Friedreich ataxia

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 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 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 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 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 is testing a device called ViBandz, which uses small vibrating motors strapped to the body to provide vibration therapy. Researchers want to see if it is easy and comfortable for children with neurological conditions to use at home. The study will involve 30 children a…

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 looks at whether adjusting deep brain stimulation (DBS) can improve movement, speech, and swallowing in people already implanted with DBS for conditions like tremor, stroke, or traumatic brain injury. Researchers will test hand dexterity, grip strength, facial movement…

This study aims to understand the link between genes and symptoms in people with inherited movement disorders. Researchers will study up to 2,500 participants, including patients and their family members, to identify new disease-causing genes and improve diagnosis. The goal is to…

This natural history study is collecting information from up to 4,000 people with movement disorders (like Parkinson's disease or tremor) and their family members. Participants undergo exams, blood tests, and imaging, but receive no new treatments. The goal is to gather data that…

This study aims to find the genetic causes of movement disorders and dementias by analyzing DNA from up to 12,000 participants, including patients and their family members. Researchers will collect blood or saliva samples and look for gene mutations linked to these conditions. Th…

This study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…

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

This study 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 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 is creating a shared database of children who have received deep brain stimulation (DBS) for movement disorders like dystonia, epilepsy, or Tourette syndrome. By pooling data from multiple hospitals, researchers hope to answer key questions about who benefits most and …

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 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 translate the Hypertonia Assessment Tool (HAT) into Turkish and check if it works correctly. The HAT helps doctors identify different types of increased muscle tone in children with motor disorders. Researchers will test the tool on 70 children under 18 who hav…

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 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,…