- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02862834
Screening for Genes in Patients With Poikiloderma (poikiloderma)
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
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
-
Dijon, France, 21079
- Chu Dijon Bourgogne
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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:
- None
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
patients with poikiloderma
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Identification of novel genes involved in syndromic poikiloderma
Time Frame: day 1
|
day 1
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Other Study ID Numbers
- Courcet AOI 2012
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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