Brain function in Friedreich's ataxia: new clues from genetic testing
NCT ID NCT05874388
First seen Jul 21, 2026 · Last updated Jul 22, 2026 · Updated 1 time
Summary
This study looks at how Friedreich's ataxia, a genetic nerve disease, affects thinking skills like memory and problem-solving. Researchers will compare cognitive test results between people with the condition and healthy volunteers, and see if these results relate to the number of genetic repeats in the FXN gene. The goal is to better understand the cognitive challenges patients face.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could help predict cognitive decline in Friedreich's ataxia and guide personalized care.
- What could go wrong
- This is an observational study with no treatment, so it cannot directly improve outcomes. Results may not apply to all patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 70 people
The number the study aims to enrol. It can still change while the study runs.
- Started
-
Jun 2023
- Expected to finish
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Sep 2026
An estimate. End dates often move.
- Lead sponsor
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A government agency
The lead sponsor is a government body.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
The study will involve two groups: * a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital * a 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.
- Ages
-
13 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
Hôpital Necker-Enfants Malades
Paris, France
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