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Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome

NCT00873678 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2010-06-03

No results posted yet for this study

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.

Conditions

  • Joubert Syndrome
  • Cerebello-oculo-renal Syndromes

Interventions

BIOLOGICAL

Whole blood sample

Whole blood sample (10 ml)

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Lydie BURGLEN, MD · Assistance Publique - Hôpitaux de Paris

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2007-03-31
Primary Completion
2010-01-31
Completion
2010-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00873678 on ClinicalTrials.gov