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Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study

Sponsor
Central Hospital, Nancy, France (Other)
Overall Status
Active, not recruiting
CT.gov ID
NCT05884086
Collaborator
(none)
20
Enrollment
1
Location
37
Anticipated Duration (Months)
0.5
Patients Per Site Per Month

Study Details

Study Description

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

Condition or Disease Intervention/Treatment Phase

    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.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    20 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study on Late Onset Ataxia Related to a GAA Expansion in the FGF14 Gene
    Actual Study Start Date :
    May 1, 2023
    Anticipated Primary Completion Date :
    Jun 1, 2026
    Anticipated Study Completion Date :
    Jun 1, 2026

    Outcome Measures

    Primary Outcome Measures

    1. description of clinical symptoms [through study completion, an average of 3 years]

      description of clinical symptoms such as gait impairment, diplopia, vertigo, dizziness etc.

    2. description of genotype [through study completion, an average of 3 years]

      genotypic characterization of the GAA expansion

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • Patients with a diagnosis of cerebellar ataxia of type GAA-FGF14
    Exclusion Criteria:
    • patients not wishing to be followed

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Centre hospitalier régional universitaire Nancy France 54000

    Sponsors and Collaborators

    • Central Hospital, Nancy, France

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    Responsible Party:
    RENAUD Mathilde, MD,PhD, Central Hospital, Nancy, France
    ClinicalTrials.gov Identifier:
    NCT05884086
    Other Study ID Numbers:
    • 2023PI013-372
    First Posted:
    Jun 1, 2023
    Last Update Posted:
    Jun 1, 2023
    Last Verified:
    May 1, 2023
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by RENAUD Mathilde, MD,PhD, Central Hospital, Nancy, France
    ataxia
    spinocerebellar ataxia
    genetic ataxia
    Additional relevant MeSH terms:
    Ataxia
    Cerebellar Ataxia
    Gait Ataxia

    Study Results

    No Results Posted as of Jun 1, 2023