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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Friedreich's Ataxia (FA) is a neurodegenerative disease that begins in childhood or adolescence, affecting both boys and girls. It is caused by the expansion of GAA triplet repeats in the frataxin gene (FXN), leading to nerve cell loss in parts of the nervous system. FA impacts balance, coordination, speech, and sometimes heart function and diabetes, progressively worsening motor and cognitive abilities. This study aims to characterize the cognitive profile of FA patients based on their genetic variations, especially the number of GAA repeats in the FXN gene, to better understand how these variations affect motor, executive, and speech symptoms. The study is observational and involves two groups: symptomatic FA patients confirmed by genetic testing and healthy control participants without motor or cognitive impairments. Both groups will complete a battery of tests assessing motor, cognitive, and speech functions during a single 45-minute session using a computer dedicated to the study. The tests are designed to address the specific symptoms and abilities of FA patients and to evaluate subtle changes related to their genetic profile. Participants will undergo testing during a single health care consultation, with no further visits required. Researchers will collect data on motor, cognitive, executive, and speech functions and analyze how these relate to demographic and disease-related factors, including the FXN gene's GAA repeat number. The main outcome is to characterize cognitive function in relation to genetic differences, with secondary outcomes assessing motor and speech profiles. The study will continue until 2026 to gather comprehensive data over an average of three years.
CONDITIONS
Brief 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
- Patients with Friedreich's Ataxia confirmed by genetic testing
- Willing and able to complete all study tests
- Enrolled in or beneficiary of a social security scheme
- Control group subjects aged 13 years or older
- Control group subjects with no motor or cognitive impairments
- Control group subjects without alterations in the FXN gene
- Control group subjects willing to complete all study tests
- Control group subjects enrolled in or beneficiary of a social security scheme
You will not qualify if you...
- Presence of optic atrophy or decreased visual acuity
- Opposition to participation by patient or parents if minor
- Non-compliance as determined by the Investigator
- Person under legal protection measures
- Control group subjects with alterations in the frataxin gene
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants complete a battery of cognitive, motor, executive, and speech function tests during a single session to characterize their cognitive profile.
1 visit (in-person)
Duration - Up to 3 years
Participants are observed over time to assess the relationship between cognitive profiles and genetic characteristics related to Friedreich's Ataxia.
No further visits required
Trial Site Locations
Total: 1 location
1
Hôpital Necker-Enfants Malades
Paris, France
Actively Recruiting
Research Team
B
BENOIT FUNALOT, MD
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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