Method of Genetic Analysis in Genodermatoses
GENODERM
Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
1 other identifier
interventional
100
1 country
1
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 cutaneous expression in the child.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for not_applicable
Started Nov 2018
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
November 27, 2018
CompletedFirst Submitted
Initial submission to the registry
March 11, 2019
CompletedFirst Posted
Study publicly available on registry
March 13, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
November 1, 2021
CompletedStudy Completion
Last participant's last visit for all outcomes
November 1, 2021
CompletedApril 16, 2019
March 1, 2019
2.9 years
March 11, 2019
April 11, 2019
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Genetic diagnostic by mendeliome
Proportion of patients for whom a genetic diagnosis has been established using the mendeliome method. American College of Medical Genetics and Genomics. Diagnostic variants are classified as "pathogenic" or "probably pathogenic" variants.
At time of clinical diagnosis of genodermatosis
Secondary Outcomes (3)
Genetic diagnostic by genome
At time of clinical diagnosis of genodermatosis
Genetic diagnostic by fibroblast transcriptome
At time of clinical diagnosis of genodermatosis
Relevance of dermatological symptoms
At time of clinical diagnosis of genodermatosis
Study Arms (1)
Genodermatosis patients
EXPERIMENTALChildren between 0 to 18 years old with the presence of dermatological symptoms suggesting genodermatosis or presence of systemic symptoms in an undiagnosed patient associated with dermatological manifestations suggestive of a more rare genetic disorder with cutaneous expression
Interventions
For cases not explained by a mendeliomes: genome and transcriptome on fibroblast culture
Eligibility Criteria
You may qualify if:
- 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
You may not qualify if:
- Mosaicism
- Neurofibromatosis, all type
- Tuberous sclerosis
- Ichthyosis vulgaris
- Suspicion of somatic impairment (giant nevus)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hôpital Universitaire Des Enfants Rein Fabiola
Brussels, 1020, Belgium
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Deborah Salik, MD
Hôpital Universitaire Des Enfants Rein Fabiola
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 11, 2019
First Posted
March 13, 2019
Study Start
November 27, 2018
Primary Completion
November 1, 2021
Study Completion
November 1, 2021
Last Updated
April 16, 2019
Record last verified: 2019-03