NCT02866162

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2013

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2015

Completed
11 months until next milestone

First Submitted

Initial submission to the registry

August 5, 2016

Completed
10 days until next milestone

First Posted

Study publicly available on registry

August 15, 2016

Completed
Last Updated

March 12, 2026

Status Verified

March 1, 2026

Enrollment Period

2 years

First QC Date

August 5, 2016

Last Update Submit

March 10, 2026

Conditions

Congenital Neutropenia

Outcome Measures

Primary Outcomes (1)

  • Identification of a gene or genes responsible for congenital neutropenia syndromic

    day 1

Study Arms (1)

patients with neutropenia

Genetic: High-throughput exome sequencing

Interventions

High-throughput exome sequencingGENETIC
patients with neutropenia

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

patients with syndromic congenital neutropenia with development anomalies

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21079, France

Location

Related Publications (1)

  • Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Riviere JB, Heron D, Donadieu J, Bellanne-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Am J Med Genet A. 2017 Jan;173(1):62-71. doi: 10.1002/ajmg.a.37969. Epub 2016 Sep 12.

    PMID: 27615324RESULT

MeSH Terms

Conditions

Neutropenia, Severe Congenital, Autosomal Recessive 3

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 5, 2016

First Posted

August 15, 2016

Study Start

September 1, 2013

Primary Completion

September 1, 2015

Last Updated

March 12, 2026

Record last verified: 2026-03

Locations

FR(1)