Severe PID With Lymphoproliferation and Neutropenia

NCT ID: NCT03427593

Last Updated: 2026-01-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

27 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-03-13

Study Completion Date

2019-12-05

Brief Summary

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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

Detailed Description

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Conditions

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

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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Patients

Patients with the phenotype (PID and Neutropenia and lymphoproliferation)

Group Type EXPERIMENTAL

FACS analyses

Intervention Type GENETIC

FACS analyses

Target Sequencing by NGS ( Next-generation sequencing)

Intervention Type GENETIC

Target Sequencing by NGS ( Next-generation sequencing)

Whole Exome Sequencing

Intervention Type GENETIC

Whole Exome Sequencing

relatives (parents)

Group Type OTHER

FACS analyses

Intervention Type GENETIC

FACS analyses

Target Sequencing by NGS ( Next-generation sequencing)

Intervention Type GENETIC

Target Sequencing by NGS ( Next-generation sequencing)

Whole Exome Sequencing

Intervention Type GENETIC

Whole Exome Sequencing

Controls

Group Type SHAM_COMPARATOR

FACS analyses

Intervention Type GENETIC

FACS analyses

Interventions

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FACS analyses

FACS analyses

Intervention Type GENETIC

Target Sequencing by NGS ( Next-generation sequencing)

Target Sequencing by NGS ( Next-generation sequencing)

Intervention Type GENETIC

Whole Exome Sequencing

Whole Exome Sequencing

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

\- Secondary immunodeficiency
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital, Strasbourg, France

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Service d'Immunologie Clinique et VIH - Hôpital Civil

Strasbourg, , France

Site Status

Countries

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France

References

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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.

Reference Type RESULT
PMID: 28842786 (View on PubMed)

Other Identifiers

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6642

Identifier Type: -

Identifier Source: org_study_id

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