Status:
UNKNOWN
Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia
Lead Sponsor:
University Hospital, Montpellier
Collaborating Sponsors:
Neurogenetic department, CHU Bordeaux
Genetic Department , CHU Montpellier-France
Conditions:
Friedreich Ataxia
Eligibility:
All Genders
Brief Summary
Friedreich's ataxia (FA) is the most frequent recessive genetic ataxia with an estimated prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a progressive course and the ...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- Subjects with diagnosis of genetically confirmed Friedreich's Ataxia (AF) and :
- two expansions of GAAN triplets (\> 100 repetitions or "premutation", corresponding to\> 32 but \<100 repetitions) located in intron 1 of the FXN gene present on the two alleles;
- symptomatic (SARA scale\> 4);
- having signed a consent for the performance of genetic analyzes which also includes the authorization for the conduct of further studies for research purposes and the authorization for the collection, entry and computer processing of medical data, in all confidentiality. A newsletter on the principle of non-opposition will be sent.
- Exclusion criteria:
- Patients with Friedreich's ataxia due to an expansion associated with a point mutation or a deletion in trans;
- Patients who, at the time of signing the genetic consent, objected to the use of their data for research purposes.
Exclusion
Key Trial Info
Start Date :
March 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 30 2021
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT04346238
Start Date
March 1 2020
End Date
September 30 2021
Last Update
April 16 2020
Active Locations (1)
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1
Uh Montpellier
Montpellier, France, 34295