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Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome

NCT03912129 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 200

Last updated 2019-04-11

No results posted yet for this study

Summary

Characterization of the genetic causes, and of the immunopathological clinical and biological manifestations in children with pediatric Evans syndrome included in a prospective national observational cohort of rare diseases.

Conditions

  • Evans Syndrome

Interventions

GENETIC

blood sample

A first systematic approach by Targeted-Next Generation Sequencing will be used on the entire cohort of patients with pSE. This step will be performed on a sequencing chip specifically developed to detect anomalies in known genes involved in autoimmunity. In patients for whom no mutations are identified, a whole exome sequencing (WES) approach will be applied to patients and their parents to seek to identify mutations in new genes that may be related to pSE. In patients for whom this WES approach is unsuccessful, the search for somatic lymphocyte mutations, or copy number variants will be performed before considering a complete genome sequencing . If several candidate genes are identified, the clinical data provided by the CEREVANCE and the phenotypic analyses carried out prior to genetic analyses by the CEDI laboratory will guide the choices to prioritize the study of the identified variants.

Sponsors & Collaborators

  • Institut des maladies génétiques, Paris

    collaborator UNKNOWN

  • University Hospital, Bordeaux

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-05-06
Primary Completion
2022-05-06
Completion
2022-05-06

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03912129 on ClinicalTrials.gov