Method of Genetic Analysis in Genodermatoses
NCT03873285 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100
Last updated 2019-04-16
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 cutaneous expression in the child.
Conditions
- Genodermatosis
- Rare Genetic Disease With Cutaneous Expression
Interventions
- GENETIC
-
Genetic diagnostic by mendeliome or genome
For cases not explained by a mendeliomes: genome and transcriptome on fibroblast culture
Sponsors & Collaborators
-
Center of Human Genetics - ULB in Brussels
collaborator UNKNOWN -
Interuniversity Institute of Bioinformatics in Brussels
collaborator UNKNOWN -
Queen Fabiola Children's University Hospital
lead OTHER
Principal Investigators
-
Deborah Salik, MD · Hôpital Universitaire Des Enfants Rein Fabiola
Study Design
- Allocation
- NA
- Purpose
- DIAGNOSTIC
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Max Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2018-11-27
- Primary Completion
- 2021-11-30
- Completion
- 2021-11-30
Countries
- Belgium
Study Locations
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