Sickle cell disease is a group of disorders that affects haemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical haemoglobin molecules called haemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
And thanks to gene therapy, involving a clinical trial for two years, an Alabama man, Lynndrick Holmes, is free of the disease. However, reports say that the 29-year-old, who is being monitored every 3 months, must be sickle cell-free for 5 years before it can be classified as a cure.
“The trial has totally changed my life”, said Holmes, who took part in a study at the National Institutes of Health in Bethesda, MD.
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“It feels amazing. I didn’t know how bad it was living with sickle cell until I got cured. Once I got cured, I was like, ‘I can’t believe I was living like that and I was expected to live out the rest of my life like that.'”
Holmes said the disease has been a burden to him his entire life.
A pain crisis happens when people with the disease can’t get blood to certain parts of their body. The pain can be severe and can last anywhere from several hours to several days or longer. Some may require hospitalization.
According to Julie Kanter, MD, director of the Adult Sickle Cell Clinic at the University of Alabama at Birmingham, the treatment involves taking stem cells from the patient’s bone marrow and tweaking the gene that causes cells to become misshapen.
The modified gene is then put back in using deactivated HIV. The trial is sponsored by biotech company bluebird bio and has test sites across the country.
Previously, treatment involved using someone with a matched sibling transplant, which only gave a 15% chance of a match.
“We’re moving toward a more universal cure. We hope it will be curative, but we can’t say that yet,” Kanter said, adding “(there’s) …. frequent follow-ups from the NIH, and it looks promising.”
Sickle cell disease affects about 100,000 Americans. It is a group of genetic disorders that cause red blood cells to become hard and sticky, taking on the form of a sickle, according to the CDC. When these cells travel through small blood vessels, they can get stuck, causing pain, infection, and stroke.
Its symptoms include painful swelling of the hands and feet, extreme fatigue, and chronic pain, according to the National Institutes of Health (NIH).
In the U.S., most people who have sickle cell disease, which is present at birth, are of African ancestry. About one in 13 African American babies are born with the sickle cell trait, according to the NIH. And about one in every 365 African American babies is born with sickle cell disease.
According to the NIH, the trial has about 50 slots but most have been filled already with two of those patients set to undergo the therapy at University of Alabama at Birmingham.