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New Biomarker-based Strategy to Screen and Monitor for Activated Phosphoinositide 3-kinase δ Syndrome
Sponsor: Assistance Publique - Hôpitaux de Paris
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.
Key Details
Gender
All
Age Range
12 Years - Any
Study Type
OBSERVATIONAL
Enrollment
14
Start Date
2025-06-26
Completion Date
2029-12-27
Last Updated
2026-03-23
Healthy Volunteers
No
Conditions
Interventions
Blood samples
A maximum of 27 ml of blood collected at each visit for metabolic markers analysis
Urine samples
One urine sample collected at each visit for enteric virus infection research
Stool samples
One stool sample collected at each visit for enteric virus infection research
Locations (7)
Hôpital Haut Levêque - BORDEAUX
Bordeaux, France
Hôpital Pellerin Enfants - BORDEAUX
Bordeaux, France
Hôpital Jeanne de Flandres - LILLE
Lille, France
Hôpital La Timone adulte - MARSEILLE
Marseille, France
Hôpital Necker Enfants Malades - PARIS
Paris, France
CHU IUCT Oncopole - TOULOUSE
Toulouse, France
Hôpital des enfants - TOULOUSE
Toulouse, France