NCT03427593

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
27

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Mar 2018

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 15, 2018

Completed
25 days until next milestone

First Posted

Study publicly available on registry

February 9, 2018

Completed
1 month until next milestone

Study Start

First participant enrolled

March 13, 2018

Completed
Same day until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 13, 2018

Completed
1.7 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 5, 2019

Completed
Last Updated

January 8, 2026

Status Verified

September 1, 2025

Enrollment Period

Same day

First QC Date

January 15, 2018

Last Update Submit

January 6, 2026

Conditions

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

Keywords

CVIDNeutropeniaAutoimmunityLymphoproliferation

Outcome Measures

Primary Outcomes (3)

  • Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.

    Target-NGS

    Day 0 (inclusion)

  • 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)

  • 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 Outcomes (1)

  • 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

    Day 0 (inclusion)

Study Arms (3)

Patients

EXPERIMENTAL

Patients with the phenotype (PID and Neutropenia and lymphoproliferation)

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

relatives (parents)

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

Controls

SHAM COMPARATOR
Genetic: FACS analyses

Interventions

Target Sequencing by NGS ( Next-generation sequencing)GENETIC

Target Sequencing by NGS ( Next-generation sequencing)

Patientsrelatives (parents)
Whole Exome SequencingGENETIC

Whole Exome Sequencing

Patientsrelatives (parents)
FACS analysesGENETIC

FACS analyses

ControlsPatientsrelatives (parents)

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

  • \- Secondary immunodeficiency

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Service d'Immunologie Clinique et VIH - Hôpital Civil

Strasbourg, 67091, France

Location

Related Publications (1)

  • Guffroy A, Mourot-Cottet R, Gerard L, Gies V, Lagresle C, Pouliet A, Nitschke P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, Andre-Schmutz I, Korganow AS; DEFI study group. Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome. J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26.

    PMID: 28842786RESULT

MeSH Terms

Conditions

Primary Immunodeficiency DiseasesCommon Variable ImmunodeficiencyNeutropeniaAutoimmune Diseases

Interventions

High-Throughput Nucleotide SequencingExome Sequencing

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmunologic Deficiency SyndromesImmune System DiseasesAgranulocytosisLeukopeniaCytopeniaHematologic DiseasesHemic and Lymphatic DiseasesLeukocyte Disorders

Intervention Hierarchy (Ancestors)

Sequence AnalysisGenetic TechniquesInvestigative TechniquesWhole Genome SequencingSequence Analysis, DNA

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 15, 2018

First Posted

February 9, 2018

Study Start

March 13, 2018

Primary Completion

March 13, 2018

Study Completion

December 5, 2019

Last Updated

January 8, 2026

Record last verified: 2025-09

Locations

FR(1)