Gates Foundation to fund Novartis’ development of a sickle cell disease gene therapy

Under a new grant agreement, the Bill & Melinda Gates Foundation will provide funding for Novartis to discover and develop a single-administration, in vivo gene therapy to cure sickle cell disease (SCD). The project is part of the foundation’s charitable aims to expand access to healthcare in low-resource settings.

“Existing gene therapy approaches to sickle cell disease are difficult to deliver at scale and there are obstacles to reaching the vast majority of those affected by this debilitating disease,” commented Jay Bradner, a haematologist and President of the Novartis Institutes for BioMedical Research (NIBR). “This is a challenge that calls for collective action and we are thrilled to have the support of the Bill & Melinda Gates Foundation in addressing this global unmet medical need.”

SCD is a hereditary blood disease and one of the most common genetic disorders. The disease affects millions around the world, with over 300,000 born with the condition annually. It disproportionately affects those of African descent, with sub-Saharan Africa bearing approximately 80 percent of the disease burden. Even with the best available care, SCD continues to drive premature deaths and disability.

The disorder affects the structure and function of haemoglobin, reduces the ability of red blood cells to transport oxygen efficiently and quickly progresses to a chronic vascular disease. The disease can lead to acute episodes of pain known as vaso-occlusive crises, as well as life-threatening complications. The resulting, frequent hospitalisations associated with sickle cell disease, combined with an overall lack of specialised care, places a significant burden on patients and their families, healthcare systems and the overall economy.

According to Novartis, current clinical-stage gene-based therapies require extracting cells from a patient, altering those cells in a laboratory and then reintroducing them to the patient through a complex procedure akin to a bone marrow transplant. The lab and manufacturing facilities and hospital infrastructure for such procedures often do not exist in the areas where SCD is most prevalent, excluding the vast majority of those with the disease from these life-changing gene therapies.

“Gene therapies might help end the threat of diseases like sickle cell, but only if we can make them far more affordable and practical for low-resource settings,” explained Trevor Mundel, President of Global Health at the Gates Foundation. “What is exciting about this project is that it brings ambitious science to bear on that challenge. It is about treating the needs of people in lower-income countries as a driver of scientific and medical progress, not an afterthought. It also holds the promise of applying lessons learned to help develop potentially curative options for other debilitating diseases affecting low-income populations, such as HIV.”

Novartis intends to develop an accessible in vivo gene therapy for SCD that could potentially be administered once, directly to the patient, without the need to modify the cells in a lab, thereby bypassing the need for long or repeated hospital stays or specialised lab infrastructure. To facilitate the research, the Gates Foundation has agreed to provide funding support for a wholly dedicated research team within NIBR to develop an approach to delivering this potential treatment. Novartis will provide in-kind support and access to its suite of technologies and resources.

As part of the early drug design strategy, the company said it will prioritise addressing access and distribution hurdles posed by limited healthcare infrastructure in low- and middle-income countries and the funding agreement includes specific provisions to support global access to any resulting innovations.