Actively Recruiting
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2025-05-07
70
Participants Needed
1
Research Sites
154 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients aged 13 years or older
- Friedreich's Ataxia confirmed by genetic study (for patient group)
- Compliant and willing to undergo all tests
- Enrolled in or beneficiary of a social security scheme
- Control subjects aged 13 years or older
- Control subjects with no alterations in the FXN gene
- Control subjects with no motor or cognitive impairment
- Control subjects compliant and willing to undergo all tests
- Control subjects enrolled in or beneficiary of a social security scheme
You will not qualify if you...
- Optic atrophy or decreased visual acuity
- Opposition to participation by patient or parents if minor
- Non-compliance as judged by the Investigator
- Person subject to a legal protection measure
- Control group with any alteration in the frataxin gene
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Hôpital Necker-Enfants Malades
Paris, France
Actively Recruiting
Research Team
B
BENOIT FUNALOT, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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