previous nusinersen study. The main goal is to check safety over several years, including side effects, heart health, and growth. Participants rece…

This phase 3 trial tests a gene therapy called NR082 for Leber's hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. About 95 people aged 12 to 75 with a specific ND4 mutation will receive a single injection of the therapy or a sham procedure. T…

This study tests whether experimental drugs can slow down memory and thinking problems in people who have a gene mutation that causes Alzheimer's disease. About 490 adults aged 18-80 with this genetic risk are taking either a study drug or a placebo. The goal is to see if the dru…

This study tests whether two drugs, E2814 and lecanemab, can slow the progression of Alzheimer's in people who carry a gene mutation that causes the disease. About 197 participants will receive either the drugs or a placebo over 2 to 4 years. Researchers will measure changes in t…

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

This study tests whether using focused ultrasound to temporarily open the blood-brain barrier can safely help standard antibody therapy reach the brain in people with mild Alzheimer's or mild cognitive impairment. About 15 participants will receive the combined treatment. The goa…

This study gives one child with Cree Leukoencephalopathy (CLE) access to an experimental drug called fosigotifator. CLE is a rare, inherited brain disease that destroys white matter and leads to early death. The drug aims to slow or stop the damage, possibly easing symptoms and i…

This program offers early access to fosigotifator, an oral drug, for people with Vanishing White Matter or Cree Leukoencephalopathy—two rare, serious brain diseases. A doctor must decide if the potential benefit outweighs the risks for each patient. The drug is not yet approved, …

This early-stage study tests an experimental drug, ER2001, in 27 adults with early Huntington's disease. The main goal is to check if the drug is safe and how the body processes it. Participants receive either the drug or a placebo once a week for 6 weeks, with follow-up for 6 mo…

This study tests an experimental drug called DNL593 in healthy volunteers and people with frontotemporal dementia (FTD), a rare brain disease that causes personality changes and memory loss. The trial aims to check if the drug is safe, how the body processes it, and whether it mi…

This study follows 20 adults with CSF1R-related leukoencephalopathy, a rare genetic brain disease, who are scheduled for a stem cell transplant. Researchers will measure changes in thinking, movement, and brain scans over time to see if the transplant helps stabilize or improve s…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This early-stage study tests a one-time gene therapy injection into the spinal fluid of children aged 1-18 with CLN7 Batten disease, a rare and fatal genetic brain disorder. The main goal is to check safety, but researchers will also measure changes in movement, thinking, and vis…

This study gives one patient with Cree Leukoencephalopathy, a rare and fatal brain disease, access to an experimental drug called fosigotifator. The drug aims to slow or stop the brain damage that causes severe disability and early death. Researchers will track whether the patien…

This study tests a new drug called PMN310 in people with early Alzheimer's disease. The goal is to see if it is safe and if it can reduce signs of the disease in the brain. About 144 participants will receive multiple doses of the drug or a placebo. This is an early-phase trial, …

This early-stage trial tests a gene therapy called LX2006 in 8 people with Friedreich's ataxia who also have heart muscle disease. The therapy delivers a healthy copy of the FXN gene to heart cells using a modified virus. The main goal is to check safety over 5 years, while also …

This study tests whether metformin, a widely used diabetes drug, is safe for people with a specific genetic form of ALS (C9orf72). Over 24 weeks, 41 participants will take metformin to see if it reduces toxic proteins linked to the disease. The goal is to determine if metformin c…

This study follows 20 adults with spinal muscular atrophy (SMA) type II who are already taking SPINRAZA. Researchers will measure motor function using a 32-point scale over 27 months to see if the drug helps maintain or improve movement. The goal is to better understand how SPINR…

This study was designed to test a new gene therapy called ASP2016 for heart problems caused by Friedreich Ataxia, a rare genetic disease. The therapy aimed to deliver a healthy copy of the faulty gene to help the heart. However, the study was withdrawn before any participants wer…

This early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…

This study tests a new gene therapy called SKG0201 in 12 infants with spinal muscular atrophy type 1, a severe muscle-weakening disease. The treatment aims to improve survival and motor skills by delivering a working gene. Researchers are checking safety and how well the therapy …

This study looks at the long-term safety and effects of the drug votoplam in people with Huntington's disease. About 144 participants who finished a previous votoplam study will take part. The goal is to see how the drug affects Huntington's protein levels and brain changes over …

This study tests a single dose of AVASPA gene therapy given directly into the brain of children with Canavan disease, a rare and severe genetic disorder that damages white matter. The therapy aims to restore a missing enzyme to help the brain produce myelin and slow disease progr…

This study is testing the long-term safety of a drug called vatiquinone in 130 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. All participants have taken vatiquinone before in earlier studies. Researchers will track side effects and …

This study tests a custom-made drug called an antisense oligonucleotide in a single person with TUBB4A-related leukodystrophy, a rare genetic disorder that affects the brain's white matter. The drug is designed to target the specific genetic mutation causing the disease. Research…

This early-stage trial tests a one-time gene therapy called AMT-130, injected directly into the brain, to lower the production of the harmful huntingtin protein. It involves 43 adults with early Huntington's disease. The study is primarily checking safety, but also looks for sign…

This early-stage trial tests a gene therapy called AMT-162 in 20 adults with a specific genetic form of ALS (SOD1-ALS). The treatment is given as a single injection into the spinal fluid. The main goal is to check safety and tolerability, while also looking for early signs that i…

This study follows 7 people who previously received a gene therapy called AXO-AAV-GM2 for Tay-Sachs or Sandhoff disease — rare, fatal genetic disorders that destroy nerve cells. Researchers will track them for up to 5 years to see if the treatment remains safe and whether it help…

This Phase 2 trial tests an oral drug called FNP-223 in 241 people with progressive supranuclear palsy (PSP), a rare brain disorder that causes problems with balance, eye movement, and thinking. The study compares the drug to a placebo over 52 weeks to see if it can slow the dise…

This early-stage trial tests a single injection of gene therapy for people with SMARD1 or CMT2S, rare diseases caused by mutations in the IGHMBP2 gene. The therapy delivers a working copy of the gene directly into the spinal fluid. Ten participants, ranging from infants to childr…

This study follows 10 people with CLN6 Batten disease who received a single dose of gene therapy (AT-GTX-501) in an earlier trial. Researchers are checking long-term safety and how the disease progresses over time. No new treatment is given in this follow-up.

This study provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests an AI tool called AIDP that analyzes MRI scans to help diagnose Parkinson's disease and two similar conditions (MSA and PSP). Researchers at 21 sites will compare the AI's diagnosis to that of movement disorder specialists. The goal is to see if the tool can impr…

This study uses special brain scans (PET imaging) to measure amyloid buildup—a protein linked to Alzheimer's—in healthy older adults, people with mild memory problems, and those with dementia. Participants receive scans every 2-3 years for up to 20 years to see how amyloid change…

This study compares a new ultra-high resolution PET/CT scanner, the NeuroEXPLORER, with standard clinical PET/CT scanners for imaging the head and neck. Researchers aim to see if the new device provides more detailed images to improve diagnosis of conditions like dementia, Parkin…

This study is developing a web-based app that analyzes how you speak and remember things to quickly detect early cognitive problems like dementia or Alzheimer's. Researchers will enroll 500 people (healthy adults over 45 and those already diagnosed with mild cognitive impairment …

This study is testing whether a simple saliva sample can help diagnose amyotrophic lateral sclerosis (ALS). Researchers will analyze RNA in the saliva of 653 people, including ALS patients and healthy volunteers. If the test works, it could offer a faster, less invasive way to di…

This study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…

This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…

This study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests whether a pharmacist-led program to stop certain medications (anticholinergics) can lower dementia risk in older adults. 344 participants aged 65+ who take these drugs will be followed for 2 years, comparing cognitive changes and quality of life between those who…

This study tests if a drug called dalargin can prevent serious organ problems like kidney injury, lung failure, or heart damage after major abdominal surgery. About 200 adults having high-risk surgery will get either dalargin or a placebo for 3 days. The goal is to see if dalargi…

This study looks at whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…

This study looks at the long-term safety of valbenazine for people with Huntington disease who have involuntary jerking movements (chorea). It includes 7 participants from Canada who were in a previous valbenazine study. Everyone gets the drug, and researchers track side effects …

This study tests whether a safe, painless brain stimulation technique called tDCS can improve verbal learning in people with Alzheimer's disease. Researchers will compare active stimulation to a sham (fake) version in 90 participants with typical or language-based Alzheimer's. Th…

This study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…

This study tests whether combining music-based movement cues (patterned sensory enhancement) with mild brain stimulation can improve arm and hand function in people with corticobasal syndrome, a rare brain disorder. Twenty participants will be split into two groups: one receiving…

This study tests a new way to match dementia caregivers with each other for emotional support using a computer algorithm. Researchers want to see if matching based on personal preferences leads to better satisfaction and less stress than random matching. About 355 caregivers of p…

This study was designed to test whether a reusable pouch called DoddleBags could help people with Huntington's disease eat more easily and safely. The pouch holds pureed food and can be used with an anti-choking cap or spoon attachment. The trial was withdrawn before any particip…

This study tests whether a 12-week strength and functional exercise program, done at home via video calls with a physiotherapist, can improve walking, balance, and daily life in people with Hereditary Spastic Paraplegia (HSP). Twenty participants aged 16 to 70 will each experienc…

This study tests a 12-week online program for mothers of infants (12-36 months old) with SMA Type 1. The program aims to teach mothers how to support their baby's development and improve their own knowledge. Thirteen mothers will take part, with 10 receiving the program and 3 rec…

This study looks at whether adding a daily 30-minute muscle stimulation session can improve pain control and quality of life for people who already have a spinal cord stimulator (BurstDR) for chronic back pain. Sixty adults with failed back surgery syndrome or persistent spinal p…

This study tests whether deutetrabenazine can improve speech clarity and walking ability in people with Huntington disease. About 30 adults with early to moderate symptoms will take the drug and be evaluated using speech tests and motion capture technology. The goal is to see if …

This study looks at whether a ketogenic diet (high-fat, low-carb) is practical and safe for people with early-stage Alzheimer's disease over one year. The diet may provide an alternative energy source for the brain and reduce inflammation. Researchers will track diet adherence, b…

This study tests whether a home-based telenursing program, led by a specialist nurse, can improve quality of life and reduce complications like falls for people with atypical parkinsonism (MSA or PSP). About 164 participants will receive proactive and reactive remote monitoring a…

This study tests whether a non-invasive brain stimulation technique called theta-burst stimulation (TBS) can improve cognitive function in people diagnosed with young-onset Alzheimer's disease (before age 65). Seventy participants will receive TBS to a specific brain area, and re…

This study looks at whether a gentle brain stimulation technique (tDCS) combined with a special exercise program can reduce symptoms of spinocerebellar ataxia, a disease that affects coordination and balance. Fifteen adults who can walk (with or without help) will receive either …

This study looks at whether online community support and telemedicine can improve quality of life for people with Parkinson's disease, Lewy body dementia, and related conditions, as well as their caregivers. About 632 participants will receive palliative care training for their d…

This study is testing a device called MemorEM, which is a cap that sends low-level electromagnetic waves to the head. The goal is to get feedback from 1,000 patients with neurological diseases like Alzheimer's or Parkinson's, and their caregivers, on how easy the device is to use…

This study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study explores whether art therapy can help people with progressive supranuclear palsy (PSP) feel better and improve their daily life. Ten participants will take part in art sessions, and researchers will measure changes in quality of life, mood, and caregiver stress. The go…

This study explores whether a simple music activity—tapping along to rhythms together—can improve social attention and feelings of closeness in people with frontotemporal dementia or Alzheimer's disease, and their caregivers. Eighty patient-caregiver pairs will participate in a c…

This study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…

This study tests two types of speech therapy for people with primary progressive aphasia, a brain disorder that slowly destroys language skills. Sixty participants will work on word retrieval or script practice with a clinician and at home. Researchers will measure changes in com…

This study tests if shining a special near-infrared light on the head and through the nose can improve memory and brain function in older adults at risk for Alzheimer's disease. The treatment, called photobiomodulation, is low-risk and aims to boost brain cell energy. 168 partici…

This study tests whether combining speech therapy with a gentle brain stimulation technique (tDCS) can help people with primary progressive aphasia (PPA) communicate better. Ten participants will receive treatment at home via video calls. The goal is to see if this approach is fe…

This study tests a speech-language telerehabilitation program for people with primary progressive aphasia (PPA), a dementia that slowly destroys language abilities. The program includes online therapy sessions and care partner training. Researchers will enroll 21 participants to …

This study tests a wearable robotic exoskeleton called EXPLORER in 15 children with movement problems from conditions like cerebral palsy. The goal is to see if it helps them walk better in their everyday environments, such as home and the community. The study focuses on safety, …

This early-stage trial tests the drug dalfampridine (Ampyra), already used for multiple sclerosis, in 35 adults with primary lateral sclerosis or upper motor neuron ALS. The main goal is to see if it safely improves walking speed, measured by a timed 25-foot walk. Researchers wil…

This study follows 25 people with spinocerebellar ataxia type 7 (SCA7) for up to 5 years to learn how the disease changes vision, coordination, and thinking. Participants will have yearly eye exams, brain scans, and neurological tests. No treatment is given; the goal is to gather…

This study follows 125 people with Parkinson's disease or related conditions over two years. Researchers use special brain scans to measure changes in a chemical called acetylcholine, which is linked to walking problems, falls, and thinking skills. The goal is to understand how t…

This study follows 35 children with CLN2 disease (a rare, severe brain disorder) who are taking cerliponase alfa (Brineura). Researchers will monitor for side effects and serious reactions over time. The goal is to better understand the long-term safety of this enzyme replacement…

This study tests a short guide called the 'Jumpstart Guide' to help doctors have better conversations with dementia patients and their families about healthcare goals. Over 1,800 patients and their caregivers are taking part. Researchers will compare whether those whose doctors u…

This study looks at how adults at risk for Alzheimer's disease react after learning their amyloid and tau biomarker test results. Researchers will track changes in distress, stigma, quality of life, and future planning over time. The goal is to understand the psychological and be…

This study tracks a protein called neurofilament light chain in the blood of 342 people who carry genetic mutations linked to frontotemporal dementia (FTD). Participants provide blood samples every three months for three years, often from home. The goal is to see if this biomarke…

This study aims to identify biomarkers—biological clues in the body—that can help distinguish between Parkinson's disease and similar conditions like progressive supranuclear palsy and multiple system atrophy. Researchers will follow people with early-stage parkinsonism and healt…

This study follows 1,500 volunteers with normal memory, mild cognitive impairment, or Alzheimer's over several years. Researchers use brain scans, memory tests, and blood samples to track how the disease progresses. The goal is to find better ways to diagnose and treat Alzheimer'…

This study is observing 217 people with ALS and related conditions like frontotemporal dementia and hereditary spastic paraplegia. Researchers aim to connect each person's genetic makeup with their symptoms and find biological markers in blood and spinal fluid. No new treatments …

This study looks at people with ALS and similar diseases like frontotemporal dementia and hereditary spastic paraplegia. Researchers want to understand how genes affect the disease and find biological markers (biomarkers) to help develop future treatments. About 708 participants,…

This study enrolls people with ALS and related disorders, as well as healthy volunteers, to track biological markers (biomarkers) in urine, blood, and spinal fluid. The goal is to better understand how these markers change over time, which could help design more effective future …

This study uses special brain scans (MRS) to measure two natural chemicals, GABA and glutathione, in people with Friedreich's Ataxia (FRDA). Researchers want to see if these chemicals can serve as reliable markers of the disease and how they change after taking the drug Omaveloxo…

This study tests a new radioactive compound called F 18 T807 that lights up tau tangles in the brain during a PET scan. Researchers want to see if the amount of tau relates to memory and thinking problems in people with a rare, inherited form of Alzheimer's disease. About 130 adu…

This study uses a radioactive tracer called [18F]MK-6240 to take detailed pictures of tau protein clumps in the brain, a hallmark of Alzheimer's disease. Researchers will scan 200 people from families with a rare genetic form of Alzheimer's to see how tau buildup changes over tim…

This long-term study looks at children and adults with inherited nerve and muscle disorders that start early in life, like muscular dystrophy. Researchers will track symptoms over time and collect genetic samples from affected individuals, their family members, and healthy volunt…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study looks back at the medical records of 150 people diagnosed with Creutzfeldt-Jakob disease (CJD), a rare and fast-moving brain disorder. Researchers will examine symptoms, blood tests, spinal fluid, brain scans, and EEG results to find patterns that could help doctors di…

This study was designed to see if a smartphone app called iBlink can measure how well the brain learns new movements in people with spinocerebellar ataxia, a rare and serious movement disorder. Researchers planned to compare aerobic exercise with balance training to see which bet…

This study uses advanced MRI scans and genetic tests to track how neurodegenerative diseases like frontotemporal dementia and ALS spread across the brain's network. Researchers will follow 645 participants, including patients, family members, and healthy controls, for up to 2 yea…

This study looks at 40 people with early-stage Huntington's disease and healthy volunteers to see how well two types of brain scans can detect changes over 2 years. Participants get PET and MRI scans plus clinical exams at the start and after 2 years. The goal is to find better w…

This study checks whether a French version of a scale called PLSFRS works well for people with primary lateral sclerosis (PLS), a rare nerve disease. Researchers will ask 80 patients to fill out the questionnaire during routine check-ups every 3 to 6 months. The goal is to see if…

This observational study follows 37 children and young adults with juvenile-onset Huntington's disease (JoHD) to understand how their brains develop differently from adult-onset cases. Participants undergo cognitive tests, behavioral assessments, and MRI scans over time. The goal…

This study looks at how things like social support, income, and health habits are linked to mental health and brain diseases such as depression, Alzheimer's, and Parkinson's. Researchers will collect surveys, blood samples, and optional brain scans from over 1,300 adults in Europ…

This study is creating a simple test to check if people with Alzheimer's or similar conditions can understand and agree to medical decisions. Researchers will work with 100-150 participants to compare the new test with existing methods and look at brain scans and blood markers. T…

This study tests a lifestyle program for African American men who have finished prostate cancer treatment and their spouses or partners. The goal is to see if the program can improve quality of life, diet, physical activity, and partner support. Only 6 participants were enrolled,…

This study is building an online platform called DBS MatchMaker to connect doctors around the world who treat rare movement disorders with deep brain stimulation (DBS). The goal is to help doctors share knowledge and find the best ways to treat patients. Up to 500 people of all a…

This study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…

This study uses special brain scans (PET imaging) to measure two key proteins, amyloid and tau, in people with different forms of Alzheimer's disease. Researchers want to see how these protein levels change over one year. The study involves 60 adults with typical or atypical Alzh…

This study collects health information and test results from 317 people at high risk for pancreatic cancer, including those with cysts, genetic syndromes, or other risk factors. Researchers aim to build a database to find better ways to detect the disease early or prevent it. No …

This study aims to create more sensitive cognitive tests for Huntington's disease by combining brain imaging (PET and MRI) with blood markers. Researchers will study 90 participants—healthy controls, pre-symptomatic gene carriers, and early-stage patients—to understand how brain …

This study from Mayo Clinic is creating a large collection of blood, urine, stool, spinal fluid, and skin samples from 1000 people with ataxia and related genetic diseases, plus their healthy family members. The goal is to better understand the genetic and physical features of th…

This study uses a portable 48-hour EEG monitor to check for hidden seizures in people with early-onset Alzheimer's disease (ages 40-64). Researchers want to learn how common seizures and epilepsy are in this group. The study involves 20 participants and is purely observational, m…

This study brings together patient registries from 10 countries to analyze data from 700 people with spinal and bulbar muscular atrophy (SBMA). Researchers will look at changes in muscle function, walking ability, and age of symptom onset. The goal is to better understand how the…

This long-term study uses yearly brain scans, genetic tests, and thinking/memory assessments to track changes in nearly 1,800 people with various dementias (like Alzheimer's and vascular dementia) and over 140 healthy older adults. The goal is to better diagnose, monitor, and eve…

This study is analyzing blood samples from 1,799 people with Alzheimer's, dementia, depression, bipolar disorder, schizophrenia, or Parkinson's disease. Researchers want to see if certain substances in the blood can help doctors diagnose and manage these conditions more accuratel…

This study is testing whether wearable sensors can reliably monitor movement problems in people with progressive supranuclear palsy (PSP) and related frontotemporal disorders. About 60 participants will wear pendant-like devices for 12 months to track their activity. The goal is …

This study follows 200 African American prostate cancer survivors and their partners to understand how daily stress, social support, and lifestyle choices like physical activity and diet affect each other. Participants wear an activity tracker and answer surveys on their smartpho…

This study follows 432 adults who were in the ICU after a traumatic injury or burn. Researchers want to see if and why patients develop long-term problems with memory, thinking, and daily function. By tracking cognitive skills and inflammation over time, they hope to uncover link…

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study follows 1000 people with upper motor neuron disease who are about to receive the Cionic Neural Sleeve. The sleeve uses electrical stimulation to help muscles contract at the right time during movement. Researchers will track changes in health-related quality of life us…

This study looks at brain tissue and lab-grown nerve cells from people with schizophrenia, depression, bipolar disorder, frontotemporal dementia, and Alzheimer's. Researchers want to find out how problems with synapses—the connections between brain cells—differ in these condition…

This study aims to learn more about diseases that affect the brain, such as Parkinson's disease and different types of dementia. Researchers will follow 500 adults with symptoms of these conditions over time, using brain scans and genetic tests to see how the diseases progress. T…

This study looks at how children with CLN2 Batten disease develop over time, including their thinking, language, and motor skills. Researchers will compare children who receive treatment (cerliponase alfa) with those who do not. The goal is to find better ways to measure the dise…

This study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …

This study looks at whether a power wheelchair that can lift a child from sitting to standing is practical for kids with conditions like cerebral palsy, spinal cord injuries, or genetic diseases. Only 4 children aged 5-17 are taking part. The goal is to see if the chair helps the…

This study follows 35 infants with spinal muscular atrophy (SMA) who are receiving gene therapy or other advanced treatments. Researchers use small wearable motion sensors to measure how well the babies move their arms and legs over two years. The goal is to create a more precise…

This study tests two types of hyperextension braces (Jewett and Spinomed) on 30 healthy adults aged 18-35. Researchers measure how much each brace limits spinal movement and affects posture during daily activities like standing and squatting. The goal is to provide clear data to …

This observational study looks at how brain inflammation contributes to frontotemporal lobar degeneration (FTLD), a group of disorders that cause dementia. Researchers will use advanced brain scans, blood tests, and spinal fluid analysis in 110 participants to find biomarkers tha…

This study is a registry that collects information on up to 600 children in China with spinal muscular atrophy (SMA). It aims to describe how the disease progresses and how treatments are used in everyday medical practice. The study does not test a new drug but gathers data to be…