Cerebellar degeneration

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 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 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-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 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 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 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 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 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 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 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 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 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 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 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 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 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 tests whether a virtual reality training program can help people with cerebellar ataxia improve their reaching movements. Participants will use an Oculus Rift headset to practice reaching to virtual targets over several weeks. The goal is to see if this type of trainin…

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 if pairing a gentle, non-invasive brain stimulation (tDCS) with personalized physical therapy can help people with cerebellar damage (from stroke, tumor, or degeneration) improve movement and daily function. About 30 adults aged 18-75 will participate. The goal i…

This study tests whether balance rehabilitation that changes how patients see (closing eyes, using a mask, or projecting moving dots) can improve walking stability better than standard rehab with eyes open. It includes 40 adults with chronic nerve damage who have trouble with bal…

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 a new way to help people with cerebellar diseases (either present from birth or developed later) improve their ability to predict others' actions and emotions. Sixty participants will undergo eight sessions of virtual reality training while receiving either real …

This study tests whether a special belt that vibrates can help people with balance disorders walk better and feel more steady. Researchers will enroll 90 adults aged 18-80 who have balance issues from conditions like inner ear problems or ataxia. Participants will use the belt an…

This study tests whether combining two types of non-invasive brain stimulation can improve balance and coordination in people with ataxia, a condition that affects movement. Researchers will enroll 30 adults with a confirmed ataxia diagnosis. Participants will receive a combinati…

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 full-body electrical stimulation suit, used at home, can reduce muscle stiffness (spasticity) and coordination problems (ataxia) in people with multiple sclerosis. Seventy participants will either use the suit for six weeks or receive usual care al…

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 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 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 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 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…

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 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…

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 follows 150 adults with RFC1-related ataxia (a balance and coordination disorder) over two years. Researchers will measure symptoms, perform imaging, and test blood samples to understand how the disease progresses. The goal is to find markers that can help diagnose the…

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 information from 500 children worldwide who have both epilepsy and movement disorders caused by specific gene changes. Researchers will analyze medical records to find patterns linking symptoms to genetics. The goal is to create a shared database that helps do…

This study collects blood samples from 1000 people with rare neurological diseases that may be autoimmune. Researchers will use the samples to find new biomarkers and autoantibodies, which could help diagnose and treat these conditions in the future. Participants give extra blood…

This study records brain activity from people with movement disorders like Parkinson's disease, essential tremor, and dystonia. Researchers use scalp electrodes or existing deep brain stimulators to measure electrical signals. The goal is to find patterns linked to symptoms, whic…

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 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…

Cerebellar ataxias are rare brain disorders that affect coordination. Standard genetic tests leave about 40% of patients without a clear cause. This study will use a newer, long-read DNA sequencing technique on blood samples from 210 patients and their relatives to see if it can …

This study is building a worldwide registry for people with Wolfram syndrome, a rare genetic disorder causing diabetes, vision loss, and hearing problems. Researchers will track how the disease progresses over time and analyze participants' genetic information. The goal is to bet…

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 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 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 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 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 is testing a new, minimally invasive brain stimulation technique for people with cerebellar cognitive affective syndrome (CCAS), a condition that causes problems with thinking, mood, and movement. The researchers are enrolling 200 participants with Cushing's syndrome-r…

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. …