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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02509650

Acronym

DERMA-SEQ

Enrollment

Registered

2015-07-28

Start date

2015-09-30

Completion date

2018-02-28

Last updated

2016-10-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial Lipomatosis, Very Rare Dermatologic Diseases

Keywords

Exome sequencing, Skin disease, Familial lipomatosis

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Countries

France

Contacts

Primary ContactSalima EL CHEHADEH, MD

salima.elchehadeh@chru-strasbourg.fr33.3.88.12.81.20

Backup ContactDan LIPSKER, MD

dan.lipsker@chru-strasbourg.fr33.3.88.11.61.79

Outcome results