MedTrace Logo

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

NCT05874388 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 70

Last updated 2025-05-07

No results posted yet for this study

Summary

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.

Conditions

  • Friedreich Ataxia

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    lead OTHER_GOV

Principal Investigators

  • Benoit Funalot · APHP

Eligibility

Min Age
13 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-06-19
Primary Completion
2026-06-30
Completion
2026-06-30

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05874388 on ClinicalTrials.gov