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Severe PID With Lymphoproliferation and Neutropenia (DICEP)

Primary Purpose

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

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
FACS analyses
Target Sequencing by NGS ( Next-generation sequencing)
Whole Exome Sequencing
Sponsored by
University Hospital, Strasbourg, France
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID) focused on measuring CVID, Neutropenia, Autoimmunity, Lymphoproliferation

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria :

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

Exclusion Criteria :

- Secondary immunodeficiency

Sites / Locations

  • Service d'Immunologie Clinique et VIH - Hôpital Civil

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm Type

Experimental

Other

Sham Comparator

Arm Label

Patients

relatives (parents)

Controls

Arm Description

Patients with the phenotype (PID and Neutropenia and lymphoproliferation)

Outcomes

Primary Outcome Measures

Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Target-NGS
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
WES (Whole exome sequencing), If no known mutations is founded by T-NGS
Validation or not of a pathological pathway involving CTLA4/LRBA or a related pathway in T-cells. Validation by the mean of functional analysis of T-cells in vitro of CTLA4 expression and response to stimulation. RNA-sequencing in sorted cells.

Secondary Outcome Measures

Deciphering of new possible genes involved in the phenotype : Patient without known mutation in genes involved in PID will benefit of an extended analyse of the WES to find a possible condidate genes
After WES analyses

Full Information

First Posted
January 15, 2018
Last Updated
February 18, 2020
Sponsor
University Hospital, Strasbourg, France
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1. Study Identification

Unique Protocol Identification Number
NCT03427593
Brief Title
Severe PID With Lymphoproliferation and Neutropenia
Acronym
DICEP
Official Title
Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia
Study Type
Interventional

2. Study Status

Record Verification Date
February 2020
Overall Recruitment Status
Completed
Study Start Date
March 13, 2018 (Actual)
Primary Completion Date
March 13, 2018 (Actual)
Study Completion Date
December 5, 2019 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Strasbourg, France

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief Summary
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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)
Keywords
CVID, Neutropenia, Autoimmunity, Lymphoproliferation

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
27 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Patients
Arm Type
Experimental
Arm Description
Patients with the phenotype (PID and Neutropenia and lymphoproliferation)
Arm Title
relatives (parents)
Arm Type
Other
Arm Title
Controls
Arm Type
Sham Comparator
Intervention Type
Genetic
Intervention Name(s)
FACS analyses
Intervention Description
FACS analyses
Intervention Type
Genetic
Intervention Name(s)
Target Sequencing by NGS ( Next-generation sequencing)
Intervention Description
Target Sequencing by NGS ( Next-generation sequencing)
Intervention Type
Genetic
Intervention Name(s)
Whole Exome Sequencing
Intervention Description
Whole Exome Sequencing
Primary Outcome Measure Information:
Title
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Description
Target-NGS
Time Frame
Day 0 (inclusion)
Title
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
Description
WES (Whole exome sequencing), If no known mutations is founded by T-NGS
Time Frame
Day 0 (inclusion)
Title
Validation or not of a pathological pathway involving CTLA4/LRBA or a related pathway in T-cells. Validation by the mean of functional analysis of T-cells in vitro of CTLA4 expression and response to stimulation. RNA-sequencing in sorted cells.
Time Frame
Day 0 (inclusion)
Secondary Outcome Measure Information:
Title
Deciphering of new possible genes involved in the phenotype : Patient without known mutation in genes involved in PID will benefit of an extended analyse of the WES to find a possible condidate genes
Description
After WES analyses
Time Frame
Day 0 (inclusion)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria : >18 years old CVID (Common Variable Immunodeficiency) Neutropenia Lymphoproliferation Exclusion Criteria : - Secondary immunodeficiency
Facility Information:
Facility Name
Service d'Immunologie Clinique et VIH - Hôpital Civil
City
Strasbourg
ZIP/Postal Code
67091
Country
France

12. IPD Sharing Statement

Learn more about this trial

Severe PID With Lymphoproliferation and Neutropenia

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