Biomarker-based screening and monitoring for Activated PI3Kδ Syndrome
New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase δ Syndrome
This project will test blood, urine, and stool biomarkers to track treatment response and disease activity in people aged 12 and older with Activated PI3Kδ Syndrome who are starting or already taking the PI3Kδ inhibitor leniolisib.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 14 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 7 sites (Bordeaux and 6 other locations) |
| Trial ID | NCT06694363 on ClinicalTrials.gov |
What this trial studies
This observational project will collect serial blood, urine, and stool samples from APDS patients before and during PI3Kδ inhibitor therapy, following a schedule aligned with routine care (baseline, 3, 6, and 12 months, then every six months up to two years). Whole blood will be processed to isolate PBMCs and plasma, with separate samples used for serum, RNA, and DNA extraction and comprehensive phenotyping. The study includes patients starting leniolisib as well as those already treated within the last two years when pre-treatment samples are available. Researchers will apply state-of-the-art cellular and molecular assays to identify biomarkers that correlate with clinical response, immune cell composition, and potential complications such as lymphoma.
Who should consider this trial
Good fit: Ideal participants are people aged 12 or older with a genetic diagnosis of APDS type 1 or 2 who are planning to start or have started leniolisib (within the past two years) and can provide the required blood, urine, and stool samples.
Not a fit: Patients who have received hematopoietic stem cell transplantation, lack a confirmed PIK3CD/PIK3R1 mutation, are under 12 years old, or cannot attend the participating French centers are unlikely to benefit.
Why it matters
Potential benefit: If successful, the biomarkers could help doctors monitor response to leniolisib, personalize follow-up, and detect worsening disease or complications earlier.
How similar studies have performed: Prior phase II/III trials of the PI3Kδ inhibitor leniolisib showed reduced lymph node size and improved B cell profiles with good tolerability, but the specific biomarker monitoring approach in this project is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 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 Exclusion Criteria: * Bone marrow transplantation * Refusal to participate to the study.
Where this trial is running
Bordeaux and 6 other locations
- Hôpital Haut Levêque - BORDEAUX — Bordeaux, France (Not_yet_recruiting)
- Hôpital Pellerin Enfants - BORDEAUX — Bordeaux, France (Not_yet_recruiting)
- Hôpital Jeanne de Flandres - LILLE — Lille, France (Recruiting)
- Hôpital La Timone adulte - MARSEILLE — Marseille, France (Not_yet_recruiting)
- Hôpital Necker Enfants Malades - PARIS — Paris, France (Recruiting)
- CHU IUCT Oncopole - TOULOUSE — Toulouse, France (Not_yet_recruiting)
- Hôpital des enfants - TOULOUSE — Toulouse, France (Not_yet_recruiting)
Study contacts
- Study coordinator: Michaela SEMERARO, MD, PhD
- Email: michaela.semeraro@aphp.fr
- Phone: 01 42 19 27 16
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.