Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)DICEPNCT03427593
Severe PID With Lymphoproliferation and Neutropenia
A study testing FACS analyses, Target Sequencing by NGS ( Next-generation sequencing) and Whole Exome Sequencing in people with Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID), run by University Hospital, Strasbourg, France at 1 site in France.
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 Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)
- What is being tested?
- FACS analyses, Target Sequencing by NGS ( Next-generation sequencing) and Whole Exome Sequencing
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 27 participants
- Where
- 1 siteFrance
- Study dates
- 13 Mar 2018to 5 Dec 2019
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- >18 years old
- CVID (Common Variable Immunodeficiency)
- Neutropenia
- Lymphoproliferation
Who cannot join
- Secondary immunodeficiency
Trial locations and contacts
1 site in 1 country.
France1 site
Service d'Immunologie Clinique et VIH - Hôpital Civil
Strasbourg, 67091
About this study
Official title: Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia
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
- Being tested
- FACS analyses, Target Sequencing by NGS ( Next-generation sequencing), Whole Exome Sequencing
- Keywords
- CVID, Neutropenia, Autoimmunity, Lymphoproliferation
- Medical subject headings
- Primary Immunodeficiency Diseases, Common Variable Immunodeficiency, Neutropenia, Autoimmune Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FACS analysesGenetic
FACS analyses
Target Sequencing by NGS ( Next-generation sequencing)Genetic
Target Sequencing by NGS ( Next-generation sequencing)
Whole Exome SequencingGenetic
Whole Exome Sequencing
| Study group | Role | What they receive |
|---|---|---|
| Patients | Experimental | Patients with the phenotype (PID and Neutropenia and lymphoproliferation) Receives: Genetic: FACS analyses; Genetic: Target Sequencing by NGS ( Next-generation sequencing); Genetic: Whole Exome Sequencing |
| relatives (parents) | Other | Not described Receives: Genetic: FACS analyses; Genetic: Target Sequencing by NGS ( Next-generation sequencing); Genetic: Whole Exome Sequencing |
| Controls | Sham comparator | Not described Receives: Genetic: FACS analyses |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Target-NGS
Measured: 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
Measured: 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.
Measured: 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
After WES analyses
Measured: Day 0 (inclusion)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2018
- Study start13 Mar 2018
- Primary completion13 Mar 2018
- Study completion5 Dec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 27 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03427593
- Sponsor's protocol ID
- 6642
- Acronym
- DICEP
- Status last verified
- Sep 2025
- First submitted
- 15 Jan 2018
- Last updated
- 8 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 28842786
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia
- ClinicalTrials.gov ID
- NCT03427593
- Acronym / sponsor ID
- DICEP / 6642
- Keywords
- CVID, Neutropenia, Autoimmunity, Lymphoproliferation
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 27 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 13 Mar 2018 (actual)
- Primary completion
- 13 Mar 2018 (actual)
- Study completion
- 5 Dec 2019 (actual)
- First posted
- 9 Feb 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients | Experimental | Genetic: FACS analyses, Genetic: Target Sequencing by NGS ( Next-generation sequencing), Genetic: Whole Exome SequencingPatients with the phenotype (PID and Neutropenia and lymphoproliferation) |
| relatives (parents) | Other | Genetic: FACS analyses, Genetic: Target Sequencing by NGS ( Next-generation sequencing), Genetic: Whole Exome Sequencing |
| Controls | Sham comparator | Genetic: FACS analyses |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- >18 years old
- CVID (Common Variable Immunodeficiency)
- Neutropenia
- Lymphoproliferation
Key exclusion criteria (1 listed)
- Secondary immunodeficiency
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FACS analysesFACS analyses | Genetic | Controls, Patients, relatives (parents) |
| Target Sequencing by NGS ( Next-generation sequencing)Target Sequencing by NGS ( Next-generation sequencing) | Genetic | Patients, relatives (parents) |
| Whole Exome SequencingWhole Exome Sequencing | Genetic | Patients, relatives (parents) |
Primary outcome
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Time frame: Day 0 (inclusion)
Target-NGS
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
Time frame: Day 0 (inclusion)
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.
Time frame: Day 0 (inclusion)
1 secondary outcome
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
Time frame: Day 0 (inclusion)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2026.
- Results publication: PubMed 28842786Guffroy 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing FACS analyses, Target Sequencing by NGS ( Next-generation sequencing) and Whole Exome Sequencing in people with Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID), run by University Hospital, Strasbourg, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes. (time frame: Day 0 (inclusion)). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03427593, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2026.