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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. Identifier: NCT02866162
Recruitment Status : Completed
First Posted : August 15, 2016
Last Update Posted : August 15, 2016
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

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.

Condition or disease Intervention/treatment
Congenital Neutropenia Genetic: High-throughput exome sequencing

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Study Type : Observational
Actual Enrollment : 25 participants
Observational Model: Case Control
Time Perspective: Prospective
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

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

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
patients with syndromic congenital neutropenia with development anomalies

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

Information from the National Library of Medicine

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 identifier (NCT number): NCT02866162

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CHU Dijon Bourgogne
Dijon, France, 21079
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon
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Responsible Party: Centre Hospitalier Universitaire Dijon Identifier: NCT02866162    
Other Study ID Numbers: Thauvin PARI 2013
First Posted: August 15, 2016    Key Record Dates
Last Update Posted: August 15, 2016
Last Verified: August 2016
Additional relevant MeSH terms:
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Leukocyte Disorders
Hematologic Diseases