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

• Conditions: Familial Lipomatosis; Very Rare Dermatologic Diseases

• Registration Number: NCT02509650
• Lead Sponsor: University Hospital, Strasbourg, France

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 Description

Not available

Study Timeline

• Study First Submitted: 2015-07-15
• Study First Submitted QC: 2015-07-27
• Study First Posted: 2015-07-28
• Study Start: 2015-09
• Status Verified: 2016-10
• Last Update Submitted: 2016-10-07
• Last Update Posted: 2016-10-10
• Primary Completion: 2018-02
• Study Completion: 2018-02

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 25

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of patients with a deleterious mutation	6 months	Validation of the exome sequencing results will be done by sanger sequencing

Trial Locations

Locations (2)

Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, France

Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, France