NIH statement on new FDA-approved gene therapies for sickle cell disease

Today, the U.S. Food and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 Americans and millions of people around the world have sickle cell disease, a hereditary disease common among those whose ancestors come from sub-Saharan Africa, Mediterranean countries, India and the Middle East.

The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.

For example:

• NIH investments in genome sequencing technology have led to the costs of whole genome sequencing being over a million-fold less expensive than a couple of decades ago. Affordable sequencing technology is critical to the diagnosis of sickle cell disease.  
• NIH researchers successfully edited the disease-causing mutation in blood-forming cells taken directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing system, a first for humans in the U.S.  
• NIH funds the Cure Sickle Cell Initiative to help speed the development of cures for sickle cell disease, which takes advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based curative therapies safely into clinical trials.  
• NIH is working closely with the Centers for Medicare and Medicaid Services (CMS) to identify and reduce barriers to uptake and to support readiness of patients and clinicians for these therapies once available.  
• NIH leads The Democratizing Education for Sickle Cell Disease Gene Therapy Project, a collaborative effort that aims to help patients and their support networks navigate emerging developments in gene therapies for sickle cell disease.

"NIH celebrates this enormous milestone in treatment for sickle cell disease, the first human genetic disease that was understood at the protein and DNA levels. Researchers have worked hard to find a long-term, durable therapy for sickle cell disease. Research has enabled the use of gene therapy to make genetic changes in the bone marrow of sickle cell patients, leading to normal red blood cell levels. None of this would be possible without federal investments in basic science research."

—Eric Green, M.D., Ph.D., Director of the National Human Genome Research Institute

"We have made some exciting research advances over the years and are ready to collect on our scientific investments in sickle cell research. However, we must remember that these advances need to go hand-in-hand with scalable innovations that will ensure equitable access to life-altering care and that we must continue to engage in additional research endeavors that will minimize or eliminate potential risks that might be associated with these therapies."

—Gary H. Gibbons, M.D., Director of the National Heart, Lung, and Blood Institute

“The sickle cell disease community has historically been underserved and underacknowledged when it comes to rare genetic conditions, so it is heartening to see sickle cell disease at the forefront of gene therapy. It is critical that people with sickle cell disease who are considering gene therapy fully understand the treatment so they can make an informed decision on whether it is appropriate for them. Patients need accessible, understandable and actionable educational materials to help them make such decisions, as well as support from practitioners and the healthcare system to consider these therapies.”

—Vence L. Bonham, Jr., J.D., Acting Deputy Director of the National Human Genome Research Institute

Additional Resources

For more information, visit:

• Sickle cell disease gene therapy education project
• Talking Glossary of Genomic and Genetic Terms: Sickle Cell Disease
• Sickle Cell Disease Treatment (NHLBI)
• Sickle Cell Disease: Research, Programs, and Progress (NHLBI)