Screening for Genes in Patients With Congenital Neutropenia (neutropenias)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02866162|
Recruitment Status : Completed
First Posted : August 15, 2016
Last Update Posted : August 15, 2016
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.
|Condition or disease||Intervention/treatment|
|Congenital Neutropenia||Genetic: High-throughput exome sequencing|
|Study Type :||Observational|
|Actual Enrollment :||25 participants|
|Observational Model:||Case Control|
|Official Title:||Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies|
|Study Start Date :||September 2013|
|Actual Primary Completion Date :||September 2015|
|patients with neutropenia||
Genetic: High-throughput exome sequencing
- Identification of a gene or genes responsible for congenital neutropenia syndromic [ Time Frame: day 1 ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02866162
|CHU Dijon Bourgogne|
|Dijon, France, 21079|