Severe PID With Lymphoproliferation and Neutropenia

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

— DICEP  

Official title:

Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03427593
• Other study ID #: 6642
• Status: Completed
• Phase: N/A
• Start date: March 13, 2018
• Est. completion date: December 5, 2019

Study information

• Verified date: February 2020
• Source: University Hospital, Strasbourg, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 27
• Est. completion date: December 5, 2019
• Est. primary completion date: March 13, 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria :

• >18 years old

• CVID (Common Variable Immunodeficiency)

• Neutropenia

• Lymphoproliferation

Exclusion Criteria :

• Secondary immunodeficiency

Related Conditions & MeSH terms

• Common Variable Immunodeficiency
• Immunologic Deficiency Syndromes
• Neutropenia
• Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)

Intervention

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

Locations

Country	Name	City	State
France	Service d'Immunologie Clinique et VIH - Hôpital Civil	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.	Target-NGS	Day 0 (inclusion)
Primary	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	Day 0 (inclusion)
Primary	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.		Day 0 (inclusion)
Secondary	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	Day 0 (inclusion)