The US Food and Drug Administration (FDA) has approved two gene therapies for the treatment of sickle cell anemia in patients 12 years of age and older. About 100,000 Americans and millions of people worldwide have sickle cell disease , an inherited disease common among those whose ancestors come from sub-Saharan Africa, Mediterranean countries, India, and the Middle East.
| Sickle cell anemia is an inherited disease that is most commonly seen among people of African descent. Caused by mutations in one of the genes that encode the hemoglobin protein, the disease is inherited as an autosomal recessive trait. The mutation causes red blood cells to take on an unusual sickle shape. People affected by sickle cell disease suffer from chronic anemia and experience significant damage to the heart, lungs, and kidneys. |
Gene therapies aim to treat or cure conditions by adding new DNA or changing existing DNA. Decades of basic sickle cell research by scientists (including NIH-supported researchers) and selfless efforts by clinical trial participants have helped lay the foundation for these novel genetic approaches. Researchers, patients, doctors, and advocacy groups hope these new FDA-approved approaches will help people with sickle cell anemia live longer, less painful, and more productive lives.
The US National Institutes of Health (NIH) has long invested in basic genetic and genomic research, clinical trials, as well as translational medicine and social science studies, to improve our understanding of this widespread disease and help develop effective therapies.
For example:
- NIH investments in genome sequencing technology have made the costs of whole genome sequencing a million times cheaper than they were a couple of decades ago. Affordable sequencing technology is critical for the diagnosis of sickle cell anemia.
- NIH researchers successfully edited the disease-causing mutation into blood-forming cells taken directly from people with sickle cell anemia. One of the new treatments for sickle cell anemia uses the CRISPR gene editing system , a first in humans in the US.
- NIH funds the Cure Sickle Cell Initiative to help accelerate the development of cures for sickle cell disease, which leverages the latest genetic discoveries and technological advances to bring the most promising genetic 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 adoption and support the preparation of patients and physicians for these therapies once they become available.
- NIH leads the Democratizing Education for Sickle Cell 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. sickle cell.
"NIH celebrates this enormous milestone in the treatment of sickle cell anemia, the first human genetic disease to be understood at the protein and DNA level. Researchers have worked hard to find a durable, long-term therapy for sickle cell anemia. " Research has enabled the use of gene therapy to make genetic changes in the bone marrow of patients with sickle cell anemia, leading to normal levels of red blood cells. None of this would be possible without federal investments in basic scientific 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 reap our scientific investments in sickle cell research. However, we must remember that these advances must go hand in hand with scalable innovations that ensure universal access. “equitable access to life-changing care and that we must continue to engage in additional research efforts that minimize or eliminate potential risks that could arise associated with these therapies.” —Gary H. Gibbons, MD, Director of the National Heart, Lung Institute and the Blood.
“Historically, the sickle cell community has been underserved and unrecognized when it comes to rare genetic conditions, so it is encouraging to see sickle cell disease at the forefront of gene therapy. It is critical that people with sickle cell anemia who are considering gene therapy fully understand the treatment so they can make an informed decision about whether it is appropriate for them. “Patients need accessible, understandable and practical educational materials to help them make these decisions, as well as support from professionals and the health system to consider these therapies.” —Vence L. Bonham, Jr., JD, acting deputy director of the National Human Genome Research Institute.
