Screening for Genes in Patients With Congenital Neutropenia

Brief Title

Screening for Genes in Patients With Congenital Neutropenia

Official Title

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

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.
    



Study Type

Observational


Primary Outcome

Identification of a gene or genes responsible for congenital neutropenia syndromic


Condition

Congenital Neutropenia

Intervention

High-throughput exome sequencing

Study Arms / Comparison Groups

 patients with neutropenia
Description:  

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

25

Start Date

September 2013


Primary Completion Date

September 2015

Eligibility Criteria

        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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT02866162

Organization ID

Thauvin PARI 2013


Responsible Party

Sponsor

Study Sponsor

Centre Hospitalier Universitaire Dijon


Study Sponsor

, , 


Verification Date

August 2016