Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study

NCT05884086 — Unknown, 20 participants, Central Hospital, Nancy, France

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

Registry	NCT05884086, acronym GAA-FGF14
Status	Unknown
Study type	Observational
Enrollment	20 (Estimated)
Sponsor	Central Hospital, Nancy, France (Other)
Conditions	Ataxia, Gait
Interventions	(Other)
Dates	start 2023-05-01, primary completion 2026-06-01 (estimated), completion 2026-06-01 (estimated), first posted 2023-06-01, last updated 2023-06-01
Locations	1 site in France

-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

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+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.

+Arms and interventions

(Other): no intervention is necessary. Clinical observation and clinical examination only.

+Outcome measures

Primary outcomes

description of clinical symptoms [through study completion, an average of 3 years]: description of clinical symptoms such as gait impairment, diplopia, vertigo, dizziness etc.
description of genotype [through study completion, an average of 3 years]: genotypic characterization of the GAA expansion

+Eligibility

Sex: All

Inclusion Criteria:

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

Exclusion Criteria:

* patients not wishing to be followed

+Locations (1)

Facility	City	Country	Status
Centre hospitalier régional universitaire	Nancy	France

+Publications

Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Lariviere R, Genis D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tetreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dube MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schule R, Schols L, La Piana R, Synofzik M, Zuchner S, Brais B. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. PMID 36516086