CompletedNot Applicable

Screening for Genes in Patients With Congenital Neutropenia

France25 participantsStarted 2013-09

Plain-language 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.

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Identification of a gene or genes responsible for congenital neutropenia syndromic

Timeframe: day 1

Trial details

NCT IDNCT02866162

SponsorCentre Hospitalier Universitaire Dijon

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2015-09

View on ClinicalTrials.gov More Congenital Neutropenia trials