GenodermatosisGENODERMNCT03873285
Method of Genetic Analysis in Genodermatoses
A study testing Genetic diagnostic by mendeliome or genome in people with Genodermatosis and Rare Genetic Disease With Cutaneous Expression, run by Queen Fabiola Children's University Hospital at 1 site in Belgium.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Genodermatosis, Rare Genetic Disease With Cutaneous Expression
- What is being tested?
- Genetic diagnostic by mendeliome or genome
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteBelgium
- Study dates
- 27 Nov 2018to Nov 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- Mosaicism
- Neurofibromatosis, all type
- Tuberous sclerosis
- Ichthyosis vulgaris
- Suspicion of somatic impairment (giant nevus)
Trial locations and contacts
1 site in 1 country.
Guillaume Smits, MD PhD contact
Belgium1 site, 1 recruiting
- Recruiting
Hôpital Universitaire Des Enfants Rein Fabiola
Brussels, 1020
Deborah Salik, MD, 0032 2 477 31 20, Deborah.salik@huderf.be
Deborah Salik, MD
About this study
Official title: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
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.
Read the 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 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
- Allow the analysis of 4000 rare disease genes
- Will be performed according to routine analyzes of the genetics lab
- Uses the Highlander tools (web)
- Use of de novo filters, autosomal recessive, heterozygous compound, X linked, strong variant (LOF and canonical splice sites)
- Use of rarer filters: exomic or gene deletion, splicing (+/- 12 base pairs around exons)
- In unexplained severe cases, a genome supplemented with the 10Xgenomics method and a transcriptome of fibroblasts will be realized. This double strategy afford to get a genome of high interpretative quality. Genome analysis by the 10Xgenomics method (https://www.10xgenomics.com )
- This method allows us to deconvolate haplotypes and allows the analysis of 16,000 other complementary genes and to obtain precisely defined structural variants.
- The transcriptome will better assess the genomic effects on gene expression.
- The genome and transcriptome will also assess the presence of deep intron mutations and their effect on splicing, and will be a sustainable resource for other long-term projects (analysis of non-coding regions, microRNAs, etc.)
- Being tested
- Genetic diagnostic by mendeliome or genome
- Keywords
- Genodermatosis, genetic, children
- Medical subject headings
- Skin Diseases, Genetic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic diagnostic by mendeliome or genomeGenetic
For cases not explained by a mendeliomes: genome and transcriptome on fibroblast culture
| Study group | Role | What they receive |
|---|---|---|
| Genodermatosis patients | Experimental | 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 Receives: Genetic: Genetic diagnostic by mendeliome or genome |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: At time of clinical diagnosis of genodermatosis
Secondary outcomes (3)
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.
Measured: 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.
Measured: 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
Measured: At time of clinical diagnosis of genodermatosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2019
- Study start27 Nov 2018
- Primary completionNov 2021 (estimated)
- Study completionNov 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GenodermatosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Queen Fabiola Children's University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Center of Human Genetics - ULB in Brussels, Interuniversity Institute of Bioinformatics in Brussels
- Responsible party
- Sponsor
- Investigators
- Deborah Salik, MD, Principal investigator, Hôpital Universitaire Des Enfants Rein Fabiola
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03873285
- Sponsor's protocol ID
- P2018/Dermato/Genodermatose
- Acronym
- GENODERM
- Status last verified
- Mar 2019
- First submitted
- 11 Mar 2019
- Last updated
- 16 Apr 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
- ClinicalTrials.gov ID
- NCT03873285
- Acronym / sponsor ID
- GENODERM / P2018/Dermato/Genodermatose
- Keywords
- Genodermatosis, genetic, children
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Queen Fabiola Children's University HospitalUniversity, hospital or other
- Collaborators
- Center of Human Genetics - ULB in Brussels, Interuniversity Institute of Bioinformatics in Brussels
- Study start
- 27 Nov 2018 (actual)
- Primary completion
- Nov 2021 (estimated)
- Study completion
- Nov 2021 (estimated)
- First posted
- 13 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 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
- Allow the analysis of 4000 rare disease genes
- Will be performed according to routine analyzes of the genetics lab
- Uses the Highlander tools (web)
- Use of de novo filters, autosomal recessive, heterozygous compound, X linked, strong variant (LOF and canonical splice sites)
- Use of rarer filters: exomic or gene deletion, splicing (+/- 12 base pairs around exons)
- In unexplained severe cases, a genome supplemented with the 10Xgenomics method and a transcriptome of fibroblasts will be realized. This double strategy afford to get a genome of high interpretative quality. Genome analysis by the 10Xgenomics method (https://www.10xgenomics.com )
- This method allows us to deconvolate haplotypes and allows the analysis of 16,000 other complementary genes and to obtain precisely defined structural variants.
- The transcriptome will better assess the genomic effects on gene expression.
- The genome and transcriptome will also assess the presence of deep intron mutations and their effect on splicing, and will be a sustainable resource for other long-term projects (analysis of non-coding regions, microRNAs, etc.)
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genodermatosis patients | Experimental | Genetic: Genetic diagnostic by mendeliome or genomeChildren 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 |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (5 listed)
- Mosaicism
- Neurofibromatosis, all type
- Tuberous sclerosis
- Ichthyosis vulgaris
- Suspicion of somatic impairment (giant nevus)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic diagnostic by mendeliome or genomeFor cases not explained by a mendeliomes: genome and transcriptome on fibroblast culture | Genetic | Genodermatosis patients |
Primary outcome
Genetic diagnostic by mendeliome
Time frame: At time of clinical diagnosis of genodermatosis
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.
3 secondary outcomes
Genetic diagnostic by genome
Time frame: At time of clinical diagnosis of genodermatosis
Genetic diagnostic by fibroblast transcriptome
Time frame: At time of clinical diagnosis of genodermatosis
Relevance of dermatological symptoms
Time frame: At time of clinical diagnosis of genodermatosis
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2019.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Guillaume Smits, MD PhD contact
Deborah Salik, MD principal investigator
Hôpital Universitaire Des Enfants Rein Fabiola
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic diagnostic by mendeliome or genome in people with Genodermatosis and Rare Genetic Disease With Cutaneous Expression, run by Queen Fabiola Children's University Hospital at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 16 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Deborah Salik, MD (0032 2 477 31 20, Deborah.salik@huderf.be), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic diagnostic by mendeliome (time frame: At time of clinical diagnosis of genodermatosis). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Apr 2019.