Luanda

Sickle cell anemia SCA is a common and serious blood disorder affecting over 300,000 newborns yearly, mostly in sub-Saharan Africa where many children die young due to lack of early diagnosis and care. Researchers are evaluating hydroxyurea, an oral medication already standard in high-resource countries, to improve treatment safety and effectiveness for children with SCA in Africa. This trial aims to test a personalized dosing approach that could allow safer use of hydroxyurea with limited laboratory monitoring in low-resource settings. The study involves 400 children aged 6 months to 12 years in Luanda, Angola, randomly assigned to receive either a fixed 25 mgkg starting dose of hydroxyurea or an individualized dose guided by pharmacokinetics using a battery-powered device and computer algorithm. This precision dosing method seeks to optimize benefits while minimizing toxicity. The trial will assess safety and clinical outcomes over approximately 24 months of treatment. Participants will be closely monitored for adverse events and blood responses through clinical assessments and laboratory tests during the first year and throughout treatment. The main outcomes measured include rates of serious sickle cell-related and non-related adverse events. This research will help create guidelines for hydroxyurea use in African children with SCA, supporting wider and safer access to this treatment in resource-limited areas.

Researchers are studying genetic modifiers in hemoglobinopathies, including sickle cell disease and beta-thalassemia, through a large-scale, multi-ethnic genome-wide association study GWAS. These diseases vary widely in severity, influenced partly by genetic factors. The study aims to discover new genetic modifiers, validate known ones, pool existing genomic data, standardize disease descriptions, create a comprehensive research resource, and develop risk scores to help stratify patients based on disease severity and treatment response. The study will collect blood samples during routine clinical visits to perform GWAS experiments on individuals with hemoglobinopathies. Participants include those with various genotypes of sickle cell disease, beta-thalassemia, and alpha-thalassemia, without restrictions on gender or ethnicity. All participants will provide consent, and DNA samples may be collected if not already available in existing biobanks. Participants will contribute data including genetic, phenotypic, and functional information. The study will analyze worldwide patient demographics, genotypes, and disease severity. Researchers will investigate genetic modifiers related to survival, neurological function, renal impairment, pain syndromes, pulmonary hypertension, and treatment responses. This observational study involves data collection over five years, with no investigational treatments administered.