Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
NCT ID: NCT05884086
Last Updated: 2023-06-01
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ACTIVE_NOT_RECRUITING
20 participants
OBSERVATIONAL
2023-05-01
2026-06-30
Brief Summary
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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
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Interventions
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no intervention is necessary. Clinical observation and clinical examination only.
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
No
Sponsors
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Central Hospital, Nancy, France
OTHER
Responsible Party
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RENAUD Mathilde
MD,PhD
Locations
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Centre hospitalier régional universitaire
Nancy, , France
Countries
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References
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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.
Other Identifiers
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2023PI013-372
Identifier Type: -
Identifier Source: org_study_id
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