NCT05884086

Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study

Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study on Late Onset Ataxia Related to a GAA Expansion in the FGF14 Gene

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 20 (estimated)
• Sponsor: Central Hospital, Nancy, France · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Ataxia, Gait

Interventions

Type	Name	Description
OTHER	—	no intervention is necessary. Clinical observation and clinical examination only.

Timeline

• Start date: 2023-05-01
• Primary completion: 2026-06-01
• Completion: 2026-06-01
• First posted: 2023-06-01
• Last updated: 2023-06-01

Locations

1 site across 1 country: France