Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
- Conditions
- Ataxia, Gait
- Registration Number
- NCT05884086
- Lead Sponsor
- Central Hospital, Nancy, France
- Brief 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
- Detailed Description
The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14. We wish to describe the precise clinical phenotype by detailing each patient's clinical examination, medical history, treatment history, frequency and symptomatology of episodes, MRI radiological data, otho-rihno-laryngeal examination data etc . We would also like to describe the precise genotype for each patient, specifying the number of GAA expansions and its characteristics.
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 20
- Patients with a diagnosis of cerebellar ataxia of type GAA-FGF14
- patients not wishing to be followed
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method description of genotype through study completion, an average of 3 years genotypic characterization of the GAA expansion
description of clinical symptoms through study completion, an average of 3 years description of clinical symptoms such as gait impairment, diplopia, vertigo, dizziness etc.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Centre hospitalier régional universitaire
🇫🇷Nancy, France