Genomic Study of Cutis Tricolor

NCT ID: NCT06073171

Last Updated: 2025-10-03

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 10 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2024-06-05
• Study Completion Date: 2026-12-31

Brief Summary

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.

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.

Conditions

Pigmentary; Dermatosis

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

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)

Group Type: OTHER

Blood sample

Intervention Type: BIOLOGICAL

7.5 mL will be sampled on EDTA tube for each patient

Cutaneous biopsy

Intervention Type: BIOLOGICAL

4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients

High troughput sequencing of human's exome

Intervention Type: 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.

Interventions

Blood sample

7.5 mL will be sampled on EDTA tube for each patient

Intervention Type: BIOLOGICAL

Cutaneous biopsy

4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients

Intervention Type: BIOLOGICAL

High troughput sequencing of human's exome

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.

Intervention Type: GENETIC

Eligibility Criteria

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

• Minimum Eligible Age: 4 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

IntegraGen SA

INDUSTRY

Sponsor Role: collaborator

University Hospital, Montpellier

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

University, Montpellier

Montpellier, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Didier BESSIS, Prof.

Role: CONTACT

d-bessis@chu-montpellier.fr

04 67 33 69 06

Marjolaine WILLEMS, Dr

Role: CONTACT

m-willems@chu-montpellier.fr

04 67 33 65 64

Facility Contacts

Didier BESSIS

Role: primary

Other Identifiers

2023-A00313-42

Identifier Type: OTHER

Identifier Source: secondary_id

RECHMPL22_0229

Identifier Type: -

Identifier Source: org_study_id