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.
Eligibility
Sex
ALL
Min age
13 Years
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria:
* Patient group :
Patients aged 13 years or older Patients with FA confirmed by genetic study Compliant patients willing to undergo all tests Enrolled in a social security scheme or beneficiary of such a scheme
Control group :
Subjects aged 13 years or older Genetic characterisation to exclude the presence of alterations in the FXN gene No motor or cognitive impairment Compliant subjects willing to undergo all tests Membership in a social security scheme or beneficiary of such a scheme
Exclusion Criteria:
* Patient group :
Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non compliant patient according to the Investigator's opinion Person subject to a legal protection measure
Control group :
Alteration in the frataxin gene Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non-compliant patient in the opinion of the Investigator Person subject to a legal protection measure
Primary outcome measure(s)
characterization of the cognitive profile of patients suffering from Friedreich's Ataxia as a function of the number of GAA triplet repeats in the allele of the FXN gene that contains the least number of repeats. — through study completion, an average of 3 years Correlation of cognitive test scores
Trial sites (1)
Facility
City
Region
Status
Hôpital Necker-Enfants Malades
Paris
France
More Institut National de la Santé Et de la Recherche Médicale, France trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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