Screening for Genes in Patients With Congenital Neutropenia (neutropenias)

March 10, 2026 updated by: Centre Hospitalier Universitaire Dijon

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

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

25

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Dijon, France, 21079
        • Chu Dijon Bourgogne

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

patients with syndromic congenital neutropenia with development anomalies

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
patients with neutropenia
Genetic: High-throughput exome sequencing

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

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2013

Primary Completion (Actual)

September 1, 2015

Study Registration Dates

First Submitted

August 5, 2016

First Submitted That Met QC Criteria

August 10, 2016

First Posted (Estimated)

August 15, 2016

Study Record Updates

Last Update Posted (Actual)

March 12, 2026

Last Update Submitted That Met QC Criteria

March 10, 2026

Last Verified

March 1, 2026

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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