Autosomal recessive cerebellar ataxia

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

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

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

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

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

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 However, the study was withdrawn before any participants wer…

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

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

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

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

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

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

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

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

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

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

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

This study gathers MRI, CT, and ultrasound images from 300 adults—some healthy, some with kidney or brain disease—to build a collection for future not-for-profit research. No new treatments are being tested; the goal is to make medical images available to scientists for advancing…