Genomic Study of Cutis Tricolor

NCT06073171 | Recruiting

• 2 other identifiers: RECHMPL22_02292023-A00313-42
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

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.

Conditions

Pigmentary; Dermatosis

Outcome Measures

Primary Outcomes (1)

• Number of patients in whom a pathogenic or probably pathogenic variant has been identified by exome sequencing

  12 months

Secondary Outcomes (1)

• 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

Study Arms (1)

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)

Biological: Blood sample; Biological: Cutaneous biopsy; Genetic: High troughput sequencing of human's exome

Interventions

Blood sample BIOLOGICAL

7.5 mL will be sampled on EDTA tube for each patient

Cutis Tricolor patient included in trio or duo

Cutaneous biopsy BIOLOGICAL

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

Cutis Tricolor patient included in trio or duo

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.

Cutis Tricolor patient included in trio or duo

Eligibility Criteria

• Age: 4 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Montpellier: lead
• IntegraGen SA: collaborator

Study Sites (1)

University, Montpellier

Montpellier, France

RECRUITING

MeSH Terms

Conditions

Skin Diseases

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

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

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 19, 2023
• First Posted: October 10, 2023
• Study Start: June 5, 2024
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 3, 2025

Record last verified: 2025-09

Locations

FR (1)