Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study

NCT05884086 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2023-06-01

No results posted yet for this study

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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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05884086 on ClinicalTrials.gov