Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
Overview
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.
Study Type
- Study Type: Observational
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: February 2018
Clinical Trial Outcome Measures
Primary Measures
- Number of patients with a deleterious mutation
- Time Frame: 6 months
- Validation of the exome sequencing results will be done by sanger sequencing
Participating in This Clinical Trial
Inclusion Criteria
- patients affected by familial lipomatosis – patients with rare dermatologic disease without molecular diagnosis – written informed consent is obtained from the patient and his/her family Exclusion Criteria:
- the patient does not want to participate to the protocol – the patient is already included in another study using next generation sequencing technologies
Gender Eligibility: All
Minimum Age: 2 Years
Maximum Age: N/A
Are Healthy Volunteers Accepted: Accepts Healthy Volunteers
Investigator Details
- Lead Sponsor
- University Hospital, Strasbourg, France
- Provider of Information About this Clinical Study
- Sponsor
- Overall Official(s)
- Salima EL CHEHADEH, MD, Principal Investigator, Hôpitaux Universitaires de Strasbourg
- Overall Contact(s)
- Salima EL CHEHADEH, MD, 33.3.88.12.81.20, salima.elchehadeh@chru-strasbourg.fr
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