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

NCT02509650 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2016-10-10

No results posted yet for this study

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.

Conditions

  • Familial Lipomatosis
  • Very Rare Dermatologic Diseases

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Salima EL CHEHADEH, MD · Hôpitaux Universitaires de Strasbourg

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-09-30
Primary Completion
2018-02-28
Completion
2018-02-28

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02509650 on ClinicalTrials.gov