NCT05874388Active, not recruiting
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
Source: ClinicalTrials.gov · Last updated 4 Nov 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 70 (estimated)
- First submitted
- 7 Feb 2023
- Start date
- 19 Jun 2023
- Primary completion date
- Dec 2026
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- Diseases
- Friedreich ataxia
- NCT number
- NCT05874388
What you commit to
- Study type: Observational
- Planned participants: 70
- From 19 Jun 2023 to the primary completion date, Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- 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
Who the study is looking for
- 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
Age in the registry: 13 years to - · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hopital Necker Enfants Malades Coordinator of this site? Confirm its status | Paris | France | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.