Ignite Creation Date:
2024-05-06 @ 7:03 PM
Last Modification Date:
2024-10-26 @ 3:00 PM
Study NCT ID:
NCT05884086
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2023-06-01
First Post:
2023-05-16
Brief Title:
Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
Sponsor:
Central Hospital Nancy France
Organization:
Central Hospital Nancy France
Study Overview
Official Title:
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
Status Verified Date:
2023-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GAA-FGF14
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
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 patients 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None