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Screening for Genes in Patients With Poikiloderma

NCT02862834 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 39

Last updated 2026-03-12

No results posted yet for this study

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 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

Interventions

GENETIC

High-throughput exome sequencing

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-05-31
Primary Completion
2015-09-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02862834 on ClinicalTrials.gov