Genetic testing for Cutis Tricolor
Official title: Genomic Study of Cutis Tricolor
Run by University Hospital, Montpellier · NCT06073171 · Data updated 2026-11-12
This project uses blood, skin biopsy, and whole-exome sequencing to look for genes that cause Cutis Tricolor in people aged 4–60 and their parents.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 4 Years to 60 Years |
| Sex | All |
| Enrollment | 10 (estimated) |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier) |
| Status | Recruiting |
| Started | June 5, 2024 |
| Main results expected | June 2026 |
| Study ends | December 2026 |
| Registry record updated | October 3, 2025 |
| Trial ID | NCT06073171 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People aged 4 to 60 with Cutis Tricolor who can enroll with one or both biological parents (duo or trio) are the intended participants.
✕Probably not a fit
Individuals without Cutis Tricolor, pregnant or breastfeeding women, people under legal protection, or those without social security coverage are excluded and unlikely to benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Cutis Tricolor is a rare pigmentary disorder that can appear alone or as part of syndromes such as Ruggieri-Happle. The protocol enrolls affected patients aged 4–60 together with one or both biological parents (duo or trio) and collects clinical data, blood samples, and skin biopsies. Investigators will perform high-throughput whole-exome sequencing and molecular analyses to confirm a previously reported candidate gene and to identify additional pathogenic variants and cellular pathways, including inflammatory mechanisms. Genetic findings will be correlated with dermatologic, neurologic, and eye features to improve diagnosis and understanding of disease processes.
Why it matters
Potential benefit: If successful, this work could provide a clear genetic diagnosis for patients and families, enabling better genetic counseling and improved understanding of associated skin, eye, and neurologic problems.
How similar studies have gone: A single prior whole-exome analysis in one Ruggieri-Happle case identified a frameshift candidate variant, but confirmation across multiple patients remains limited and this larger genomic approach is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
University, Montpellier
Montpellier, France Recruiting
Study contacts
- Study coordinator: Didier BESSIS, Prof.
- Email: d-bessis@chu-montpellier.fr
- Phone: 04 67 33 69 06
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.