An interventional study of Genetic diagnostic by mendeliome or genome in Genodermatosis and Rare Genetic Disease With Cutaneous Expression, sponsored by Queen Fabiola Children's University Hospital. Status unknown at 1 site in Belgium. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2019-04-16.
Sponsored by Queen Fabiola Children's University Hospital · Not applicable, Interventional, and Diagnostic
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.
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 examination for relevant cases Patient records will be consulted. Relevant medical information, biological examinations and other complementary examinations will be studied.
A blood sample (10 ml in EDTA tube) will be collected from the patient and his/her parents to store DNA for mediome and genome.
A written parental and child consent (if age-appropriate) will be obtained and a study information sheet will be signed. They will also sign the usual genetic consent request for mendeliome, genome and transcriptome on culture of fibroblasts.
A 4 mm punch skin biopsy (healthy or damaged depending on phenotype and indication) will be performed according to the standard technique.
The fibroblast culture will be performed routinely by the Genetics Center Transcriptome will be done according to the processes set up at the Genetics Center Mendeliome analysis
403 studies on the registry are indexed under Genetic Diseases, Inborn; 145 are open to participants now.
This study's planned enrollment of 100 is above the median of 54 across 202 interventional studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Queen Fabiola Children's University Hospital is the lead sponsor of 28 studies on the registry; 6 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
Children 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
Genetic: Genetic diagnostic by mendeliome or genome
For cases not explained by a mendeliomes: genome and transcriptome on fibroblast culture
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.
Time frame: At time of clinical diagnosis of genodermatosis
Genetic diagnostic by genome
Proportion of patients for whom a genetic diagnosis has been established using the genome method. American College of Medical Genetics and Genomics. Diagnostic variants are classified as "pathogenic" or "probably pathogenic" variants.
Time frame: At time of clinical diagnosis of genodermatosis
Genetic diagnostic by fibroblast transcriptome
Proportion of patients for whom a genetic diagnosis has been established using the fibroblast transcriptome method. American College of Medical Genetics and Genomics. Diagnostic variants are classified as "pathogenic" or "probably pathogenic" variants.
Time frame: At time of clinical diagnosis of genodermatosis
Relevance of dermatological symptoms
Correlation between dermatological signs and symptoms and a genetic diagnosis established by the mendelioma, genome and transcriptome method
Time frame: At time of clinical diagnosis of genodermatosis
This study is status unknown, as verified in Mar 2019. You cannot join it, but the record below documents what was studied.
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Queen Fabiola Children's University Hospital