Informations générales (source: ClinicalTrials.gov)
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing (DERMA-SEQ)
Observational
University Hospital, Strasbourg, France (Voir sur ClinicalTrials)
septembre 2015
février 2018
29 juin 2024
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.
Etablissements
| Les établissements hors Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg - 67091 - Strasbourg - France | Dan LIPSKER, MD | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg - 67091 - Strasbourg - France | Salima EL CHEHADEH, MD | Contact (sur clinicalTrials) | |||
Critères
Tous
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
- 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
- the patient does not want to participate to the protocol
- the patient is already included in another study using next generation sequencing
technologies