Understanding cognitive profiles in patients with Friedreich's Ataxia
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
This study is trying to understand how Friedreich's Ataxia affects thinking and movement in patients aged 13 and older to help find better treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 70 (estimated) |
| Ages | 13 Years and up |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris) |
| Trial ID | NCT05874388 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the cognitive and motor profiles of patients suffering from Friedreich's Ataxia (FA), a neurodegenerative disease. It involves assembling a battery of tests tailored to assess the specific cognitive, motor, and speech functions affected by FA. The study will include patients aged 13 years or older with confirmed FA and a control group without cognitive impairment. The goal is to identify subtle changes in functioning that may inform future treatment approaches.
Who should consider this trial
Good fit: Ideal candidates include patients aged 13 years or older with genetically confirmed Friedreich's Ataxia.
Not a fit: Patients with optic atrophy or significant visual impairment may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of cognitive and motor symptoms in Friedreich's Ataxia patients.
How similar studies have performed: While studies on Friedreich's Ataxia are ongoing, this specific approach to cognitive profiling is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Paris
- Hôpital Necker-Enfants Malades — Paris, France (Recruiting)
Study contacts
- Principal investigator: Benoit Funalot — Aphp
- Study coordinator: Benoit Funalot, Md
- Email: benoit.funalot@aphp.fr
- Phone: 01.49.81.28.60
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.