Screening for Genes in Patients With Congenital Neutropenia — neutropenias  

Congenital Neutropenia Clinical Trial

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

Status Completed

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Congenital Neutropenia
• Neutropenia

• NCT number: NCT02866162
• Study type: Observational
• Source: Centre Hospitalier Universitaire Dijon
• Status: Completed
• Phase: N/A
• Start date: September 2013