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

University Hospital, Strasbourg, France2 sites in 1 country25 target enrollmentSeptember 2015

ConditionsFamilial Lipomatosis Very Rare Dermatologic Diseases

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Familial Lipomatosis
Sponsor: University Hospital, Strasbourg, France
Enrollment: 25
Locations: 2
Primary Endpoint: Number of patients with a deleterious mutation
Last Updated: 9 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

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.

Registry

clinicaltrials.gov

Start Date

September 2015

End Date

February 2018

Last Updated

9 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

University Hospital, Strasbourg, France

Responsible Party

Sponsor

Eligibility Criteria

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