Evans SyndromeACTIONNCT03912129
Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome
A study testing blood sample in people with Evans Syndrome, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
Characterization of the genetic causes, and of the immunopathological clinical and biological manifestations in children with pediatric Evans syndrome included in a prospective national observational cohort of rare diseases. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Evans Syndrome
- What is being tested?
- blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 374 participants
- Where
- 1 siteFrance
- Study dates
- 5 Jul 2019to 9 Jul 2023
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient registered in the French national prospective OBS'CEREVANCE cohort
- Diagnosis of pediatric Evans syndrome (PTI+AHAI)
- Age strictly under 18 years at the initial onset
- Child residing in metropolitan France and affiliated to a french health insurance system
- Free, informed, written and signed consent
Who cannot join
- Evans syndrome secondary to chemotherapy, bone marrow transplantation or organ transplantation.
- Refusal to participate from parents/patients
Trial locations and contacts
1 site in 1 country.
About this study
Characterization of the genetic causes, and of the immunopathological clinical and biological manifestations in children with pediatric Evans syndrome included in a prospective national observational cohort of rare diseases.
Read the detailed description
Pediatric Evans syndrome (pES) is a rare and severe disease combining immunologic thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA). French patients from the 30 hematologic pediatric centers are from 2004 included in a prospective national OBS'CEREVANCE cohort.
A first pilot study revealed a monogenic cause in 7/18 patients (40%) with mutations in the CTLA-4, LRBA, STAT3 GOF, and KRAS. TNGS or exome studies were performed between 2015 and 2018 inn 80 patients with pSE from the OBS'CEREVANCE cohort. This approach, combined with by immunophenotyping lymphocyte, identified a genetic cause of the disease in 26 patients (32%) (TNFRSF6, CTLA4, LRBA, STAT3 GOF, PIK3CD, RAG1, KRAS) and potential causal mutations in 18 other patients (22%), bringing the proportion of potential single gene cause to 76%.
The central hypothesis of this study is that most, if not all, cases of pSE are related to a monogenic or digenic cause, possibly with the intervention of genetic modifiers such as somatic mutations.
- Conditions
- Evans Syndrome
- Being tested
- blood sample
- Keywords
- pediatric Evans Syndrome, genetic causes, immunophenotyping immunologic explorations
- Medical subject headings
- Evans Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleGenetic
A first systematic approach by Targeted-Next Generation Sequencing will be used on the entire cohort of patients with pSE. This step will be performed on a sequencing chip specifically developed to detect anomalies in known genes involved in autoimmunity.
In patients for whom no mutations are identified, a whole exome sequencing (WES) approach will be applied to patients and their parents to seek to identify mutations in new genes that may be related to pSE.
In patients for whom this WES approach is unsuccessful, the search for somatic lymphocyte mutations, or copy number variants will be performed before considering a complete genome sequencing .
If several candidate genes are identified, the clinical data provided by the CEREVANCE and the phenotypic analyses carried out prior to genetic analyses by the CEDI laboratory will guide the choices to prioritize the study of the identified variants.
| Study group | Role | What they receive |
|---|---|---|
| pediatric Evans Syndrome | Other | Collection of biological samples of children with pSE included in the the OBS'CEREVANCE cohort and their parents, for genetic and functional immunological analyzes. Receives: Genetic: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients for whom a causal mutation has been identified (known or new)
Measured: after the genetic analyzes carried out on all the participants included, may 2022
The number of biological samples collected for PSE children included in the OBS'CEREVANCE cohort and their relatives will be recorded
Measured: every 3 months, between may 2019 and may 2022
Secondary outcomes (4)
Immunopathological clinical manifestations
Measured: after the genetic analyzes carried out on all the participants included, may 2022
Abnormalities of lymphocyte immunophenotyping
Measured: after the genetic analyzes carried out on all the participants included, may 2022
The correlation between causal mutations identified with the clinical and immunological phenotype
Measured: after the genetic analyzes carried out on all the participants included, may 2022
Physiopathological and potentially therapeutic classification of pES-T
Measured: after the genetic analyzes carried out on all the participants included, may 2022
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Apr 2019
- Study start5 Jul 2019
- Primary completion9 Jul 2023
- Study completion9 Jul 2023
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 Evans SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- 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
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 374 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Collaborators
- Institut des maladies génétiques, Paris
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03912129
- Sponsor's protocol ID
- CHUBX 2018/49
- Acronym
- ACTION
- Status last verified
- Jul 2026
- First submitted
- 9 Apr 2019
- Last updated
- 6 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magerus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J, Fourrage C, Hanein S, Zarhrate M, Pasquet M, Abou Chahla W, Barlogis V, Bertrand Y, Pellier I, Colomb Bottollier E, Fouyssac F, Blouin P, Thomas C, Cheikh N, Dore E, Pondarre C, Plantaz D, Jeziorski E, Millot F, Garcelon N, Ducassou S, Perel Y, Leblanc T, Neven B, Fischer A, Rieux-Laucat F; members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE). Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood. 2019 Jul 4;134(1):9-21. doi: 10.1182/blood-2018-11-887141. Epub 2019 Apr 2.
PubMed 30940614
Study at a glance
From the registry record, last updated by the sponsor on 6 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome
- ClinicalTrials.gov ID
- NCT03912129
- Acronym / sponsor ID
- ACTION / CHUBX 2018/49
- Conditions
- Evans Syndrome
- Keywords
- pediatric Evans Syndrome, genetic causes, immunophenotyping immunologic explorations
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 374 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Collaborators
- Institut des maladies génétiques, Paris
- Study start
- 5 Jul 2019 (actual)
- Primary completion
- 9 Jul 2023 (actual)
- Study completion
- 9 Jul 2023 (actual)
- First posted
- 11 Apr 2019 (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.
Characterization of the genetic causes, and of the immunopathological clinical and biological manifestations in children with pediatric Evans syndrome included in a prospective national observational cohort of rare diseases.
Detailed description
Pediatric Evans syndrome (pES) is a rare and severe disease combining immunologic thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA). French patients from the 30 hematologic pediatric centers are from 2004 included in a prospective national OBS'CEREVANCE cohort.
A first pilot study revealed a monogenic cause in 7/18 patients (40%) with mutations in the CTLA-4, LRBA, STAT3 GOF, and KRAS. TNGS or exome studies were performed between 2015 and 2018 inn 80 patients with pSE from the OBS'CEREVANCE cohort. This approach, combined with by immunophenotyping lymphocyte, identified a genetic cause of the disease in 26 patients (32%) (TNFRSF6, CTLA4, LRBA, STAT3 GOF, PIK3CD, RAG1, KRAS) and potential causal mutations in 18 other patients (22%), bringing the proportion of potential single gene cause to 76%.
The central hypothesis of this study is that most, if not all, cases of pSE are related to a monogenic or digenic cause, possibly with the intervention of genetic modifiers such as somatic mutations.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| pediatric Evans Syndrome | Other | Genetic: blood sampleCollection of biological samples of children with pSE included in the the OBS'CEREVANCE cohort and their parents, for genetic and functional immunological analyzes. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Patient registered in the French national prospective OBS'CEREVANCE cohort
- Diagnosis of pediatric Evans syndrome (PTI+AHAI)
- Age strictly under 18 years at the initial onset
- Child residing in metropolitan France and affiliated to a french health insurance system
- Free, informed, written and signed consent
Key exclusion criteria (2 listed)
- Evans syndrome secondary to chemotherapy, bone marrow transplantation or organ transplantation.
- Refusal to participate from parents/patients
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 |
|---|---|---|
| blood sampleA first systematic approach by Targeted-Next Generation Sequencing will be used on the entire cohort of patients with pSE. This step will be performed on a sequencing chip specifically developed to detect anomalies in known genes involved in autoimmunity. In patients for whom no mutations are identified, a whole exome sequencing (WES) approach will be applied to patients and their parents to seek to identify mutations in new genes that may be related to pSE. In patients for whom this WES approach is unsuccessful, the search for somatic lymphocyte mutations, or copy number variants will be performed before considering a complete genome sequencing . If several candidate genes are identified, the clinical data provided by the CEREVANCE and the phenotypic analyses carried out prior to genetic analyses by the CEDI laboratory will guide the choices to prioritize the study of the identified variants. | Genetic | pediatric Evans Syndrome |
Primary outcome
Number of patients for whom a causal mutation has been identified (known or new)
Time frame: after the genetic analyzes carried out on all the participants included, may 2022
The number of biological samples collected for PSE children included in the OBS'CEREVANCE cohort and their relatives will be recorded
Time frame: every 3 months, between may 2019 and may 2022
4 secondary outcomes
Immunopathological clinical manifestations
Time frame: after the genetic analyzes carried out on all the participants included, may 2022
Abnormalities of lymphocyte immunophenotyping
Time frame: after the genetic analyzes carried out on all the participants included, may 2022
The correlation between causal mutations identified with the clinical and immunological phenotype
Time frame: after the genetic analyzes carried out on all the participants included, may 2022
Physiopathological and potentially therapeutic classification of pES-T
Time frame: after the genetic analyzes carried out on all the participants included, may 2022
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 6 Jul 2026.
- Results publication: PubMed 30940614Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magerus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J, Fourrage C, Hanein S, Zarhrate M, Pasquet M, Abou Chahla W, Barlogis V, Bertrand Y, Pellier I, Colomb Bottollier E, Fouyssac F, Blouin P, Thomas C, Cheikh N, Dore E, Pondarre C, Plantaz D, Jeziorski E, Millot F, Garcelon N, Ducassou S, Perel Y, Leblanc T, Neven B, Fischer A, Rieux-Laucat F; members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE). Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood. 2019 Jul 4;134(1):9-21. doi: 10.1182/blood-2018-11-887141. Epub 2019 Apr 2.
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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 blood sample in people with Evans Syndrome, run by University Hospital, Bordeaux 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 5 inclusion and 2 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 6 Jul 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. 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?
Number of patients for whom a causal mutation has been identified (known or new) (time frame: after the genetic analyzes carried out on all the participants included, may 2022). The study lists 2 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 NCT03912129, 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 6 Jul 2026.