Inherited neurodegenerative disorder

This Phase 1 trial tests an experimental vaccine called AV-1980R that targets tau protein, a key player in Alzheimer's disease. The study enrolls 48 cognitively healthy adults aged 65-80 who have biological signs of early Alzheimer's. Researchers will check if the vaccine is safe…

This phase 2 trial tests a powerful mix of short-course radiation, chemotherapy (mFOLFOX6), an immunotherapy (PD-1 antibody), and a targeted drug (cetuximab or bevacizumab, depending on genetic markers) in people with high-risk rectal cancer that is mismatch repair proficient (pM…

This clinical trial tests an oral drug called SKY-0515 in 400 adults with Huntington's disease. The goal is to see if it can lower harmful proteins linked to the disease and improve symptoms like movement and thinking. Participants take the drug or a placebo daily for 18 months.

This study tests an experimental drug, fosigotifator, in adults and children with Vanishing White Matter disease, a rare genetic brain disorder. The main goals are to check the drug's safety and how the body processes it. About 50 participants will take the drug for up to 201 wee…

This Phase 3 trial tests whether adding immunotherapy and a targeted drug to short-course radiotherapy and chemotherapy improves outcomes for people with high-risk rectal cancer. About 204 participants will receive either the standard treatment or the intensified combo. The study…

This study is testing an experimental drug called DNL628 in people with early-stage Alzheimer's disease. The main goal is to see if the drug is safe and how the body processes it. About 68 participants will receive either DNL628 or a placebo. This is an early-phase trial, so it f…

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 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 study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This early study tests whether a smart brain implant can help people with spinocerebellar ataxia type 6, a condition that causes trouble with balance and coordination. Five adults will get the implant, which records brain signals and adjusts stimulation automatically. The goal is…

This early-stage study tests a new drug called RG6496 in people who carry the gene for Huntington's disease. The main goal is to check if the drug is safe and how the body handles it. About 40 participants will receive a single dose injected into the spine, with some getting a pl…

This early-stage study tests a new medicine called PYC-001, given as an injection into the eye, for people with a rare genetic eye disease (autosomal dominant optic atrophy) caused by a change in the OPA1 gene. The main goal is to check the safety of different doses and schedules…

This phase 3 trial compares a new drug, BMS-986365, against standard treatments (docetaxel or other hormone therapies) in 960 men with metastatic castration-resistant prostate cancer that has stopped responding to hormone therapy. The main goal is to see if the new drug delays ca…

This study is testing whether stem cells taken from a person's own bone marrow and then given back through the veins and nose can improve brain and nerve function. It includes 500 people with various conditions like stroke, Parkinson's, Alzheimer's, and nerve damage. The goal is …

This study tests a new drug called tulmimetostat combined with standard hormone therapies (darolutamide or abiraterone) in men whose prostate cancer has spread but still responds to hormone treatment. The goal is to see if the combination is safe and works better than standard ca…

This study tests a new drug called ARO-MAPT-SC in healthy people and those with early Alzheimer's. The goal is to check if it is safe and how the body processes it. Participants receive either the drug or a placebo by injection under the skin. The trial is still in early stages, …

This phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…

This study tests a new drug called AZD9750, alone or with another drug (saruparib), in 300 men with metastatic prostate cancer that has progressed despite standard treatments. The goal is to check safety, find the right dose, and see if it can lower PSA levels, a marker of cancer…

This Phase 3 trial tests whether the drug votoplam can slow the progression of Huntington's disease in people with early symptoms. About 770 adults aged 21 to 70 with a confirmed genetic diagnosis will receive either votoplam or a placebo. The main goal is to see if votoplam pres…

This trial tests a gene therapy for metachromatic leukodystrophy (MLD), a rare and life-threatening genetic disorder that damages the nervous system. The treatment uses a lentivirus to deliver a working copy of the ARSA gene directly into the spinal fluid and bloodstream. Up to 1…

This study tests an experimental drug called NIO752 in 300 people with progressive supranuclear palsy (PSP), a rare brain disorder that affects movement and balance. Participants are randomly assigned to receive either the drug or a placebo. After the main study, everyone can rec…

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 early-phase trial is testing a gene therapy called SGT-212 for Friedreich's ataxia, a rare genetic disease that damages the nervous system. Ten adults with the condition will receive the therapy through an injection into the brain and a vein. The main goal is to see if it is…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This study tests an oral drug called nizubaglustat in children and teens with rare genetic disorders (GM1, GM2 gangliosidosis) that damage the brain and nerves. The goal is to see if the drug can slow disease progression and improve movement and coordination. About 75 participant…

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

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 whether omaveloxolone, a drug already approved for people 16 and older with Friedreich's ataxia, can safely help children aged 2 to 15. About 255 participants will first receive either the drug or a placebo for a year, then all will receive the drug for two more …

This early-stage study tests an experimental drug called ALN-HTT02 in 66 adults with Huntington's disease. The drug is given as a single injection into the spine to see if it is safe and how it affects the body. The goal is to reduce levels of the harmful protein that causes the …

This early-stage trial tests a drug called ALN-APP (mivelsiran) in 60 adults with mild cognitive impairment or mild dementia due to early-onset Alzheimer's disease. The drug is given via a spinal injection to see if it safely lowers certain proteins linked to Alzheimer's in the b…

This early-stage trial tests the safety and tolerability of a new drug called VX-670 in 52 adults with myotonic dystrophy type 1 (DM1), a genetic condition that causes muscle weakness and other problems. Participants receive either VX-670 or a placebo, and researchers will monito…

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 tests a new drug called SRP-1005 in 32 adults with Huntington's disease. It is the first time this drug is being tested in humans, so the main goal is to check safety and how the body processes the drug. Participants will receive either SRP-1005 or a placebo by injecti…

This study tests an experimental drug called PrP-siRNA in 30 adults with symptomatic prion disease, a rare and fatal brain condition. The drug is given via a spinal injection and aims to reduce the harmful prion protein in the brain. The main goal is to check safety and find the …

This early-stage trial tests a drug called atipeksen for people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and coordination. The drug is designed to fix a specific genetic error in the ATM gene and is given via spinal injection. The study will …

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 is testing the long-term safety and effectiveness of an experimental drug called CTI-1601 for people with Friedreich's ataxia, a rare genetic disease that affects movement and heart function. It includes about 85 adolescents and adults who have or have not taken the dr…

This study tests whether a non-invasive brain stimulation technique called repetitive transcranial magnetic stimulation (rTMS) can slow cognitive decline in people with early Alzheimer's disease. The treatment targets a key brain region affected by Alzheimer's. Fifty-five partici…

This study tests a new gene therapy called SPK-10001 for people with Huntington's disease. It involves a one-time infusion into specific areas of the brain. The main goal is to see if it is safe and if it can slow down the worsening of movement and daily function. About 53 adults…

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 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 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 phase 3 trial tests a one-time gene therapy called MELPIDA for children with SPG50, a rare genetic disease that causes progressive paralysis and developmental delays. The study will give the treatment via a spinal injection to 24 children aged 4 months to 6 years and compare…

This early-stage study tests a new drug called LY3954068 in 48 people with mild Alzheimer's symptoms. The drug is given directly into the spinal fluid, either once or twice, to see if it is safe and how it affects Alzheimer's markers. The study lasts up to 100 weeks and includes …

This study tests a gene therapy called BBP-812 in children up to 30 months old with Canavan disease, a rare genetic brain disorder. The treatment uses a harmless virus to deliver a working copy of the ASPA gene, aiming to reduce harmful brain chemicals and improve motor and think…

This phase 3 trial tests a single dose of NTLA-2001, a gene-editing therapy, in 60 adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a rare genetic disease that damages nerves. Participants are randomly assigned to receive either the active treatmen…

This study tests whether adding low-dose radiation to the drug elranatamab can better kill cancer cells in people with multiple myeloma that has come back or not responded to treatment and has spread outside the bone. About 34 adults will receive the combination. The goal is to s…

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 early-phase trial tests whether implanting human neural stem cells into the brain is safe for people with Huntington's disease. Twenty-one adults with confirmed Huntington's will receive the stem cell therapy and be monitored for side effects over 12 weeks and up to a year. …

This early-phase trial tests a gene therapy called AVB-101 for people with frontotemporal dementia caused by GRN gene mutations. The therapy delivers a working copy of the GRN gene directly into the brain during a one-time procedure. The study will enroll 18 adults aged 30-75 to …

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 study tests a combination of four drugs (sintilimab, ipilimumab, cetuximab, and dabrafenib) in people with a specific type of advanced colorectal cancer that has a BRAF V600E mutation and is microsatellite stable. These cancers are hard to treat and don't respond well to sta…

This study tests whether a device that flashes light and plays sound at a specific frequency (40Hz) can help people with mild Alzheimer's. Sixty participants will use the device at home for an hour each day over six months. Researchers will check brain waves, memory, and blood ma…

This early-stage trial tests a gene therapy called AAVrh.10hFXN for heart problems caused by Friedreich's ataxia, a rare genetic disease. The therapy delivers a working copy of the frataxin gene to help heart cells function better. 25 people aged 12 to 50 with heart involvement w…

This phase 2 trial tests two oral drugs, bicalutamide and abemaciclib, in 53 women with a specific type of advanced breast cancer called androgen receptor-positive triple-negative breast cancer. The goal is to see if the combination can stop the cancer from growing for at least 1…

This study is testing the long-term safety of an experimental drug called PGN-EDODM1 in 48 adults with myotonic dystrophy type 1 (DM1) who have already taken the drug in a previous study. Participants will receive the drug by IV infusion and be monitored for side effects. The goa…

This phase 2 trial is testing a new approach for people with a specific type of rectal cancer that has spread to a few other spots in the body (oligometastases). The treatment combines short-course radiotherapy, chemotherapy (CAPEOX), and an immunotherapy drug called serplulimab …

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 program offers early access to zilganersen for people with Alexander disease, a rare genetic brain disorder. It is for US residents aged 2 and older who have not responded to or cannot tolerate approved treatments. The goal is to provide the drug while it is still being stud…

This early study tests whether a deep brain stimulator placed in the cerebellum can safely improve movement and balance in 5 adults with spinocerebellar ataxia type 6. The device automatically adjusts its stimulation based on the person's brain signals. The goal is to see if this…

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 follows 15 adults (ages 22–90) with severe, long-term balance disorders caused by inner ear damage. Participants have already received a vestibular implant, a device that electrically stimulates the balance nerve to help restore steadiness and clear vision during movem…

This study is for people with a certain type of locally advanced rectal cancer (pMMR/MSS) that often doesn't respond well to immunotherapy alone. The trial combines an immunotherapy drug (serplulimab) with chemotherapy (CAPEOX) and an anti-inflammatory drug (celecoxib) to see if …

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 tests a gene therapy called GS010 for people with Leber hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. Researchers will give the treatment as an injection into the eye at two different doses to see if it improves vision and mitoc…

This program provides an experimental drug, levacetylleucine, to people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and immunity. It is for patients who cannot join clinical trials and have no other good treatment options. The goal is to offer p…

This study tests whether adding urea to the dialysis fluid can prevent dialysis disequilibrium syndrome — a set of neurological symptoms like headache, confusion, and seizures — in people with kidney failure who need urgent dialysis for severe electrolyte problems. Researchers wi…

This early-stage trial tests a drug called NIO752, given via spinal injection, to see if it can reduce production of tau protein in the brain. Tau buildup is linked to Alzheimer's damage. Ten people with mild to moderate Alzheimer's will receive either NIO752 or a placebo, and re…

This study tests a new drug called TCC1727 combined with other medicines (benmelstobart, olaparib, or topotecan) in people with advanced solid tumors, including lung, stomach, endometrial cancer, and melanoma. The goal is to find the safest dose and see if the combination helps s…

This early-stage trial tests a new medicine called IMSB301 in people with rare diseases where the immune system attacks the body. The study includes up to 6 participants aged 12 and older. The main goal is to check if the drug is safe and how it behaves in the body.

This study checks the long-term safety of tofersen (Qalsody) in 12 Chinese adults with a specific genetic form of ALS (SOD1-ALS). Participants receive 13 doses of the drug injected into the spine over about a year. The main goal is to track any side effects and how the drug moves…

This study follows 175 people with spinal muscular atrophy who previously received the gene therapy Zolgensma in clinical trials. Researchers will monitor them for 5 years to track serious side effects and developmental milestones. The goal is to understand how safe and effective…

This study tests a vestibular implant in 15 older adults (ages 65-90) with chronic balance issues due to bilateral vestibular hypofunction. The implant electrically stimulates the inner ear to improve balance and vision. Researchers will measure changes in gait and eye reflexes o…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study tests a vestibular implant, a device surgically placed in the inner ear to electrically stimulate balance nerves. It aims to improve balance, posture, and vision in up to 8 adults with bilateral vestibular hypofunction, a condition causing chronic dizziness and instabi…

This expanded access program offers the investigational drug troriluzole to people with spinocerebellar ataxia (SCA), a rare brain disorder that affects movement and coordination. Participants take a daily pill. The goal is to provide access to the drug while it is still being st…

This early study tests a one-time gene therapy injection under the retina for children with CLN2 Batten disease who already receive enzyme therapy. The main goal is to check safety in 16 participants, with a secondary look at whether it can preserve vision. It is a first-in-human…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This early-stage study tests a new medicine called ION356 in 24 boys aged 2 to 17 with Pelizaeus-Merzbacher disease, a rare genetic brain disorder. The main goal is to check if the drug is safe and how the body processes it. The drug is given through a spinal injection to target …

This Phase 3 trial tests whether fampridine can improve movement and vision in people with spinocerebellar ataxia SCA27B, a rare genetic condition that affects balance and coordination. About 70 adults will take either fampridine or a placebo twice daily for 12 weeks. The main go…

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…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This early study tests a spinal cord stimulation therapy called ARC-IM in 5 people with Parkinson's disease or related conditions who experience severe drops in blood pressure when standing (orthostatic hypotension). The main goal is to check safety, and researchers will also mea…

This Phase 3 study tests whether the drug leriglitazone can help adult men with cerebral adrenoleukodystrophy (cALD), a rare and serious brain disease. The main goal is to see if the drug delays death or the need for permanent breathing support compared to a placebo. About 40 men…

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 early-stage trial tests an oral drug called verdiperstat in 64 people with semantic variant primary progressive aphasia (svPPA), a rare dementia that affects language. The study is double-blind and placebo-controlled, meaning some participants get the drug and some get a pla…

This study tests whether the insomnia medication lemborexant (Dayvigo) can lower blood markers of brain damage in adults aged 40–65 with insomnia. Twenty participants will take the drug or a placebo for two weeks each, then have their blood tested for proteins linked to Alzheimer…

This study tests an experimental drug called THN391 in 15 people with early Alzheimer's disease who also have small vessel disease in the brain. Participants receive three monthly IV infusions of either THN391 or a placebo. The main goal is to check safety and how the drug behave…

This trial tests a gene therapy for X-linked adrenoleukodystrophy (X-ALD), a rare genetic disease that damages the brain. The therapy uses a modified virus to deliver a working copy of the faulty gene directly into the spinal fluid and bloodstream. Up to 30 patients aged 1 year a…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

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 early-phase study tests a radioactive tracer called 11C-M503 to see if it can detect abnormal alpha-synuclein protein clumps in the brain, which are linked to Parkinson's disease and multiple system atrophy. About 70 adults aged 40-85 with Parkinson's, multiple system atroph…

This study is testing a non-invasive eye camera that takes pictures of the retina using different colors of light. Researchers want to see if these images can help detect signs of Alzheimer's, Parkinson's, and other neurodegenerative diseases. About 930 adults over age 30 with or…

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 is testing whether new blood tests can accurately diagnose the cause of memory loss or dementia, potentially replacing the need for a spinal tap. Researchers will compare blood test results with standard spinal fluid tests in 1,200 people at a memory clinic. If success…

This study aims to make it easier for family doctors to detect early signs of Alzheimer's and other dementias. Researchers will test 1,200 adults with memory or thinking problems using blood tests and brain scans. The goal is to see if these tools can accurately identify who has …

This study is testing a new blood test to help doctors diagnose Parkinson's disease and similar brain disorders more accurately and earlier. Researchers will use a technique called RT-QuIC to detect misfolded proteins in blood samples from 458 participants, including healthy peop…

This study aims to find the best cutoff values for key Alzheimer's-related proteins in spinal fluid and blood to improve diagnostic accuracy. Researchers will compare results from Alzheimer's patients, those with mild memory problems, people with other dementias, and healthy olde…

This study is testing a new blood test called the AD-seeds-detector that looks for specific protein clumps linked to Alzheimer's disease. Researchers will compare the test results from 1,500 people aged 55-75, including those with Alzheimer's, other dementias, and healthy individ…

This study is testing a new serious game called REALSoCog to see if it can detect social behavior problems in people with Alzheimer's, Lewy body dementia, or frontotemporal degeneration. Researchers will ask 120 patients to play the game on a laptop, which presents 16 social situ…

This early-stage study tests a new radioactive tracer called [11C]CHDI-00491009 to see if it can safely and accurately detect harmful protein clumps (mutant huntingtin) in the brains of people with Huntington's disease. The study involves 27 participants, including healthy volunt…

This study is testing whether artificial intelligence can help diagnose Parkinson's disease by analyzing facial expressions and speech patterns. Researchers will record videos of 720 participants, including people with Parkinson's and similar conditions, as well as healthy volunt…

This early-phase study tests two new imaging drugs, [18F]ABBV-964i and [18F]ABBV-965i, designed to light up tau protein buildup in the brain during a PET scan. Tau buildup is linked to Progressive Supranuclear Palsy (PSP), a rare movement and thinking disorder. The trial includes…

This early-phase study tests a new radioactive tracer called 18F-JSS20-183A to see if it can safely and accurately detect abnormal tau protein in the brain during PET scans. Researchers will study 90 adults aged 40-85 with tauopathies (like PSP, Alzheimer's, or Parkinson's) and h…

This study looks at whether a newer type of brain scan (Tau-PET) helps doctors diagnose Alzheimer's disease more accurately than the standard scan (Amyloid-PET). About 120 adults aged 50-85 with mild memory or thinking problems will get both scans. Researchers will track how ofte…

This study is testing a new, non-invasive eye scan to see if it can detect Parkinson's disease in its early stages. Researchers will compare the eye scan results with standard brain imaging in 200 participants, including people with early Parkinson's, related movement disorders, …

This early-phase study tests a new radioactive tracer called 11C-HY-2-15, designed to detect abnormal alpha-synuclein protein in the brain. Researchers will scan 70 adults with multiple system atrophy, Parkinson's disease, progressive supranuclear palsy, or healthy volunteers to …

This study tests whether the drug remternetug can prevent or slow the buildup of harmful proteins in the brains of people who have a genetic mutation that almost always causes early-onset Alzheimer's. About 280 participants will receive either the drug or a placebo every 12 weeks…

This study tests a drug called remternetug in people who have a strong genetic risk for Alzheimer's but do not yet have symptoms. The goal is to see if the drug can prevent or slow the buildup of harmful proteins in the brain. About 280 participants will receive either the drug o…

This study tests whether daridorexant, a sleep medication, can help the brain clear proteins linked to Alzheimer's disease. The trial includes 240 adults without dementia, regardless of sleep issues. Participants take the drug or a placebo nightly for one year, and researchers me…

This study tests whether a non-invasive brain stimulation technique called HD-tDCS can improve visual and thinking abilities in people with posterior cortical atrophy (PCA), a rare condition often linked to Alzheimer's. Fifty participants will receive either real or sham stimulat…

This study tests whether a personalized form of transcranial magnetic stimulation (TMS) can improve motor and non-motor symptoms in people with Parkinson's disease, multiple system atrophy, or progressive supranuclear palsy. Fifty participants will receive 10 days of targeted TMS…

This study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…

This study tests a speech therapy program for bilingual Spanish-English or Spanish-Catalan speakers with primary progressive aphasia, a condition that slowly damages language abilities. Sixty participants will receive personalized script training via video sessions, while 30 othe…

This study tests a non-invasive brain stimulation technique called temporal interference stimulation (TIS) to see if it can improve cognitive function in people with mild cognitive impairment or early Alzheimer's disease. Sixty participants will receive either real TIS or a sham …

This early study tests a virtual reality rehabilitation device for children with spinal muscular atrophy (SMA), a genetic condition that causes progressive muscle weakness. The device uses games, muscle sensors, and a grip-strength ball to make home exercises more engaging. Resea…

This study tests two types of speech therapy for adults with mild-to-moderate primary progressive aphasia, a condition that slowly impairs language. Researchers will compare the therapies in 200 participants to see which better improves communication and reduces caregiver burden.…

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 Phase II trial tests whether a safe, non-invasive brain stimulation technique called tDCS, combined with language therapy, can improve word-finding in people with primary progressive aphasia (PPA). The study enrolls 180 adults aged 50–90 with certain types of PPA. Participan…

This study is testing whether computerized brain training (BrainHQ) and Tai Chi-Qi Gong can improve memory, thinking, and mood in people with early-onset Alzheimer's disease. Sixty participants aged 40-64 will be assigned to either the training program or an active control group.…

This study tests whether adding electroconvulsive therapy (ECT) to usual care can safely reduce severe agitation in people with moderate to severe dementia, including Alzheimer's and other types. Fifty participants will receive ECT sessions with anesthesia, and researchers will m…

This early-stage trial tests whether low-intensity focused ultrasound (LIFU) can safely improve motor symptoms in 24 adults with Huntington's disease. Participants receive ultrasound pulses to a brain region involved in movement control. The study focuses on safety and finding th…

This study examines whether the drug omaveloxolone can ease swallowing difficulties in people with Friedreich's ataxia, a rare nerve disease. About 40 French patients who have taken the drug for at least six months will fill out a swallowing questionnaire. The goal is to see if t…

This study tests whether a non-invasive brain stimulation technique called tDCS, combined with cognitive training, can improve thinking skills and mood in people with mild cognitive impairment or early dementia. Fifty participants will receive both real and placebo stimulation in…

This study tests a personalized, virtual speech therapy program for people with primary progressive aphasia (a type of dementia that affects language) and their communication partners. The goal is to see if the program improves communication and quality of life. About 30 particip…

This study tests a noninvasive spinal cord stimulation (tSCS) to improve walking and reduce muscle stiffness in 15 adults with hereditary spastic paraplegia (HSP), a rare nerve condition. Participants receive stimulation through skin electrodes on the lower back twice a week for …

This study tests a drug called neflamapimod in 20 people with a language disorder called nonfluent variant primary progressive aphasia (nfvPPA). The goal is to see if the drug is safe and if it can improve language symptoms. Participants will receive either the drug or a placebo …

This study tests whether two types of non-invasive brain stimulation—TMS and tDCS—can slow language decline in people with primary progressive aphasia, a condition that gradually impairs speech and understanding. Over 6 months, 80 participants will receive either real or sham sti…

This study tests whether a non-invasive brain stimulation technique called tACS can safely improve thinking and memory in people with frontotemporal dementia (FTD). Thirty adults with FTD will receive both real and sham (fake) stimulation in a crossover design, so each person act…

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 compares two types of exercise-video game (exergame) programs for people with Huntington's disease. One program mixes physical and mental exercises together, while the other does them separately. Researchers want to see which approach improves balance, thinking, and da…

This study tests whether the antidepressant vortioxetine can improve mood symptoms and thinking abilities in people with early-stage behavioral variant frontotemporal dementia (bvFTD). Participants will take the medication for 12 weeks and undergo brain scans and memory tests bef…

This study tests personalized speech therapy delivered online for people with primary progressive aphasia (PPA), a condition that slowly destroys language skills. Researchers will enroll 30 adults with mild PPA and tailor exercises to their specific variant. The goal is to see if…

This study compares two approaches for treating newly diagnosed Alzheimer's disease: the drug donepezil versus a non-drug approach using cognitive stimulation or remediation. Researchers will measure changes in thinking and memory over 6 months in 240 participants aged 50 and old…

This study tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…

This study is testing whether a gentle brain stimulation device (tDCS) used at home is safe and acceptable for people with early-to-moderate Huntington's disease. Ten participants will use the device daily for several weeks while researchers track side effects, mood, thinking ski…

This pilot study tests whether a gentle brain stimulation device (tDCS) used at home can help with cognitive and behavioral symptoms in Huntington's disease. Sixteen adults with early to moderate Huntington's will use the device daily for 30 minutes, alternating between real and …

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 if focused or radial shockwave therapy can improve erectile dysfunction and chronic pelvic pain better than a fake (sham) treatment. It includes 186 men, some with a history of prostate cancer. Participants will receive several sessions of shockwave or sham thera…

This pilot study tests whether scrambler therapy, a device that uses mild electrical signals on the skin, can reduce nerve pain in people with corticobasal syndrome (CBS). Twenty-five adults with CBS and moderate-to-severe pain will be randomly assigned to receive either scramble…

This study is testing whether a safe, non-invasive brain stimulation technique called rTMS can help people with frontotemporal dementia (FTLD) or those at risk. 120 participants will receive either real or placebo stimulation for 2 weeks, then all will get real stimulation. Resea…

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 pilot study is testing whether adding music therapy to standard care can reduce irritability and impulsivity in 15 people with early-stage Huntington's disease. Participants will use a digital music therapy tool over 3 months. The goal is to find a safe, non-drug way to mana…

This study tests whether a non-invasive brain stimulation technique called tDCS, applied while people walk, can improve motor skills like gait, speech, and eye movements. Twenty adults with progressive supranuclear palsy, corticobasal degeneration, or Parkinson's disease will rec…

This study compares two surgeries for stress urinary incontinence (leaking urine when coughing or sneezing) in women. One method uses a synthetic mesh sling, while the other repairs natural tissues without mesh. Researchers will track symptom improvement, recovery time, pain, and…

This study tests whether a computer-based training program can help people with Huntington's disease better understand others' emotions and social cues. Twenty participants will use the program at home and come in for follow-up visits. The goal is to see if this approach is pract…

This study tests a special fabric shoulder brace designed to mimic muscle support for people with neuromuscular disorders like muscular dystrophy, SMA, and ALS. About 30 participants will wear the brace and perform arm tasks to see if it improves movement, strength, and daily fun…

This study is testing a smartphone app called MindTrails-Movement to see if it can help reduce anxiety in people with Huntington's or Parkinson's disease. The app uses a technique called cognitive bias modification for interpretation (CBM-I) to train users to think less negativel…

This study tests a video-based program called STELLA-FTD that helps family members caring for a loved one with frontotemporal dementia (FTD). The program teaches caregivers how to manage difficult behaviors and connect with community resources. Researchers will enroll 640 caregiv…

This study tests whether a mild electrical brain stimulation technique called tDCS can improve swallowing difficulties in people with Parkinson's disease. 58 participants will receive either real or sham tDCS alongside standard swallowing therapy. Researchers will measure changes…

This study tests whether a gentle, non-invasive brain stimulation technique called tACS can improve memory and thinking in people with Alzheimer's disease, frontotemporal dementia, Lewy body dementia, and related conditions. Two hundred participants will receive either real or sh…

This study uses special PET scans to measure inflammation in the brains of people with Alzheimer's, Parkinson's, ALS, and other neurodegenerative diseases. Researchers will compare these scans to those from healthy volunteers to see if inflammation levels differ. The goal is to d…

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 follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

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 enrolls 600 adults with Huntington disease to examine specific genetic markers (SNPs) linked to the disease. Participants provide a blood sample and answer questions about their health and medications. The goal is to better understand the genetics of Huntington disease…

This study examines whether a person's personality traits before they got sick are linked to the thinking and behavior problems seen in certain brain disorders. Researchers will ask caregivers about the patient's personality from the 10 years before the illness started. The goal …

This study looks at how differences in the NOTCH2NLC gene affect the symptoms and course of neuronal intranuclear inclusion disease (NIID), a rare inherited brain disorder. Researchers will follow 12 members of one family, including those with NIID, gene carriers without symptoms…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study follows 650 people aged 8 to 99 with androgen insensitivity syndrome (AIS) to better understand their long-term health. Researchers will track hormones, bone density, heart health, metabolism, and tumor risk through regular check-ups and scans. No treatments are being …

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 tests a new, non-invasive MRI technique to detect early brain changes linked to Alzheimer's disease. Researchers will compare brain scans from 50 people with mild memory concerns to healthy volunteers. The goal is to find a simple, affordable way to identify those at r…

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 aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study follows 65 people with Friedreich ataxia who also have a thickened heart muscle (cardiomyopathy). Researchers will measure changes in heart structure over time using imaging. The goal is to better understand how heart disease progresses in this condition, which could h…

This study follows 20 adults with multiple sclerosis who are already scheduled for a stem cell transplant. Researchers will measure levels of an immune-suppressing drug called ATLG and track how the immune system rebuilds itself afterward. The goal is to learn more about immune r…

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

This study looks back at 483 patients who had small rectal neuroendocrine tumors (less than 2 cm) removed using one of two endoscopic techniques: endoscopic submucosal dissection (ESD) or endoscopic partial muscle resection (EPMR). The goal is to compare how often each method lea…

This study looks at why people with Alzheimer's disease may move more slowly. Researchers will use brain MRI scans and simple reaction time tests in 155 participants with mild cognitive impairment or early dementia. The goal is to link brain lesions to attention-related motor slo…

This study follows 20 people from families with a genetic risk for frontotemporal dementia (FTD), including those already diagnosed and those at risk. Over five years, researchers will track changes in health and brain function to better understand how the disease develops. The g…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

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 whether special brain cells called tanycytes play a role in Alzheimer's disease and frontotemporal dementia. Researchers will measure hormone levels in blood and spinal fluid from 102 participants to see if these cells help control metabolism and hormone signa…

This study aims to find genes that increase the risk of developing Alzheimer's disease. Researchers are recruiting 10,000 people, including those with Alzheimer's and their family members, from all ethnic backgrounds. By analyzing DNA, they hope to discover new genetic clues that…

This study looks at whether new, quick tests that measure how fast people can move can help doctors diagnose brain diseases like Alzheimer's and predict recovery after a stroke. Researchers will test 129 adults aged 40-85 with stroke or memory problems. The goal is to see if thes…

This long-term study follows 700 adults who carry a rare genetic mutation that causes early-onset Alzheimer's. Researchers collect blood, spinal fluid, brain scans, and cognitive tests to find biomarkers that signal the disease before memory loss begins. The goal is to improve ea…

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 a national registry for people with adrenoleukodystrophy (ALD), a rare genetic disorder. Researchers will collect medical records and survey data from up to 1,000 patients and their families over time to understand how the disease progresses. The goal is to find bet…

This study is testing a new memory test called MAI in 60 adults aged 70 and older. Half have memory disorders like Alzheimer's, and half do not. The goal is to see if the test can tell the difference between the two groups and help doctors detect memory problems earlier.

This study looks at how the brain plans and produces speech in people who stutter, those with primary progressive aphasia, and healthy speakers. Participants will practice saying made-up words with tricky sound combinations while researchers measure brain activity with MRI and tr…

This study uses special PET scans to measure tau protein buildup in the brains of 332 people with Progressive Supranuclear Palsy (PSP), a rare brain disorder that affects movement and balance. Researchers want to see how tau levels change over time and relate to symptoms. Partici…

This study looks at how muscles grow and change in children with cerebral palsy (CP) by examining tiny samples from leg muscles. Researchers will compare these microscopic findings with muscle images and movement tests. The goal is to better understand why muscles in CP develop d…

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 at Mayo Clinic looks at two different types of Progressive Apraxia of Speech, a condition that makes it hard to speak clearly. Researchers will use brain scans, speech assessments, and thinking tests in 47 adults to better tell these types apart. The goal is to improve…

This study looks at how social and emotional thinking skills relate to everyday behavior in people with Alzheimer's disease and similar conditions. Researchers will give 120 participants tests of social cognition and ask their study partners to complete behavior checklists. They …

This study follows about 300 people with Friedreich's ataxia who are taking the prescribed drug omaveloxolone (SKYCLARYS®). Researchers will collect safety information from regular doctor visits for up to 5 years. The goal is to see how many participants have serious side effects…

This study aims to collect cerebrospinal fluid and blood samples from 2,500 people at various stages of Huntington's disease, as well as healthy volunteers. The goal is to find biological markers that can help researchers develop new treatments. Participants must be between 11 an…

This study aims to find biological markers in spinal fluid and blood that could signal the start of prion disease before symptoms appear. Researchers will follow 150 people who carry a genetic mutation for prion disease, along with family members and healthy volunteers. Participa…

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 …

This observational study is following 32 boys aged 6 months to 17 years with Pelizaeus-Merzbacher disease (PMD), a rare genetic disorder affecting the brain's white matter. Researchers are measuring biomarkers in spinal fluid and blood, brain scans, and motor and cognitive skills…

This study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…

This study is creating a large database of blood tests, digital assessments (like smartphone tasks), and brain scans from 1,200 older adults. Participants may have normal memory, mild memory problems, or mild-to-moderate Alzheimer's. The goal is to see if simple, non-invasive tes…

This study looks at how well people with frontotemporal dementia or Alzheimer's disease can recognize emotions in others and how aware they are of their own performance. Researchers will ask 34 participants (ages 50-80) to complete computer tasks and confidence ratings. The goal …

This study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…

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 enrolls 130 Hispanic adults aged 55+ without dementia to see if a 12-week phone-based coaching program helps them become more active. Participants are randomly assigned to either the coaching program or a general brain health education group. The goal is to see if the …

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 follows 300 people with a rare genetic movement disorder called SCA27B, along with some family members and healthy volunteers, for up to 2 years. Researchers will use exams, digital devices, and blood tests to measure how the disease changes over time. The goal is to f…

This study follows nearly 3,000 people, including healthy adults and those with memory or movement problems, to learn how brain diseases like Alzheimer's and Parkinson's develop. Researchers use advanced brain scans and tests to track changes over time. The goal is to improve ear…

This study uses a new ultra-high-resolution PET scanner to take detailed pictures of the brain and spinal cord in 300 healthy volunteers and people with conditions like Alzheimer's, Parkinson's, ALS, and psychotic disorders. The goal is to understand how small brain regions chang…

This study uses high-resolution ultrasound to look at nerves in people with Friedreich ataxia, a rare inherited disease that damages the nervous system and heart. Researchers want to see if nerve size and blood flow are different in these patients. The goal is to find new ways to…

This study aims to find biological markers (biosignatures) in people with ALS and FTD to make diagnosis more precise. Researchers will analyze samples like spinal fluid, skin, and tears from 230 participants using advanced techniques. The goal is to create a 'disease fingerprint'…

The PROFA study is an international observational study that follows 200 people with Friedreich Ataxia (FA) across Germany, Austria, and France. Participants use a mobile app to report their quality of life, symptoms, and healthcare costs daily for six months. The goal is to unde…

This study looks at when to start a parent coaching program called JASPER Babble for infants who have an older sibling with autism, putting them at higher risk. About 140 babies will join at 6-8 months old and be randomly assigned to start coaching at 9, 12, or 15 months. Researc…

This study aims to find early markers of Parkinson's disease, multiple system atrophy, and Lewy body dementia by analyzing samples from the nose, blood, and urine. Researchers will compare results from 180 people with these conditions and healthy volunteers. The goal is to improv…

This study is creating a detailed registry of 500 people with hereditary spastic paraplegia (HSP), a rare disorder that causes progressive leg stiffness and weakness. Researchers will collect medical history, genetic data, and patient feedback over time to better understand how t…

This study is building a registry of 50 people with NCL, a rare and severe brain disorder. Researchers will collect detailed clinical data, biomarkers, and patient-reported outcomes over time. The goal is to better understand the disease's natural history and develop tools that c…

This study tests a communication program called COACH-Cog for older adults with both dementia and cancer. It includes a training video for doctors and a coaching session for patients and their care partners. The goal is to see if this helps everyone work together better when maki…

This study is following 100,000 people in China over many years to learn more about dementia and memory loss. Researchers will track who develops these conditions, look for risk factors like genes and lifestyle, and find better ways to diagnose and prevent dementia. The goal is t…

This study is following 40,000 people from families with a strong history of Alzheimer's disease in China. Researchers are collecting genetic, brain imaging, and thinking and memory test data to learn how the disease develops over time. The goal is to find early signs of the dise…

This study follows healthy people who have a family history and genetic risk for ALS. Researchers want to find early warning signs and understand what triggers the disease. Participants do not receive any treatment, but their health is tracked over time. The goal is to learn how …

This study aims to uncover the genetic causes of hereditary spastic paraplegia (HSP), a group of rare neurological diseases that cause progressive muscle stiffness and weakness. Researchers at Boston Children's Hospital will analyze DNA from 200 people with HSP to find genetic va…

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 creates a worldwide database for people with DRPLA, a rare genetic brain disorder. Participants or their caregivers fill out questionnaires about symptoms, daily life, and disease impact. The goal is to gather information to help researchers better understand DRPLA and…

This study collects health information and biological samples from up to 700 people under 30 with early-onset hereditary spastic paraplegia (HSP). Researchers aim to better understand how the disease progresses over time and create a registry for future studies. Participants prov…

This observational study is looking at men with spinal and bulbar muscular atrophy (SBMA), a rare inherited disease that causes gradual muscle weakness. Researchers will track changes in muscle strength, imaging scans, and blood or spinal fluid markers over two years. The goal is…

This study examines the role of the plantaris, a small calf muscle, in children having surgery for tight ankles (equinus). Researchers will randomly change the order of tendon cuts during surgery to measure how much each contributes to ankle movement. The goal is to understand if…

This study looks at how Huntington disease affects social skills, like understanding others' feelings and intentions. Researchers will test a new tool called DMASC-MC in 40 adults with early Huntington disease and compare results to healthy volunteers. The goal is to find better …

This study is gathering information from 700 people with Parkinson's disease or similar conditions who experience freezing of gait—a sudden inability to move their feet while walking. Researchers will track symptoms, walking patterns, and falls over three years using questionnair…

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 gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…

This study follows children and adults with Tay-Sachs, Sandhoff, and GM1 gangliosidosis to understand how these diseases progress. Researchers will measure changes in motor skills, communication, and behavior each year. The goal is to create a clear picture of the diseases so fut…

This study looks at two thinking and memory tests—the Coding Test and the SAGE test—to see if they can help doctors better understand and track Huntington's disease. Researchers will compare these tests with standard ones used in clinics. The goal is to find easier or better ways…

This study follows 500 people with primary progressive aphasia, a condition that slowly damages the brain's language areas. Researchers will use brain scans and language tests to map how the disease progresses over time. The goal is to better understand the disease, not to test a…

This study follows 300 people with CLN3 Batten disease, a rare genetic disorder that causes vision loss, seizures, and decline in thinking and movement. Researchers collect samples like blood and spinal fluid to find biological markers that could be used in future treatment trial…

This study follows 850 people aged 40-64 with early-onset cognitive impairment to understand how Alzheimer's disease progresses. Participants undergo cognitive tests, brain scans, and genetic analysis, but no experimental treatment is given. The goal is to gather data that could …

This study is following 1,200 people from two memory clinics in Paris to see how sleep patterns, daily routines, and other personal factors relate to different types and stages of dementia. Participants will wear an activity tracker, answer questionnaires, and have cognitive test…

This study looks at a protein called BDNF, which helps keep brain cells healthy, in people with Huntington's disease. Researchers will measure BDNF and related markers in spinal fluid and blood, and compare them to healthy controls. The goal is to find biological signs that could…

This study uses a special PET scan to detect tau protein buildup in the brains of healthy older adults and those with mild cognitive impairment. Researchers will compare scan results with memory tests and brain activity patterns to understand how tau affects thinking. The goal is…

This study looks at how cholesterol and its byproducts relate to different types of dementia, including Alzheimer's and frontotemporal dementia. Researchers will measure these substances in brain tissue, spinal fluid, and blood from 80 adults aged 40-85. The goal is to find patte…

This study uses special brain scans to measure damage to nerve connections in people with Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP). Researchers will scan 36 adults aged 45-80 to see how the disease changes over time. The goal is to better understand …

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study looks at whether people with a rare inherited movement disorder called spinocerebellar ataxia have trouble recognizing emotions or understanding social situations. Researchers will compare 160 patients to healthy volunteers using tests like recognizing facial expressio…

This study uses non-invasive eye scans (OCT and OCTA) to look for changes in the retina that might be linked to brain diseases like Alzheimer's, Parkinson's, and multiple sclerosis. Researchers aim to find early markers that could help diagnose or track these conditions. The stud…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

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 looks at whether a test called the Hinting Task can pick up on social thinking difficulties in people with Huntington's disease. Social thinking helps us understand hints and other people's perspectives, and problems with it can affect daily life. Researchers will comp…

This study is testing whether artificial intelligence (AI) can analyze brain scans to help diagnose Parkinson's disease and related conditions like multiple system atrophy. Researchers will also see if the scans can predict how fast the disease will progress. The study involves 9…

This study is testing whether wearable devices like smartwatches can accurately track movement problems in people with Huntington's disease. About 100 participants, including those with Huntington's and healthy volunteers, will wear sensors and complete surveys and interviews at …

This study collects information and samples from 1,000 people with or at risk for brain diseases like Alzheimer's, ALS, and frontotemporal degeneration. Researchers will track changes in thinking, language, and brain scans over time. The goal is to build a resource for future stu…

This study follows 1,573 adults aged 50 to 90 across Canada, including people with different types of dementia and those with healthy memory. Researchers will use memory tests, brain scans, and blood samples to track how thinking and memory change over time. The goal is to better…

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 follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…

This study collects DNA from up to 1,000 adults with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), multiple system atrophy (MSA), or related conditions, plus their family members. Researchers will sequence participants' whole genomes to find genetic variants …

This study follows 200 people with Alexander Disease, a rare brain disorder, to learn how the disease changes over time. Researchers measure movement, speech, swallowing, and quality of life, and collect blood and spinal fluid samples. The goal is to gather information that will …

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 follows up to 600 people with leukodystrophy, a rare genetic disorder affecting the brain's white matter. Researchers aim to track how the disease progresses, improve diagnosis through genetic testing and brain scans, and evaluate outcomes like hospitalizations and res…

This study enrolls family members of people with inherited ALS who do not yet have symptoms. Participants receive genetic counseling and testing, and are followed yearly to track when and how symptoms might appear. The goal is to gather information that could one day lead to trea…

This study is testing whether a new, low-cost type of brain scan can find early signs of Alzheimer's and Parkinson's disease. Researchers will compare brain scans from 120 people, including those at risk for Alzheimer's, those with Parkinson's, and healthy volunteers. The goal is…

This study is testing whether new brain imaging techniques can better diagnose diseases like Parkinson's, multiple system atrophy, and frontotemporal dementia. Researchers will use MRI scans and neurological exams in about 94 adults aged 40-85. The goal is to improve how doctors …

This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to bette…

This study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…

This study tests whether spending less time in bed for four weeks can deepen sleep and boost memory in adults aged 65-85 who have poor sleep and are at risk for Alzheimer's. Researchers will measure brain activity, memory, and blood markers. The goal is to see if a simple behavio…

This study collects blood and spinal fluid samples from 100 people with ALS or similar neurodegenerative disorders. The samples are stored for future research to find biomarkers that could help understand or diagnose these diseases. Participants include patients and their spouses…

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 follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

This study is collecting nerve samples and biofluids from 400 people with ALS or peripheral neuropathies to find biological markers for early diagnosis and disease tracking. By analyzing individual cells, researchers hope to identify molecular changes that happen before symptoms …

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 whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…

This study is testing a new non-invasive device that uses laser speckle to measure blood flow and structure inside the eye. Researchers will compare these images with standard vision tests in 500 people with various retinal conditions. The goal is to see if this technology can be…

This study aims to find new biological markers for neurodegenerative diseases like Alzheimer's, Parkinson's, and ALS. Researchers will analyze genetic, protein, and metabolic data from 1,200 patients to improve diagnosis, predict disease course, and monitor treatment response. Th…

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 study is looking for 500 people with early dementia or mild cognitive impairment to help develop a way to predict how their disease will progress. Researchers will use blood tests and other models to better understand each person's outlook. The goal is to give patients and d…

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…

This study looks at people who carry genetic changes linked to Leber Hereditary Optic Neuropathy (LHON) but still have normal vision. Researchers want to see if certain chemicals in the blood and tears can signal early nerve damage in the eye, before vision loss occurs. The goal …

This study uses advanced brain scans, including a special PET tracer called AV-1451, to track changes in the brains of 50 people with progressive apraxia of speech (a disorder that affects the ability to coordinate speech movements). Researchers at Mayo Clinic will compare these …

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 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 collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study uses advanced brain scans (PET, SPECT, and MRI) to find markers of Parkinson's disease in people with certain genetic mutations. Researchers will look at changes in brain chemicals and structure. The goal is to better understand the disease and help develop new treatme…

This study collects blood or brain tissue from families with two or more members diagnosed with Alzheimer's or dementia. The goal is to build a large DNA bank that researchers can use to find genes linked to the disease. No individual results are returned, but the data may lead t…

This study aims to collect medical information and biological samples from 300 people with TANGO2-related disorder, a rare genetic condition. By tracking health events like metabolic and cardiac crises over time, researchers hope to better understand the disease course. The goal …

This study is testing whether special eye scans can detect changes linked to memory disorders like Alzheimer's and Parkinson's. Researchers will compare eye images from 450 people with and without memory complaints. The goal is to see if these non-invasive scans can help diagnose…

This study collects blood samples from 100 people with rare brain diseases like adrenoleukodystrophy and metachromatic leukodystrophy. Researchers will study immune cells called macrophages to see if they affect how the disease progresses. No treatment is given; the goal is to le…

This study looks at how Friedreich's ataxia affects the heart and nerves using advanced imaging, exercise tests, and biopsies. Researchers will track 203 people with the condition to find better ways to measure disease progression. The goal is to improve future treatment studies,…

This study follows 500 children and adults with Batten disease to learn how the condition naturally changes over time. Researchers will measure movement, thinking, behavior, and daily function using a special rating scale. The goal is to better understand the disease and improve …

This study aims to collect health information from 600 adults with Huntington disease or those who carry the gene but have no symptoms yet. Participants will answer online questions from home over 24 months. The goal is to learn how the disease progresses and what factors might a…

This study is looking at 50 adults with a rare genetic nerve disorder called RFC1-ataxia or CANVAS, which causes problems with balance, coordination, and sensation. Researchers will take blood samples and skin biopsies over 12 months to measure markers of cell stress and damage. …

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…