Screening for Genes in Patients With Poikiloderma

Poikiloderma Clinical Trial

— poikiloderma  

Official title:

Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02862834
• Other study ID #: Courcet AOI 2012
• Status: Completed
• Phase: N/A
• First received: August 5, 2016
• Last updated: August 10, 2016
• Start date: May 2013

Study information

• Verified date: August 2016
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Observational

Clinical 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 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 39
• Est. primary completion date: September 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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.

Exclusion Criteria:

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Poikiloderma

Intervention

Genetic:
• High-throughput exome sequencing

Locations

Country	Name	City	State
France	CHU Dijon Bourgogne	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of novel genes involved in syndromic poikiloderma		day 1	No