Clinical trial NCT01235624: Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
Official title: Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Autosomal Dominant Retinitis Pigmentosa
Keywords: Autosomal dominant retinitis pigmentosa
Rare disease
Genetics
Lead sponsor: University Hospital, Montpellier
Sponsor class: OTHER
Collaborators: name: Ministry of Health, France
First posted: 2010-11-05
Enrollment: 1161
Sex: ALL
Minimum age (years): 5
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

Brief 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."

Detailed 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.

Eligibility criteria: 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:

-

Primary outcomes:
measure: identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
timeFrame: for 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Montpellier
country: France
facility: CHRU Montpellier
Study officials:
affiliation: Institut National de la Santé Et de la Recherche Médicale, France
name: christian HAMEL, Pr Ph.D
role: PRINCIPAL_INVESTIGATOR
affiliation: § Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCE
name: José-Alain SAHEL, Pr
role: STUDY_CHAIR
affiliation: Hopital Necker enfants-malades,Paris,FRANCE
name: Jean Louis DUFIER, Pr
role: STUDY_CHAIR
affiliation: CHU de STRASBOURG, FRANCE
name: Hélène DOLLFUS, Pr
role: STUDY_CHAIR
affiliation: CHU de RENNES Unité INSERM 598,Paris,FRANCE
name: sylvie ODENT, Pr
role: STUDY_CHAIR
affiliation: CHRU de LILLE,FRANCE
name: Sabine DEFOORT- DHELEMMES, Ph.D
role: STUDY_CHAIR
affiliation: CHU de NANTES,FRANCE
name: Michel WEBER, Pr
role: STUDY_CHAIR
affiliation: CLINIQUE SOURDILLE, NANTES,France
name: Xavier ZANLONGH, Ph.D
role: STUDY_CHAIR
affiliation: Centre génétique Médicale - Children Hospital of DIJON
name: Laurence LO OLIVIER-FAIVRE, PH
role: PRINCIPAL_INVESTIGATOR
References:
citation: Audo I, Manes G, Mohand-Said 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 Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.