Status:
UNKNOWN
Method of Genetic Analysis in Genodermatoses
Lead Sponsor:
Queen Fabiola Children's University Hospital
Collaborating Sponsors:
Center of Human Genetics - ULB in Brussels
Interuniversity Institute of Bioinformatics in Brussels
Conditions:
Genodermatosis
Rare Genetic Disease With Cutaneous Expression
Eligibility:
All Genders
Up to 18 years
Phase:
NA
Brief Summary
The goal of the study is to develop a method of genetic diagnosis in two stages, by mendelioma then by genome and transcriptome on fibroblast culture, in genodermatoses and rare diseases with cutaneou...
Detailed Description
Interventional multicenter prospective study. Patients will be examined by a dermatologist to describe and identify the various skin lesions Collaboration with the geneticist team: clinical examinatio...
Eligibility Criteria
Inclusion
- Children between 0 to 18 years old
- Presence of dermatological symptoms suggesting genodermatosis
- Presence of systemic symptoms in an undiagnosed patient associated with dermatological manifestations suggestive of a more rare genetic disorder with cutaneous expression
Exclusion
- Mosaicism
- Neurofibromatosis, all type
- Tuberous sclerosis
- Ichthyosis vulgaris
- Suspicion of somatic impairment (giant nevus)
Key Trial Info
Start Date :
November 27 2018
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
November 1 2021
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT03873285
Start Date
November 27 2018
End Date
November 1 2021
Last Update
April 16 2019
Active Locations (1)
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1
Hôpital Universitaire Des Enfants Rein Fabiola
Brussels, Belgium, 1020