Researchers are leading several programs designed to serve the sickle cell community in the United States and sub-Saharan Africa, officials at the National Heart, Lung, and Blood Institute (NHLBI) said during a recent webinar.
One program based in the United States is focused on building a registry for patients with sickle cell disease (SCD) and conducting studies designed to improve SCD care. Another program involves building “an information-sharing network and patient-powered registry” in the United States.
The programs in sub-Saharan Africa were designed to establish a database of SCD patients, optimize the use of hydroxyurea in children with SCD, and aid genomic studies of SCD.
, director of the Division of Blood Diseases and Resources at NHLBI, began the with an overview of the programs in sub-Saharan Africa. He described four programs with sites in nine countries (Angola, Cameroon, Democratic Republic of Congo, Ghana, Kenya, Nigeria, South Africa, Tanzania, and Uganda).
SPARCO and SADaCC
Dr. Hoots outlined the scope the Sickle Pan-African Research Consortium (SPARCO) and the Sickle Africa Data Coordinating Center (SADaCC), both part of the Sickle In Africa consortium.
A major goal of SPARCO and SADaCC is to create a Research Electronic Data Capture database that encompasses SCD patients in sub-Saharan Africa. As of April 2019, the database included 6,578 patients; the target is 13,000 patients.
Other goals of SPARCO and SADaCC are to “harmonize” SCD phenotype definitions and ontologies, create clinical guidelines for SCD management in sub-Saharan Africa, plan future cohort studies, and develop programs for newborn screening, infection prevention, and increased use of hydroxyurea.
“So far, they’re well along in establishing a registry and a database system,” Dr. Hoots said. “They’ve agreed on the database elements, phenotype definitions, and ontologies, they’ve developed some regionally appropriate clinical management guidelines, and they’ve begun skills development on the ground at all respective sites.”
Another program Dr. Hoots discussed is Realizing Effectiveness Across Continents With Hydroxyurea (), a phase 1/2 pilot study of hydroxyurea in children (aged 1-10 years) with SCD in sub-Saharan Africa.
The goals of REACH are to determine the optimal dose of hydroxyurea in this population; teach African physicians how to administer hydroxyurea; assess the safety, feasibility, and benefits of hydroxyurea; study variability in response to hydroxyurea; gather data for the Research Electronic Data Capture database; and establish a research infrastructure for future collaborations.
Results from more than 600 children enrolled in REACH were presented at the 2018 annual meeting of the American Society of Hematology and simultaneously published in the New England Journal of Medicine ().
is part of the and aims to “build capacity for genomic research in Africa,” Dr. Hoots said.
Under this program, researchers will conduct three studies to test the hypothesis that genetic variation affects the defense against hemolysis and organ damage in patients with SCD. The researchers will study existing cohorts of SCD patients, including 5,500 children and adults.
Other goals of SickleGenAfrica are to establish a molecular hematology and sickle cell mouse core, an SCD biorepository core, a bioinformatics core, and an administrative core for the coordination of activities. The program will also be used to train “future science leaders” in SCD research, Dr. Hoots said.