Hereditary 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 Phase 3 trial tested a treatment called EryDex for people with ataxia telangiectasia (A-T), a rare genetic disease that affects movement and coordination. EryDex is a steroid (dexamethasone) packaged inside the patient's own red blood cells and given as an IV infusion every …

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…

This study tested a drug called troriluzole in 141 adults with spinocerebellar ataxia, a rare disease that affects balance and coordination. Participants took either the drug or a placebo daily for 8 weeks. The main goal was to see if troriluzole could improve symptoms like walki…

This study tested whether ultrasound of the nerves can help diagnose CANVAS, a rare genetic disorder that causes balance problems, nerve damage, and dizziness. Researchers measured nerve size in 35 people with confirmed CANVAS and compared them to healthy individuals. The goal wa…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

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 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 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 looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …

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 looked at tiny molecules in the blood called miRNAs to see if they could help doctors tell apart two similar conditions in boys: undescended testicles (which need surgery) and retractile testicles (which usually get better on their own). Researchers took blood samples …

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…

This completed study looked at 40 people with spinocerebellar ataxia types 2 and 7, a rare brain disease that affects movement. Researchers used MRI scans and lumbar punctures over one year to track changes in the brain and body. The goal was to find reliable markers that could b…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

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…