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| ID | Type | Description | Link |
|---|---|---|---|
| 2023-A00313-42 | Other Identifier | ANSM |
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| Name | Class |
|---|---|
| IntegraGen SA | INDUSTRY |
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It's a study on Syndromic or Isolated Cutis Tricolor and had as main goal to identify the associated gene to the disease thanks to genetic analysis on minors patients and their parents reach by cutis Tricolor or not.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cutis Tricolor patient included in trio or duo | Other | Cutis Tricolor patient included in trio (one affected parent, one unaffected parent) or duo (one of the two affected parents) |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sample | Biological | 7.5 mL will be sampled on EDTA tube for each patient |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of patients in whom a pathogenic or probably pathogenic variant has been identified by exome sequencing | 12 months |
| Measure | Description | 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 | 12 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Didier BESSIS, Prof. | Contact | 04 67 33 69 06 | d-bessis@chu-montpellier.fr | |
| Marjolaine WILLEMS, Dr | Contact | 04 67 33 65 64 | m-willems@chu-montpellier.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University, Montpellier | Recruiting | Montpellier | France |
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| ID | Term |
|---|---|
| D012871 | Skin Diseases |
| ID | Term |
|---|---|
| D017437 | Skin and Connective Tissue Diseases |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| Cutaneous biopsy | Biological | 4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients |
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| High troughput sequencing of human's exome | Genetic | 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. |
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| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |