Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

Autosomal Dominant Retinitis Pigmentosa Clinical Trial

Official title:

Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01235624
• Other study ID #: UF 8300
• Secondary ID: 2008-A01238-47
• Status: Completed
• Phase: N/A
• First received: November 4, 2010
• Last updated: November 5, 2013
• Start date: March 2009
• Est. completion date: April 2013

Study information

• Verified date: November 2013
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial Summary

Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."

Description:

Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1161
• Est. completion date: April 2013
• Est. primary completion date: April 2013
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 5 Years to 80 Years

Eligibility

Inclusion Criteria:

• retinitis pigmentosa diagnosed

• Autosomal dominant transmission diagnosed

• Aged from 5 to 80 years

• Informed consent

• Affiliated or benefit from an insurance regimen

Exclusion Criteria:

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Autosomal Dominant Retinitis Pigmentosa
• Retinitis
• Retinitis Pigmentosa

Intervention

Genetic:
• genetic analysis

Locations

Country	Name	City	State
France	CHRU Montpellier	Montpellier

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Montpellier	Ministry of Health, France

Country where clinical trial is conducted

France, 

References & Publications (1)

Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest O — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)		for 5 years	No