Status:
COMPLETED
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Joubert Syndrome
Cerebello-oculo-renal Syndromes
Eligibility:
All Genders
Brief Summary
Primary objective: * assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: * assessment of the prevalence of CEP290 m...
Detailed Description
Design: multicentric Aims of this study: to describe clinical and genetic basis of Joubert syndrome and cerebello-oculo-renal syndromes.Joubert syndrome (JS) is characterized by hypotonia, abnormal oc...
Eligibility Criteria
Inclusion
- Child or adult patients without age maximum
- Affected with JS/CORS défined by neurologic disease with at least one of the following symptoms :
- neonatal hypotonia or developmental delay (before age 3) or mental retardation (QD\<70) (after age 3).
- Ataxia
- Oculomotor apraxia
- and on MRI :
- vermis hypoplasia/agenesia defined by insufficient development of cerebellar vermis.
- And molar tooth defined by thickened, elongated and mal-orientated superior cerebellar peduncles on axial sections.
Exclusion
- Chromosomal anomalies identified by caryotype
- Absence of signature of informed consent.
- Absence of affiliation to social security
Key Trial Info
Start Date :
March 1 2007
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 1 2010
Estimated Enrollment :
80 Patients enrolled
Trial Details
Trial ID
NCT00873678
Start Date
March 1 2007
End Date
January 1 2010
Last Update
June 3 2010
Active Locations (1)
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1
Hopital Trousseau
Paris, France, 75012