Actively Recruiting
New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase δ Syndrome
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-03-23
14
Participants Needed
7
Research Sites
235 weeks
Total Duration
On this page
Sponsors
A
Assistance Publique - Hôpitaux de Paris
Lead Sponsor
U
URC-CIC Paris Descartes Necker Cochin
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase δ Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with genetic diagnosis of APDS type 1 or type 2 planned for PI3Kδ selective inhibitor leniolisib treatment
- Primary immunodeficient patients with new disease-causing variants in PIK3CD or PIK3R1 genes
- Minimum age 12 years old
- Patients or their guardians do not oppose participation
- Patients affiliated with a health insurance scheme or beneficiaries
- Patients with genetic diagnosis of APDS type 1 or type 2 already treated with leniolisib in the last 2 years
- Patients with available pre-treatment samples
You will not qualify if you...
- Previous bone marrow transplantation
- Refusal to participate in the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 7 locations
1
Hôpital Haut Levêque - BORDEAUX
Bordeaux, France, 33000
Not Yet Recruiting
2
Hôpital Pellerin Enfants - BORDEAUX
Bordeaux, France, 33000
Not Yet Recruiting
3
Hôpital Jeanne de Flandres - LILLE
Lille, France, 59000
Actively Recruiting
4
Hôpital La Timone adulte - MARSEILLE
Marseille, France, 13000
Not Yet Recruiting
5
Hôpital Necker Enfants Malades - PARIS
Paris, France, 75015
Actively Recruiting
6
CHU IUCT Oncopole - TOULOUSE
Toulouse, France
Not Yet Recruiting
7
Hôpital des enfants - TOULOUSE
Toulouse, France
Not Yet Recruiting
Research Team
M
Michaela SEMERARO, MD, PhD
CONTACT
L
Laure CHOUPEAUX, MSc
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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