New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase Δ Syndrome

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Nov 15, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on finding better ways to screen and monitor patients with Activated Phosphoinositide 3-kinase Delta Syndrome (APDS). Researchers want to study blood samples from patients receiving a specific treatment called a PI3K inhibitor, known as leniolisib. Over two years, blood tests will be done at certain times (like 3 months and 6 months after starting treatment) to collect different parts of the blood, which will help scientists learn more about how the treatment is working.

To be eligible for the trial, patients need to be at least 12 years old and have a genetic diagnosis of APDS type 1 or type 2. They can either be newly starting treatment with leniolisib or have already been treated in the last two years. It’s important that the patients or their guardians agree to take part, and they must have health insurance. However, individuals who have had a bone marrow transplant or choose not to participate cannot join the study. Overall, this trial aims to gather valuable information that could improve treatment for APDS in the future.

Gender

ALL

Eligibility 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.