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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 13
Healthy Volunteers: t
View:

• 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

Locations
Other Locations
France
Hôpital Necker-Enfants Malades
RECRUITING
Paris
Contact Information
Primary
BENOIT FUNALOT, MD
benoit.funalot@aphp.fr
01.49.81.28.60
Time Frame
Start Date: 2023-06-19
Estimated Completion Date: 2026-06
Participants
Target number of participants: 70
Treatments
Control Group
Comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary.
Symptomatic participants
The study will involve a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. The validation of the results obtained will be determined by the correlation indices between the cognitive test scores used and the demographic variables and disease parameters considered, in particular the number of GAA triplet repeats in the allele of the FXN gene that contains the fewest repeats.
Sponsors
Leads: Institut National de la Santé Et de la Recherche Médicale, France

This content was sourced from clinicaltrials.gov