The future of sickle cell disease treatment through gene therapy
In a new review article published in The CRISPR Journal, researchers from Children’s National Hospital discuss the progress of gene therapies for sickle cell disease – from preclinical studies to clinical trials and FDA approval – along with the many challenges of these treatments.
Over the past few years, the advances of gene therapy for sickle cell disease (SCD) offer a potential cure for a condition previously managed only through symptom relief and limited treatments. SCD is a hereditary blood disorder caused by a mutation in the beta globin gene leading to painful symptoms and complications.
In a new review article published in The CRISPR Journal, researchers from Children’s National Hospital discuss the progress of gene therapies for SCD – from preclinical studies to clinical trials and FDA approval – along with the many challenges of these treatments.
“We are hoping to bring attention to the past, present and future of this topic,” says Henna Butt, MD, pediatric hematology oncology fellow at Children’s National and one of the review authors. “It is exciting to see the technology move forward and see how far we have come in a disease where so little progress has been made historically.”
The hold up in the field
Gene therapy for SCD remains a time- and resource-intensive process, often taking several months from the initial patient consultation to treatment.
“Progress in SCD gene therapy has been slowed by high costs, limited accessibility and safety concerns, such as off-target effects,” says Dr. Butt. “Additionally, long-term efficacy data is still needed to confirm the durability of these treatments. Regulatory hurdles and ethical considerations also contribute to the delays.”
Moving the field forward
“By using cutting-edge techniques like CRISPR and base editing to directly correct the genetic mutation responsible for SCD, these therapies have the potential to offer long-term or even permanent relief,” says Dr. Butt. “Success in this area could revolutionize treatment options, improve patient outcomes and reduce the global burden of SCD — especially as therapies become more accessible and affordable.”
“Advancing gene therapy for sickle cell disease requires not just scientific innovation, but also the clinical expertise and systems to deliver it safely and effectively,” says David Jacobsohn, MD, SCM, MBAD, chief of Bone and Marrow Transplantation at Children’s National. “As access expands, we must ensure these therapies reach the patients who need them most.”
The patient benefit
Gene therapy offers a potential cure for SCD, reducing the need for ongoing treatments and significantly improving quality of life. It can lower the risk of complications and infections, and over time, reduce healthcare costs – especially for patients with limited access to traditional care. Raising awareness of current challenges can help drive advocacy for affordability and access.
Children’s National leads the way
Children’s National was the first hospital in the world to collect stem cells for the LYFGENIA™ treatment and one of the few pediatric hospitals in the country that offers both FDA-approved sickle cell disease gene therapies – CASGEVY™ (exagamglogene autotemcel) and LYFGENIA™ (lovotibeglogene autotemcel).
Additional authors from Children’s National include: Mamatha Mandava, MD, and David Jacobsohn, MD, SCM, MBA
Read the full review published in The CRISPR Journal.
