NCT02862834

Brief 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

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
39

participants targeted

Target at P25-P50 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2013

Completed
2.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2015

Completed
11 months until next milestone

First Submitted

Initial submission to the registry

August 5, 2016

Completed
6 days until next milestone

First Posted

Study publicly available on registry

August 11, 2016

Completed
Last Updated

March 12, 2026

Status Verified

March 1, 2026

Enrollment Period

2.3 years

First QC Date

August 5, 2016

Last Update Submit

March 10, 2026

Conditions

Poikiloderma

Outcome Measures

Primary Outcomes (1)

  • Identification of novel genes involved in syndromic poikiloderma

    day 1

Study Arms (1)

patients with poikiloderma

Genetic: High-throughput exome sequencing

Interventions

High-throughput exome sequencingGENETIC
patients with poikiloderma

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

patients with poikiloderma

You may qualify if:

  • 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.

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21079, France

Location

Related Publications (1)

  • 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.

    PMID: 25315659RESULT

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 5, 2016

First Posted

August 11, 2016

Study Start

May 1, 2013

Primary Completion

September 1, 2015

Last Updated

March 12, 2026

Record last verified: 2026-03

Locations

FR(1)