Category: Hematology/Oncology
Posted: 9/24/2024 by Sarah Dubbs, MD
(Updated: 11/22/2024)
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The FDA approved two cell-based gene therapies for the treatment of Sickle Cell Disease in December, 2023. These therapies show potential to dramatically improve the outcomes and quality of life for patients with SCD. You may soon encounter patients who received one of these treatments in the ER, so here is an intro to what they are:
Casgevy is an FDA-approved gene therapy for sickle cell disease in patients 12 and older with recurrent vaso-occlusive crises. It uses CRISPR/Cas9 genome editing to modify blood stem cells, increasing fetal hemoglobin (HbF) production, which prevents red blood cell sickling.
Lyfgenia, also a gene therapy for sickle cell disease, uses a lentiviral vector to modify stem cells to produce HbAT87Q, a hemoglobin that reduces sickling. Both therapies involve modifying the patient's own stem cells, followed by myeloablative chemotherapy, and are given as a single infusion.
Long-term safety and effectiveness is still being studied. More to come in the future!
Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and ?-Thalassemia. N Engl J Med. 2021 Jan 21;384(3):252-260. doi: 10.1056/NEJMoa2031054. Epub 2020 Dec 5. PMID: 33283989. https://www.nejm.org/doi/10.1056/NEJMoa2031054?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Interesting read from NPR featuring the first patient to receive this therapy:
