- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06073171
Genomic Study of Cutis Tricolor (Cutis Tricolor)
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Cutis Tricolor (CT) is a rare cutaneous anomaly defined by pigmentary disorders associating large hyper- and hypopigmented macules of immediate proximity, selectively affecting the trunk. CT can be isolated, sporadic or integrated as a complex syndromic form such as Ruggieri-Happle syndrome (RHS) or various forms of pigmentovascular phacomatosis. A recent analysis of one case of RHS followed by CHU of Montpellier by whole exome sequencing allows the identification of a frameshift pathogen variant (heterozygous state) of a candidate gene.
The main objective is to confirm the association of the candidate gene with syndromic CT (SCT, Ruggierri-Happle syndrome) and non syndromic CT, from a genetic molecular blood and biopsy analysis of patients reach by CT and their parents presenting the disease or not. Furthermore, other objectives are to identify others associated candidates genes and to know better cutaneous pigmentary troubles factors, neurologics and eye abnormalities by identifying the differents cellulars pathways particularly the inflammatory pathway in the pathology of SCT.
First of all, it will have a pre-inclusion visit where Dr WILLEMS. M (Clinical Genetic Department - CHU Montpellier, France) and Pr BESSIS. D (Dermatology Department - CHU Montpellier, France) will explain the study's progress. Then, during the inclusion visit, families will sign inform consent for inclusion in the study. The same day, datas will be collected on demographic, clinical datas, including (i) a description of cutaneous, morphologic and extra-cutaneous anomalies and (ii) a cutaneous biopsy and (iii) a blood test will be done.
The genetics exams results will be return to patients during an usual follow-up visit, 12 months after their inclusion in the study.
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Didier BESSIS, Prof.
- Phone Number: 04 67 33 69 06
- Email: d-bessis@chu-montpellier.fr
Study Contact Backup
- Name: Marjolaine WILLEMS, Dr
- Phone Number: 04 67 33 65 64
- Email: m-willems@chu-montpellier.fr
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Patients with Cutis Tricolor in trio (an affected parent, an unaffected parent) or in duo (one of the two affected parents)
- Age : from 4 to 60 years
Exclusion Criteria:
- Refusal to sign the informed consent
- Patient who doesn't have a social security scheme or beneficiary of such a scheme
- Pregnant or breastfeeding women
- Patient whith a legal protection measure (guardianship, curatorship)
- Patient under legal protection
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Other: Cutis Tricolor patient included in trio or duo
Cutis Tricolor patient included in trio (one affected parent, one unaffected parent) or duo (one of the two affected parents)
|
7.5 mL will be sampled on EDTA tube for each patient
4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients
Sequencing on Illumina NovaSeq6000 platform, using the Twist Bioscience Human Core Exome kit + IntegraGen content, average 37Mb.
This sequencing will be realised by external provider, IntegraGen society.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Number of patients in whom a pathogenic or probably pathogenic variant has been identified by exome sequencing
Time Frame: 12 months
|
12 months
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Number of patients in whom a pathogenic or probably pathogenic variant in the same gene as another patient in the series has been identified
Time Frame: 12 months
|
12 months
|
Collaborators and Investigators
Sponsor
Collaborators
Study record dates
Study Major Dates
Study Start (Estimated)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- RECHMPL22_0029
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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