Autosomal recessive degenerative and progressive cerebellar ataxia

This study tested a malaria drug called artesunate in 20 people with Friedreich ataxia, a rare genetic disorder that affects movement and coordination. The goal was to find a safe dose that could help control iron levels in cells, which may slow the disease. Researchers started w…

This study tested an experimental drug called vatiquinone in 146 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. Participants took either the drug or a placebo for 72 weeks to see if it slowed worsening of symptoms, measured by a stan…

This study tested a drug called RTA 408 (omaveloxolone) in 172 people with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to see if the drug is safe and can improve exercise ability and daily function. Participants took the drug o…

Researchers tested an artificial intelligence program that analyzes retinal images to diagnose several nerve and brain conditions, such as optic neuropathy and brain tumors. The study used data from 693 patients with confirmed diagnoses. The goal is to create a fast triage tool f…

This study looked at whether taking an NAD+ precursor (a vitamin-like supplement) along with exercise training can improve aerobic capacity (how well the body uses oxygen during exercise) in people with Friedreich's ataxia. The trial included 75 participants aged 10 to 40. Resear…

This pilot study tested the drug elamipretide in 20 people with Friedreich ataxia to see if it could safely improve vision loss. Participants received either a low or high dose, and researchers measured changes in eyesight. The study is complete, but results are not yet available…

This study tested whether 12 weeks of respiratory strength training could improve breathing and swallowing in a person with Friedreich's ataxia. The participant did breathing exercises against resistance and had tests before and after the training. Because only one person took pa…

This completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study looked at 120 people with Friedreich's ataxia, a rare genetic disease that causes progressive movement problems. Researchers examined tiny interruptions in the DNA expansion that causes the disease to see if they influence when symptoms start and how severe they become…

This study tested whether home automation and remote monitoring can help elderly people (65+) with multiple chronic conditions live safely at home. Over 500 participants had their homes equipped with sensors that tracked health signs and sent alerts to doctors. The main goal was …

This pilot study explored whether people with Friedreich's ataxia (FA) have problems making certain hormones, like cortisol and testosterone. Researchers measured hormone levels in blood samples from 11 FA patients and 15 healthy volunteers. The goal was to better understand how …

This study aimed to translate and validate an Italian version of a tool that helps speech therapists assess swallowing difficulties (dysphagia) in people with neurodegenerative diseases like Parkinson's or ALS. Researchers tested the tool on 101 adults with such conditions to ens…

This completed study looked at how different types of brain damage—from strokes, tumors, infections, or degenerative diseases—affect thinking and memory. Researchers used brain scans (MRI) and cognitive tests in 346 patients and healthy volunteers to map which brain areas are res…

This study looked at 10 adults with Friedreich's ataxia to find a way to measure frataxin mRNA in blood and spinal fluid. The goal was to create a tool that can tell if treatments are working to increase frataxin levels in the brain. Researchers used tiny particles called exosome…

This study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…

This study followed 1200 people with Friedreich's ataxia over time to learn how the disease progresses. Researchers collected health exams and lab results to create a natural history of the condition. The goal was to develop better tools for future clinical trials and improve pat…