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Friedreich Ataxia clinical trials

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NCT ID: NCT06054893 Not yet recruiting - Friedreich Ataxia Clinical Trials

A Study of Omaveloxolone in Children With Friedreich's Ataxia

Start date: November 1, 2023
Phase: Phase 1
Study type: Interventional

This is an open-label study evaluating the safety, tolerability, and PK following single-dose administration of omaveloxolone in pediatric patients with FA. The study will consist of 3 parts (Parts A, B, and C) based on age.

NCT ID: NCT05874388 Not yet recruiting - Friedreich Ataxia Clinical Trials

Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia

CPCAF
Start date: September 1, 2023
Phase: N/A
Study type: Interventional

Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.