Screening for Genes in Patients With Congenital Neutropenia

Congenital Neutropenia Clinical Trial

— neutropenias  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02866162
• Other study ID #: Thauvin PARI 2013
• Status: Completed
• Phase: N/A
• First received: August 5, 2016
• Last updated: August 10, 2016
• Start date: September 2013

Study information

• Verified date: August 2016
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Observational

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 25
• Est. primary completion date: September 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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 Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Congenital Neutropenia
• Neutropenia

Intervention

Genetic:
• High-throughput exome sequencing

Locations

Country	Name	City	State
France	CHU Dijon Bourgogne	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of a gene or genes responsible for congenital neutropenia syndromic		day 1	No