Status:
COMPLETED
Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Congenital Cerebellar Ataxias
Early-onset Cerebellar Ataxias
Eligibility:
All Genders
Brief Summary
Congenital ataxias (CA) are rare, non progressive diseases, characterized by psychomotor retardation, hypotonia followed by ataxia. The presence of the "molar tooth" on MRI allowed to define Joubert s...
Detailed Description
All patients will be examined by a geneticist or a neuropediatric. All clinical data will be collected. Strategy of the molecular study : 1. for all multiplex and consanguineous families a linkage a...
Eligibility Criteria
Inclusion
- Patient, child or adult, affected with a congenital or early-onset ataxia defined by:
- Neurological symptoms observed before age of 2 years.
- Non progressive cerebellar ataxia observed at the time of examination. Karyotype done or in progress
Exclusion
- Metabolic disease
- Specific MRI malformations suggesting a peculiar entity : molar tooth (joubert syndrome), superior vermis dysplasia with cleft (Oligophrenin)
- Muscle weakness and elevated creatine phosphokinase (CPK)
- Clearly progressive ataxia.
- Absence of signature of the informed consent.
- Absence of affiliation to social security
Key Trial Info
Start Date :
January 1 2012
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 1 2014
Estimated Enrollment :
165 Patients enrolled
Trial Details
Trial ID
NCT01488461
Start Date
January 1 2012
End Date
October 1 2014
Last Update
June 15 2015
Active Locations (1)
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1
Hôpital Trousseau, Service de Génétique
Paris, France, 75012