Clinical Trial: Screening for Genes in Patients With Congenital Neutropenia

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies

Brief Summary:

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.

Detailed Summary:
Sponsor: Centre Hospitalier Universitaire Dijon

Current Primary Outcome: Identification of a gene or genes responsible for congenital neutropenia syndromic [ Time Frame: day 1 ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Centre Hospitalier Universitaire Dijon

Dates:
Date Received: August 5, 2016
Date Started: September 2013
Date Completion:
Last Updated: August 10, 2016
Last Verified: August 2016