Screening for Genes in Patients With Congenital Neutropenia

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.

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Key information

Conditions

Congenital Neutropenia Neutropenia, Severe Congenital, Autosomal Recessive 3

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Dijon Bourgogne

Dijon, 21079, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

High-throughput exome sequencing

Genetic

Primary outcomes

Identification of a gene or genes responsible for congenital neutropenia syndromic

Time frame: day 1

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Official study title

Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies

Acronym: neutropenias

Important dates

Study start: 2013
Primary completion: 2015
First posted: Aug 15, 2016
Registry last updated: Mar 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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