Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
GAA-FGF14
1 other identifier
observational
20
1 country
1
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
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started May 2023
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
May 1, 2023
CompletedFirst Submitted
Initial submission to the registry
May 16, 2023
CompletedFirst Posted
Study publicly available on registry
June 1, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 1, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 1, 2026
June 1, 2023
May 1, 2023
3.1 years
May 16, 2023
May 30, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
description of clinical symptoms
description of clinical symptoms such as gait impairment, diplopia, vertigo, dizziness etc.
through study completion, an average of 3 years
description of genotype
genotypic characterization of the GAA expansion
through study completion, an average of 3 years
Eligibility Criteria
Patients with a diagnosis of cerebellar ataxia of type GAA-FGF14 followed at the CHRU of Nancy
You may qualify if:
- Patients with a diagnosis of cerebellar ataxia of type GAA-FGF14
You may not qualify if:
- patients not wishing to be followed
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Centre hospitalier régional universitaire
Nancy, 54000, France
Related Publications (1)
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: 36516086BACKGROUND
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- MD,PhD
Study Record Dates
First Submitted
May 16, 2023
First Posted
June 1, 2023
Study Start
May 1, 2023
Primary Completion (Estimated)
June 1, 2026
Study Completion (Estimated)
June 1, 2026
Last Updated
June 1, 2023
Record last verified: 2023-05