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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05884086

Acronym

GAA-FGF14

Enrollment

Registered

2023-06-01

Start date

2023-05-01

Completion date

2026-06-30

Last updated

2023-06-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Ataxia, Gait

Keywords

ataxia, spinocerebellar ataxia, genetic ataxia

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Patients with a diagnosis of cerebellar ataxia of type GAA-FGF14

Exclusion criteria

* patients not wishing to be followed

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

France

Outcome results