PhD student: Marica Rossi
Title: Towards standardized and patient-centered therapeutic research in sickle cell disease
Supervisor: Brigitte Ranque
Doctoral school: ED 393, Ecole doctorale Pierre Louis de Santé Publique Paris
Promotion: 2025-2026
Funding: FRM Poste de thèse pour internes et assistant
Thesis abstract
Sickle cell disease (SCD) is the most common genetic disorder worldwide, primarily affecting sub-Saharan Africa, and is the first disease identified at birth in France with newborn screening. SCD is characterized by a poor quality of life and a shortened life expectancy. Several recently developed treatments have been withdrawn from the market due to lack of efficacy or real-world toxicity. The absence of standardized, patient-centered outcome measures is one of the barriers to the development of new treatments. The PhD project consists of three parts: 1/ performing a scoping review of therapeutic research on SCD in children and adults by analyzing clinical trials to identify methodological gaps; 2/ conducting a systematic review of outcomes used in SCD trials, analyzing their clinical relevance, the validity of selected measurement tools, and comparing patient-reported outcomes (PROs) with biomarkers; 3/ conducting a qualitative study involving children with SCD in Europe and sub-Saharan Africa to know the symptoms they want treatment to improve. The results will facilitate the use of more relevant outcome measures that take patient concerns into account and could represent a first step toward developing a specific Core Outcome Set for SCD.
