Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing (DERMA-SEQ)

October 7, 2016 updated by: University Hospital, Strasbourg, France

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 Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

25

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Strasbourg, France, 67091
        • Recruiting
        • Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg
        • Contact:
        • Principal Investigator:
          • Salima EL CHEHADEH, MD
        • Sub-Investigator:
          • Hélène DOLLFUS, MD
      • Strasbourg, France, 67091
        • Recruiting
        • Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg
        • Contact:
        • Sub-Investigator:
          • Dan LIPSKER, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

7 months and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Familial lipomatosis

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of patients with a deleterious mutation
Time Frame: 6 months
Validation of the exome sequencing results will be done by sanger sequencing
6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Investigators

  • Principal Investigator: Salima EL CHEHADEH, MD, Hopitaux Universitaires de Strasbourg

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2015

Primary Completion (Anticipated)

February 1, 2018

Study Completion (Anticipated)

February 1, 2018

Study Registration Dates

First Submitted

July 15, 2015

First Submitted That Met QC Criteria

July 27, 2015

First Posted (Estimate)

July 28, 2015

Study Record Updates

Last Update Posted (Estimate)

October 10, 2016

Last Update Submitted That Met QC Criteria

October 7, 2016

Last Verified

October 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 6024 (Other Identifier: DUMC Eirb:Pro00013552)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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