What is the role of genetic manipulation (CRISPR) in the treatment of sickle cell disease (SCD)?

Updated: Jul 22, 2021
  • Author: Mark Ventocilla, OD, FAAO; Chief Editor: Andrew G Lee, MD  more...
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Answer

Recent advances in genetic manipulation tools such as CRISPR raise the possibility that a systemic cure for SCD may be attainable. One such study involves CRISPR Therapeutics and Vertex Pharmaceuticals, who seek to enroll approximately 45 people aged 18-35 years in a joint study to determine if genetically modifying blood cells with CRISPR permanently remedies faulty sickle cells. 

Results presented in June 2020 at the Annual European Hematology Association Congress indicate that the first patient treated through the Vertex study for SCD was free from painful crisis at 9 months after treatment. Some side effects were reported but were believed to be caused by chemotherapy rather than genome editing.14

Frangoul et al describe two patients who received autologous CD34+ cells edited with CRISPR-Cas9. They write, "More than a year later, both patients had high levels of allelic editing in bone marrow and blood, increases in fetal hemoglobin that were distributed pancellularly, transfusion independence, and (in the patient with SCD) elimination of vaso-occlusive episodes."15

These and other ongoing studies show great promise for the readication of this disease.  


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