Scientists see promising early results from the first studies examining the effects of gene editing on painful, inherited blood disorders that affect millions of people worldwide, especially black people.
Doctors hope that the one-time treatment that permanently changes the DNA in blood cells using a tool called CRISPR can treat, and potentially cure, sickle cell disease and beta thalassemia.
Partial results were presented at a conference of the American Society of Hematology and some were published by the New England Journal of Medicine.
All of them no longer need regular blood transfusions and are free from the pain that previously plagued their lives.
Victoria Gray, the first patient in the sickle cell study, suffered lifelong severe pain that often took her to the hospital.
« I’ve had aching pains, sharp pains, burning pains, as you call it. That’s all I’ve known all my life, ”said Ms. Gray, 35, who lives in Forest, Mississippi. “I hurt everywhere my blood flowed. ”
Since her treatment a year ago, Ms. Gray has weaned herself from pain medication that she relied on to relieve her symptoms.
« It’s something I’ve prayed for all my life, » she said. “I pray everyone will have the same results as me. ”
Sickle cells affect millions, mostly blacks. Beta thalassemia affects about 1 in 100. 000 people. The only cure for now is a bone marrow transplant from a closely matched donor without the disease, such as:. B.. a sibling.
Both diseases involve mutations in a gene for hemoglobin, the substance in red blood cells that carries oxygen around the body.
In sickle cells, defective hemoglobin leads to deformed, sickle-shaped blood cells that do not transport oxygen well. They can stick together and clog small vessels, causing pain, organ damage, and strokes.
People with beta thalassemia do not have enough normal hemoglobin and experience anemia, fatigue, shortness of breath, and other symptoms. In severe cases, transfusions are required every two to five weeks.
When babies breathe on their own after birth, a gene is activated that tells cells to switch and make an adult form of hemoglobin instead. The adult hemoglobin is defective in people with one of these diseases.
A head of the study, Dr. Haydar Frangoul of the Sarah Cannon Research Institute in Nashville said, “We turn that switch back off and make the cells believe that they are basically back in the womb. « . This means that they are producing fetal hemoglobin again.
The treatment involves removing stem cells from the patient’s blood and then using CRISPR in a laboratory to turn off the switching gene.
Patients are given potent drugs to kill their other faulty blood-producing cells. Then they get their own laboratory-modified stem cells back.
Saturday’s results were in the first 10 patients, seven with beta thalassemia and three with sickle cells.
The two studies in Europe and the US are ongoing and will each include 45 patients.
Tests to date suggest that gene editing is working as intended with no unintended effects, said Dr. Frangoul.
The study was sponsored by therapy manufacturers CRISPR Therapeutics, headquartered in Zug, Switzerland, and Vertex Pharmaceuticals, based in Massachusetts. Some study leaders advise for the company.
Regardless, Dr. David Williams of Boston Children’s Hospital at Harvard announced partial results of a study in which a novel gene therapy was tested, with which the production of fetal hemoglobin in sickle cells was also to be restored.
Six patients, including one age seven, received treatment that involved removing some of their blood stem cells and changing them in the lab to dampen the hemoglobin switching gene.
Nobody had pain crises, five of the six no longer need transfusions and all have almost normal hemoglobin, he reported at the conference and in the medical journal.
Dr. Williams is named after a patent for the therapy that Boston Children’s licensed to Bluebird Bio of Cambridge, Massachusetts. The company provided the therapy for the study, which will involve a total of 10 people, to ensure safety. A larger study to test the effectiveness of the treatment is planned.
Dr. Williams, who did not participate in Dr.. Frangoul said it « validates » this approach of targeting the hemoglobin switching gene against sickle cells.
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Sickle Cell Disease, Cell, Gene Therapy, Hematological Disease, Medicine
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