Status:
COMPLETED
Validation of a Clinical Algorithm for the Diagnosis of Recessive Ataxias
Lead Sponsor:
University Hospital, Montpellier
Collaborating Sponsors:
Neurology Department, CHU de Strasbourg-France
Genetic Department , CHU Montpellier-France
Conditions:
Ataxia
Eligibility:
All Genders
18+ years
Brief Summary
The field of clinical diagnosis of recessive cerebellar ataxias (ARCA) is particularly complex and Next Generation Sequencing (NGS) techniques have revolutionized this neuro-genetic field. The current...
Detailed Description
Design: Retrospective study based on clinico-genetic data. Total research duration: 22 months Plan of the study : More than 150 patients referred for ARCA suspicion have been analyzed by NGS (Montpell...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- \- having a predominant phenotype of pure or complex cerebellar ataxia of probable genetic origin (after exclusion of acquired, inflammatory, tumoral, infectious or toxic forms) - having started before the age of 50; - evoking a modality of recessive transmission (sporadic cases, brothers or sister affected, consanguinity of the parents) - in which dominant genetic forms due to CAG expansion (SCA1, SCA2, SCA3, SCA6, SCA7) and pre-mutation of the FMR1 gene (if onset after age 45)
- Exclusion criteria:
- \- objecting to the computer processing of the data contained in the medical file.
Exclusion
Key Trial Info
Start Date :
November 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 30 2022
Estimated Enrollment :
150 Patients enrolled
Trial Details
Trial ID
NCT04099914
Start Date
November 1 2019
End Date
March 30 2022
Last Update
April 12 2022
Active Locations (1)
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1
Uh Montpellier
Montpellier, France, 34295