PoikilodermapoikilodermaNCT02862834
Screening for Genes in Patients With Poikiloderma
An observational study of Poikiloderma, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to improve the diagnostic decision tree in these syndromes, opportunities for genetic… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Poikiloderma
- What is being tested?
- High-throughput exome sequencing
- How many people
- 39 participants
- Where
- 1 siteFrance
- Study dates
- May 2013to Sep 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: patients with poikiloderma
Who may be able to join
- patients with syndromic poikiloderma, defined by the association of poikiloderma with other extradermatological clinical signs,
- normal array-CGH, screening for chromosomal rearrangements,
- absence of mutations in the genes RECQL4, KIND1 or C16orf57,
- sporadic or familial involvement.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma
In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to improve the diagnostic decision tree in these syndromes, opportunities for genetic counselling for patients and their families and the follow-up of patients, notably with regard to the risk of tumours.
This study will make it possible to identify new genes implicated in syndromic poikiloderma and improve the diagnostic strategy proposed to patients with these syndromes, and to propose to patients a confirmed diagnosis, appropriate follow-up, notably with regard to the risk of tumours, genetic counselling to families and eventually an antenatal diagnosis to couples who would like to have one for future pregnancies.
The identification of new genetic causes of syndromic poikiloderma will also make it possible to complete the current classification of these syndromes
- Conditions
- Poikiloderma
- Being tested
- High-throughput exome sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
High-throughput exome sequencingGenetic
| Study group | Role | What they receive |
|---|---|---|
| patients with poikiloderma | Not described Receives: Genetic: High-throughput exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of novel genes involved in syndromic poikiloderma
Measured: day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2016 (estimated)
- Study startMay 2013
- Primary completionSep 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for PoikilodermaStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 39 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02862834
- Sponsor's protocol ID
- Courcet AOI 2012
- Acronym
- poikiloderma
- Status last verified
- Mar 2026
- First submitted
- 5 Aug 2016
- Last updated
- 12 Mar 2026
- Results posted
- No
Publications
Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Riviere JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15.
PubMed 25315659
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma
- ClinicalTrials.gov ID
- NCT02862834
- Acronym / sponsor ID
- poikiloderma / Courcet AOI 2012
- Conditions
- Poikiloderma
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 39 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- May 2013
- Primary completion
- Sep 2015 (actual)
- First posted
- 11 Aug 2016 (estimated)
- 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.
In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to improve the diagnostic decision tree in these syndromes, opportunities for genetic counselling for patients and their families and the follow-up of patients, notably with regard to the risk of tumours.
This study will make it possible to identify new genes implicated in syndromic poikiloderma and improve the diagnostic strategy proposed to patients with these syndromes, and to propose to patients a confirmed diagnosis, appropriate follow-up, notably with regard to the risk of tumours, genetic counselling to families and eventually an antenatal diagnosis to couples who would like to have one for future pregnancies.
The identification of new genetic causes of syndromic poikiloderma will also make it possible to complete the current classification of these syndromes
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with poikiloderma | – | Genetic: High-throughput exome sequencing |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with poikiloderma
Key inclusion criteria (4 listed)
- patients with syndromic poikiloderma, defined by the association of poikiloderma with other extradermatological clinical signs,
- normal array-CGH, screening for chromosomal rearrangements,
- absence of mutations in the genes RECQL4, KIND1 or C16orf57,
- sporadic or familial involvement.
Key exclusion criteria (1 listed)
- None
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 |
|---|---|---|
| High-throughput exome sequencing | Genetic | patients with poikiloderma |
Primary outcome
Identification of novel genes involved in syndromic poikiloderma
Time frame: day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2026.
- Results publication: PubMed 25315659Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Riviere JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15.
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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Poikiloderma, run by Centre Hospitalier Universitaire Dijon 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 4 inclusion and 1 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: finished, as of the sponsor's last update on 12 Mar 2026. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of novel genes involved in syndromic poikiloderma (time frame: day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02862834, which also lists 1 linked publication.
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 12 Mar 2026; AzTrials last refreshed its copy on 30 Oct 2026.