"NEJM" Three-year clinical trials in patients prove that gene therapy can reverse sickle cell disease

A study of gene therapy for sickle cell disease found that a single dose of treatment can restore the blood cells of some patients to their normal shape and eliminate the most serious complications of the disease in at least three years

Four patients from New York Presbyterian Hospital/Columbia University Irvine Medical Center participated in this multicenter study, which is the first report of long-term results of sickle cell gene therapy

The single-dose treatment on 35 adults and adolescents with sickle cell disease basically corrected the shape of the patient’s red blood cells, but also completely eliminated the severe pain caused when the stiff crescent-shaped red blood cells gathered and blocked blood vessels.

"You can't overstate the potential impact of this new treatment," said Markus Y.

Sickle cell disease is caused by mutations in the β-globin gene, resulting in abnormal production of hemoglobin, which is an oxygen-carrying molecule in red blood cells

This new gene therapy is called LentiGlobin, which can collect hematopoietic stem cells from the blood of patients

In clinical trials, this therapy completely eliminated the severe pain crisis within a few months after the infusion (follow-up time ranged from 4 months to 38 months).

New York Presbyterian Hospital/Columbia University Irvine Medical Center's Bone Marrow Transplant and Cell Therapy Program Director Mapala said: "This effect has continued throughout the trial period, which suggests that the results may be long-lasting

Because LentiGlobin uses the patient's own stem cells, there is no risk of rejection, which is a common complication of traditional bone marrow transplantation, Mapala added

One limitation of gene therapy is that patients must first receive high-dose chemotherapy to eliminate old stem cells and make room for improved stem cells.

Researchers are currently studying the use of low-toxicity methods to regulate bone marrow before gene therapy

The New York Presbyterian Church/Columbia University Irvine Medical Center is one of the few centers in the world that participates in clinical trials of gene therapy for sickle cell disease

New England Journal of Medicine

DOI

10.