Pigmentary; DermatosisCutis TricolorNCT06073171
Genomic Study of Cutis Tricolor
A study testing Blood sample, Cutaneous biopsy and High troughput sequencing of human's exome in people with Pigmentary; Dermatosis, run by University Hospital, Montpellier at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 4 to 60 years
- Conditions the study is for
- Pigmentary; Dermatosis
- What is being tested?
- Blood sample, Cutaneous biopsy and High troughput sequencing of human's exome
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 5 Jun 2024to Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
University, Montpellier
Montpellier
Didier BESSIS
About this study
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.
Read the 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
- Being tested
- Blood sample, Cutaneous biopsy, High troughput sequencing of human's exome
- Medical subject headings
- Skin Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
7.5 mL will be sampled on EDTA tube for each patient
Cutaneous biopsyBiological
4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients
High troughput sequencing of human's exomeGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| 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) Receives: Biological: Blood sample; Biological: Cutaneous biopsy; Genetic: High troughput sequencing of human's exome |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients in whom a pathogenic or probably pathogenic variant has been identified by exome sequencing
Measured: 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
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Oct 2023
- Study start5 Jun 2024
- Primary completionJun 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pigmentary; DermatosisStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- IntegraGen SA
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06073171
- Sponsor's protocol ID
- RECHMPL22_0229
- Other IDs
- 2023-A00313-42
- Acronym
- Cutis Tricolor
- Status last verified
- Sep 2025
- First submitted
- 19 May 2023
- Last updated
- 3 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Study of Cutis Tricolor
- ClinicalTrials.gov ID
- NCT06073171
- Acronym / sponsor ID
- Cutis Tricolor / RECHMPL22_0229
- Conditions
- Pigmentary; Dermatosis
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- IntegraGen SA
- Study start
- 5 Jun 2024 (actual)
- Primary completion
- Jun 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 10 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cutis Tricolor patient included in trio or duo | Other | Biological: Blood sample, Biological: Cutaneous biopsy, Genetic: High troughput sequencing of human's exomeCutis Tricolor patient included in trio (one affected parent, one unaffected parent) or duo (one of the two affected parents) |
Who may qualify
- Ages
- 4 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sample7.5 mL will be sampled on EDTA tube for each patient | Biological | Cutis Tricolor patient included in trio or duo |
| Cutaneous biopsy4 mm of damaged skin will be sampled after a premedication with lidocaine gel for 4 patients | Biological | Cutis Tricolor patient included in trio or duo |
| High troughput sequencing of human's exomeSequencing 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. | Genetic | Cutis Tricolor patient included in trio or duo |
Primary outcome
Number of patients in whom a pathogenic or probably pathogenic variant has been identified by exome sequencing
Time frame: 12 months
1 secondary outcome
Number of patients in whom a pathogenic or probably pathogenic variant in the same gene as another patient in the series has been identified
Time frame: 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Oct 2025.
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Melasma, Rosacea
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample, Cutaneous biopsy and High troughput sequencing of human's exome in people with Pigmentary; Dermatosis, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Didier BESSIS, Prof. (04 67 33 69 06, d-bessis@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients in whom a pathogenic or probably pathogenic variant has been identified by exome sequencing (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Oct 2025.