Clinical Trial: Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing

Brief Summary:

The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.

The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.


Detailed Summary:
Sponsor: University Hospital, Strasbourg, France

Current Primary Outcome: Number of patients with a deleterious mutation [ Time Frame: 6 months ]

Validation of the exome sequencing results will be done by sanger sequencing


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University Hospital, Strasbourg, France

Dates:
Date Received: July 15, 2015
Date Started: September 2015
Date Completion: February 2018
Last Updated: October 7, 2016
Last Verified: October 2016