Clinical Trial: Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

Brief Summary: Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. If such a therapy is to be considered for humans, it is urgent to select, at a national level, patients suffering from dystrophy linked to a mutation of the rpe65 gene. The systematic correlation of phenotype/genotype is an anatomical-functional approach, but it also identifies patients who may be potentially included in a future gene therapy study. Indeed, identification of people with a mutation of rpe65 is still insufficient in France (compared to other European countries) because of a lack of systemic genotyping of retinal dystrophy.

Detailed Summary:
Sponsor: Nantes University Hospital

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Information By: Nantes University Hospital

Dates:
Date Received: January 12, 2007
Date Started: April 2007
Date Completion:
Last Updated: November 23, 2011
Last Verified: November 2011