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
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
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
NCT ID
NCT03427593
First Posted
January 15, 2018
Last Updated
February 18, 2020
Sponsor
University Hospital, Strasbourg, France
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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