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Joubert Syndrome clinical trials

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NCT ID: NCT00873678 Completed - Joubert Syndrome Clinical Trials

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

JSCORS
Start date: March 2007
Phase: N/A
Study type: Observational

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.