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

Launched by INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE, FRANCE · May 23, 2023

Keywords

ClinConnect Summary

This clinical trial is looking at how Friedreich's Ataxia (FA) affects thinking and cognitive skills in patients. FA is a genetic disease that usually starts in childhood or adolescence and leads to problems with balance, coordination, and speech, along with potential heart issues and diabetes. Unfortunately, there is currently no cure for FA, and people with this condition may find it increasingly difficult to walk and communicate over time. This study aims to better understand the cognitive challenges that come with FA, as recent findings suggest that patients may also experience difficulties with processing information and other cognitive functions.

To participate in this trial, individuals must be at least 13 years old and have a confirmed diagnosis of FA through genetic testing. They need to be willing to complete all necessary tests and be part of a social security program. There is also a control group for comparison, which includes individuals of the same age who do not have FA or any cognitive impairments. Participants will undergo various assessments to help researchers learn more about how FA impacts both motor skills and cognitive abilities. This study is not yet recruiting participants, but it aims to provide valuable insights into the experiences of those living with Friedreich's Ataxia.

Gender

ALL

Eligibility 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