Genetic testing for Cutis Tricolor
Genomic Study of Cutis Tricolor
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 10 (estimated) |
| Ages | 4 Years to 60 Years |
| Sex | All |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier) |
| Trial ID | NCT06073171 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Montpellier
- University, Montpellier — Montpellier, France (Recruiting)
Study contacts
- Study coordinator: Didier BESSIS, Prof.
- Email: d-bessis@chu-montpellier.fr
- Phone: 04 67 33 69 06
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.