NIH and Gates Foundation Each Invests $100M to Boost Development of Affordable Gene Therapies for Sickle Cell Disease, HIV

The National Institutes of Health (NIH) and the Bill & Melinda Gates Foundation will each invest $100 million over the next four years to speed the development of affordable gene therapies for sickle cell disease (SCD) and the human immunodeficiency virus (HIV) on a global scale.

“This unprecedented collaboration focuses from the get-go on access, scalability and affordability of advanced gene-based strategies for sickle cell disease and HIV to make sure everybody, everywhere has the opportunity to be cured, not just those in high-income countries,” said NIH Director Francis S. Collins, MD, PhD.

Seventy-five percent of babies born with SCD live in sub-Saharan Africa. It is hoped that experimental gene therapies would advance to clinical trials in the United States and relevant African countries within the next seven to 10 years, and that safe, effective, and inexpensive gene therapies be made available globally, including in low-resource settings where the cost and complexity of these therapies make them inaccessible to many.

“In recent years, gene-based treatments have been groundbreaking for rare genetic disorders and infectious diseases,” Trevor Mundel, MD, PhD, president of the global health program at the Bill & Melinda Gates Foundation said in a news release.

“While these treatments are exciting, people in low- and middle-income countries do not have access to these breakthroughs. By working with the NIH and scientists across Africa, we aim to ensure these approaches will improve the lives of those most in need and bring the incredible promise of gene-based treatments to the world of public health,” he added.

Hemoglobin is the protein in red blood cells that binds oxygen, allowing oxygen to be transported around the body. Mutations in the HBB gene, which encodes a component of hemoglobin, result in the formation of sickle hemoglobin that causes sickle cell anemia.

Currently, gene therapies for SCD involves altering the patient’s own hematopoietic stem cells (bone marrow cells that divide and specialize to produce blood cells including red blood cells). Genes are introduced into the cells using a modified, harmless virus (known as a viral vector). The cells are then transplanted back into the patient where they will produce healthy red blood cells. Gene therapy has an advantage over a bone marrow transplant, as it circumvents the complications associated with a bone marrow donation.

The first goal of the collaboration between the NIH and the Gates Foundation is to develop an easy-to-administer gene-based intervention to correct the mutations in the HBB gene or deliver a functional gene that will promote the production of normal levels of hemoglobin without the need to extract cells from patients and modify them in the lab before introducing the cells back. However, this strategy, known as in vivo treatment, requires the advancement of more efficient delivery systems that can deliver the gene therapy specifically to hematopoietic stem cells.

A second goal of the collaboration will be to work together with African partners and bring potential therapies to clinical trials.

Further research is required to understand the burden of SCD in sub-Saharan Africa and to screen newborns at high risk for the disease, a task that the National Heart, Lung and Blood Institute (NHLBI) has started to tackle by building the necessary infrastructure for clinical research.

The NIH and the Gates Foundation will help boost this infrastructure to allow point-of-care screening (for example, when infants receive vaccinations), and to initiate a standard of care. This will occur outside of the official collaboration.

“Our excitement around this partnership rests not only in its ability to leverage the expertise in two organizations to reduce childhood mortality rates in low-resource countries, but to bring curative therapies for sickle cell disease and HIV to communities that have been severely burdened by these diseases for generations,” said Gary H. Gibbons, MD, director of the NHLBI.

“A person’s health should not be limited by their geographic location, whether rural America or sub-Saharan Africa; harnessing the power of science is needed to transcend borders to improve health for all,” he added.

Matshidiso Rebecca Moeti, the regional director for Africa at the World Health Organization said, “We are losing too much of Africa’s future to sickle cell disease and HIV.”

“Beating these diseases will take new thinking and long-term commitment. I’m very pleased to see the innovative collaboration announced today, which has a chance to help tackle two of Africa’s greatest public health challenges,” Moeti added.