PhD student: Marica Rossi
Title: towards standardized and patient-centered therapeutic research in childhood sickle cell disease: international development of a minimal set of outcome measures (core outcome set)
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 Several recently developed treatments have been withdrawn from the market due to lack of efficacy or real-world toxicity.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 a barrier to the development of new treatments. Developing a specific Core Outcome Set (COS) for SCD – a minimum set of outcome measures that should be systematically evaluated – would help harmonize studies and better address patient unmet needs. Our objective is to develop a specific COS for SCD in children. The PhD project consists of three parts: 1/ performing a mapping review of therapeutic research on SCD in children and adults by analyzing clinical trials conducted over the past 10 years, to identify methodological gaps ; 2/ conducting a systematic review of outcomes used in pediatric SCD trials, analyzing their clinical relevance, the validity of selected measurement tools, and comparing patient-reported outcomes (PROs) with biomarkers; 3/ developing a pediatric COS based on a qualitative study involving children with SCD in Europe and sub-Saharan Africa, as well as an online questionnaire for parents and healthcare providers. The results will enable the use of more relevant outcome measures that consider patient concerns. This work will contribute to optimize clinical trials and reduce research waste.
