New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase δ Syndrome
BIO-APDS
2 other identifiers
observational
14
1 country
7
Brief Summary
The study would like to compare patient samples at different time points using state-of the art-phenotyping tools. Collection of blood samples of APDS patients undergoing PI3K inhibitor treatment will be collected when feasible according to the standard of care planning (a blood test is supposed to be performed for these patients at M0-M3-M6-M12 then each 6 months for a total period of 2 years from the beginning of the PI3K inhibitor treatment). The whole blood will be processed in order to isolate the peripheral blood mononuclear cells (PBMC) and the plasma. Serum, RNA and DNA extraction will be performed on a separate sample.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Jun 2025
Longer than P75 for all trials
7 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
November 15, 2024
CompletedFirst Posted
Study publicly available on registry
November 19, 2024
CompletedStudy Start
First participant enrolled
June 26, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 27, 2029
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 27, 2029
March 23, 2026
March 1, 2026
4 years
November 15, 2024
March 19, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Biomarker
Identify new biomarker marker for increased PI3K signaling to monitor the disease severity by mass cytometry, single cell RNA-sequencing, single cell ATAC-sequencing and screening for auto-antibodies
At 0 day, 3 months, 6 months, 12 months, 18 months and 24 months of treatment
Secondary Outcomes (3)
activation-induced cytidine deaminase (AID) off-target activity
At 0 day, 3 months, 6 months, 12 months, 18 months and 24 months of treatment
Correlation between biological data with the clinical data
At 0 day, 3 months, 6 months, 12 months, 18 months and 24 months of treatment
Enteric virus infection research
At 0 day, 3 months, 6 months, 12 months, 18 months and 24 months of treatment
Study Arms (2)
1 - initiating treatment
10 patients with a genetic diagnosis of APDS type 1 or type 2 who are to be treated with a selective PI3Kδ inhibitor, Lenolisib.
2 - already on treatment
4 patients with a genetic diagnosis of APDS type 1 or type 2 already treated with a selective PI3Kδ inhibitor, Lenolisib.
Interventions
A maximum of 27 ml of blood collected at each visit for metabolic markers analysis
One urine sample collected at each visit for enteric virus infection research
One stool sample collected at each visit for enteric virus infection research
Eligibility Criteria
Patients with genetic diagnosis of APDS type 1 or type 2 and planned to be treated by PI3Kδ selective inhibitor leniolisib and patients with genetic diagnosis of APDS type 1 or type 2 already treated by PI3Kδ selective inhibitor leniolisib in the last 2 years
You may qualify if:
- Group 1:
- Patients with genetic diagnosis of APDS type 1 or type 2 and planned to be treated by PI3Kδ selective inhibitor leniolisib
- Primary immunodeficient patients with new disease-causing variants in the PIK3CD gene or PIK3R1 gene
- Minimum age 12 years old
- Patients or holders of parental authority do not oppose participation in this research.
- Patients affiliated to a Health Insurance scheme or beneficiaries
- Group 2 :
- Patients with genetic diagnosis of APDS type 1 or type 2 already treated by PI3Kδ selective inhibitor leniolisib in the last 2 years
- Patients whose pre-treatment samples are available/analyzable
- Minimum age 12 years old
- Patients or holders of parental authority do not oppose participation in this research.
- patients affiliated to a Health Insurance scheme or beneficiaries
You may not qualify if:
- Bone marrow transplantation
- Refusal to participate to the study.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (7)
Hôpital Haut Levêque - BORDEAUX
Bordeaux, 33000, France
Hôpital Pellerin Enfants - BORDEAUX
Bordeaux, 33000, France
Hôpital Jeanne de Flandres - LILLE
Lille, 59000, France
Hôpital La Timone adulte - MARSEILLE
Marseille, 13000, France
Hôpital Necker Enfants Malades - PARIS
Paris, 75015, France
CHU IUCT Oncopole - TOULOUSE
Toulouse, France
Hôpital des enfants - TOULOUSE
Toulouse, France
Biospecimen
whole blood, urine, stool
MeSH Terms
Conditions
Interventions
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Sven Kracker, PHD
Institut National de la Santé Et de la Recherche Médicale, France
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 15, 2024
First Posted
November 19, 2024
Study Start
June 26, 2025
Primary Completion (Estimated)
June 27, 2029
Study Completion (Estimated)
December 27, 2029
Last Updated
March 23, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will not share