Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
NCT05884086 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 20
Last updated 2023-06-01
Summary
Cerebellar ataxias of late onset are of undetermined etiology in many cases. A new cause of late-onset cerebellar ataxia was discovered in January 2023 corresponding to an expansion of GAA triplets in intron 1 of the FGF14 gene.
However, this cerebellar ataxia is still poorly known and requires further investigations to know its clinical phenotype and its evolution in order to propose a diagnosis and a genetic counseling adapted to patients and families. The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14
Conditions
- Ataxia, Gait
Interventions
- OTHER
-
no intervention is necessary. Clinical observation and clinical examination only.
Sponsors & Collaborators
-
Central Hospital, Nancy, France
lead OTHER
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-05-01
- Primary Completion
- 2026-06-30
- Completion
- 2026-06-30
Countries
- France
Study Locations
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