Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
JSCORS
Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes
1 other identifier
observational
80
1 country
1
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 mutations and NPHP1 homozygous deletions in JS/CORS
- caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS.
- evaluation of genotype-phenotype correlation in JS/CORS.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Mar 2007
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
March 1, 2007
CompletedFirst Submitted
Initial submission to the registry
March 31, 2009
CompletedFirst Posted
Study publicly available on registry
April 1, 2009
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2010
CompletedStudy Completion
Last participant's last visit for all outcomes
January 1, 2010
CompletedJune 3, 2010
March 1, 2010
2.8 years
March 31, 2009
June 2, 2010
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS)
At the inclusion visit
Secondary Outcomes (1)
Assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS ; Caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS ; Evaluation of genotype-phenotype correlation in JS/CORS.
At the inclusion visit
Study Arms (1)
1
Children or adult patients affected with JS/CORS
Interventions
Eligibility Criteria
Children or adult patients affected with JS/CORS
You may qualify if:
- 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.
You may not qualify if:
- Chromosomal anomalies identified by caryotype
- Absence of signature of informed consent.
- Absence of affiliation to social security
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hopital Trousseau
Paris, 75012, France
Biospecimen
Whole blood sample (10 ml)
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Lydie BURGLEN, MD
Assistance Publique - Hôpitaux de Paris
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
Study Record Dates
First Submitted
March 31, 2009
First Posted
April 1, 2009
Study Start
March 1, 2007
Primary Completion
January 1, 2010
Study Completion
January 1, 2010
Last Updated
June 3, 2010
Record last verified: 2010-03