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Familial Lipomatosis clinical trials

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NCT ID: NCT02509650 Recruiting - Clinical trials for Very Rare Dermatologic Diseases

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

DERMA-SEQ
Start date: September 2015
Phase: N/A
Study type: Observational

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.