- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02866162
Screening for Genes in Patients With Congenital Neutropenia (neutropenias)
Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.
The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
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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:
- Persons who have provided written consent
- Patients with congenital neutropenia and mental retardation and/or a development anomaly (malformation, facial dysmorphism)
- Patients who accept a clinical evaluation, and to give at least one blood sample
- Screening for chromosomal microrearrangements by normal array-CGH
Exclusion Criteria:
- Persons without national health insurance cover
- Patients who do not meet the clinical and/or biological criteria
- Refusal to give written consent to take part in the study
- Refusal to give a blood sample
- Blood samples from parents not available
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
patients with neutropenia
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Identification of a gene or genes responsible for congenital neutropenia syndromic
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
Additional Relevant MeSH Terms
Other Study ID Numbers
- Thauvin PARI 2013
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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