Clinical Trial: Prevalence of POU4F3 and SLC17A8 Mutations

Study Status: Terminated
Recruit Status: Terminated
Study Type: Observational

Official Title: Prevalence of POU4F3 (DFNA15) and SLC17A8 (DFNA25) Genes Mutations in Dominant Autosomal Deafness and Phenotypic Characterization of Carrier Patients.

Brief Summary: The study will allow to identify the prevalence of the SLC17A8 gene mutations in patients suffering from deafness. This phenotype also corresponds to DFNA15 deafness caused by POU4F3 : mutations of this gene will be screened as well.

Detailed Summary: DFNA are characterized as progressive bilateral deafness. To date, 21 genes and 57 loci are involved in these dominant deafness, with an unknown prevalence.A 22nd gene responsible of the disease has been found. This SLC17A8 gene encodes for the VGLUT3 protein which is specifically expressed in sensorial cells of the audition. VGlut3-/- mice present a deep deafness due to a deficiency of neurotransmitter release, although sensorial cells and neurons are intact. This kind of deafness is an ideal candidate for a genetic therapy because of the cells integrity.Mutations of SLC17A8 gene have been found in 2 american families that suffer from progressive deafness.The study aims to look for european families from the Mediterranean basin, which carry SLC17A8 gene mutations, and may benefit in a medium-term from genetic therapy. The study will allow to identify the prevalence of the SLC17A8 gene mutations in patients suffering from deafness. This phenotype also corresponds to DFNA15 deafness caused by POU4F3 : mutations of this gene will be screened as well.
Sponsor: University Hospital, Montpellier

Current Primary Outcome: SLC17A8 et POU4F3 mutations genes analysis [ Time Frame: up to 1 year ]

The mutations will be screened by direct sequencing


Original Primary Outcome: Same as current

Current Secondary Outcome: Phenotypic characterization of the carrier patients [ Time Frame: up to 1 year ]

The phenotypic characterization will be assessed by usual tests for genetic deafness (audiometry, electro-physiological explorations)


Original Secondary Outcome: Same as current

Information By: University Hospital, Montpellier

Dates:
Date Received: July 24, 2012
Date Started: March 2011
Date Completion:
Last Updated: July 20, 2015
Last Verified: April 2015