Severe PID With Lymphoproliferation and Neutropenia (DICEP)

U

University Hospital, Strasbourg, France

Status

Completed

Conditions

Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)

Treatments

Genetic: Whole Exome Sequencing
Genetic: FACS analyses
Genetic: Target Sequencing by NGS ( Next-generation sequencing)

Study type

Interventional

Funder types

Other

Identifiers

NCT03427593
6642

Details and patient eligibility

About

The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under the hypothesis of a CTLA4/LRBA schema

Enrollment

27 patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria :

  • >18 years old
  • CVID (Common Variable Immunodeficiency)
  • Neutropenia
  • Lymphoproliferation

Exclusion Criteria :

  • Secondary immunodeficiency

Trial design

Primary purpose

Basic Science

Allocation

Non-Randomized

Interventional model

Parallel Assignment

Masking

None (Open label)

27 participants in 3 patient groups

Patients
Experimental group
Description:
Patients with the phenotype (PID and Neutropenia and lymphoproliferation)
Treatment:
Genetic: Target Sequencing by NGS ( Next-generation sequencing)
Genetic: FACS analyses
Genetic: Whole Exome Sequencing
relatives (parents)
Other group
Treatment:
Genetic: Target Sequencing by NGS ( Next-generation sequencing)
Genetic: FACS analyses
Genetic: Whole Exome Sequencing
Controls
Sham Comparator group
Treatment:
Genetic: FACS analyses

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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