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

Familial Lipomatosis Clinical Trial

— DERMA-SEQ  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02509650
• Other study ID #: 6024
• Status: Recruiting
• Phase: N/A
• First received: July 15, 2015
• Last updated: October 7, 2016
• Start date: September 2015
• Est. completion date: February 2018

Study information

• Verified date: October 2016
• Source: University Hospital, Strasbourg, France
• Contact: Salima EL CHEHADEH, MD
• Phone: 33.3.88.12.81.20
• Email: salima.elchehadeh[@]chru-strasbourg.fr
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: February 2018
• Est. primary completion date: February 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 2 Years and older

Eligibility

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

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Familial Lipomatosis
• Skin Diseases
• Very Rare Dermatologic Diseases

Locations

Country	Name	City	State
France	Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg	Strasbourg
France	Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of patients with a deleterious mutation	Validation of the exome sequencing results will be done by sanger sequencing	6 months	No