Gene therapy gives man with sickle cell disease the chance for a better future – UCLA Newsroom

For Evie Junior, living with sickle cell disease has been like running a marathon.

But its a marathon where as you keep going, the trail gets rockier and then you lose your shoes, the 27-year-old said. It gets harder as you get older. Things start to fail and all you can think about is how much worse its going to get down the road.

In sickle cell disease, a genetic mutation causes the blood-forming stem cells which give rise to all blood and immune cells to produce hard, sickle-shaped red blood cells.These misshapen cells die early, leaving an insufficient number of red blood cells to carry oxygen throughout the body. Because of their sickle shape, these cells also get stuck in blood vessels, blocking blood flow and resulting in excruciating bouts of pain that come on with no warning and can leave patients hospitalized for days.

The disease affects 100,000 people in the United States and millions around the world, the majority of whom are of African or Hispanic descent. It can ultimatelylead to strokes, organ damage and early death.

As a child growing up in the Bronx, New York, Junior had to have his gall bladder and spleen removed due to complications from the disease, but he refused to let his condition limit him. He played football, basketball and baseball during the day, even though on some nights he experienced pain crises so severe he couldnt walk.

It was just really routine if I had a sickle cell crisis, he said. Going to the emergency room, staying in the hospital, coming out in a few days and then getting back to normal life.

I want to create a better future

When he was 24 and living in Portland, Oregon, Junior began working as an emergency medical technician. He adopted the same mentality trying to treat his pain episodes the best he could, and hoping they would resolve overnight so he could get back to work. Around that time, though, the crises became harder to manage. He developed pericarditis, an inflammation in the layers of tissue around his heart, and needed six weeks to recover.

The big worry with sickle cell disease is that youre going to die young from some type of complications or damage to your organs, he said. In the last couple of years, Ive been seeing that slowly happen to me and I can only suspect that its going to keep getting worse. I want to create a better future for myself.

In July 2019, in pursuit of that future, Junior enrolled in a clinical trial foran experimental stem cell gene therapy for sickle cell disease. The study is led byUCLA Broad Stem Cell Research Centerphysician-scientistsDr. Donald KohnandDr. Gary Schillerand funded by the California Institute for Regenerative Medicine.

The therapy, developed by Kohn over the past 10 years, is intended to correct the mutation in patients blood-forming stem cells to allow them to produce healthy red blood cells.Kohn has already applied the same concept to successfully treat several immune system deficiencies, includinga cure for a form of severe combined immune deficiency, also known as bubble baby disease.

But sickle cell disease has proven more difficult to treat with gene therapy than those other conditions. Junior volunteered for the trial knowing there was a chance the therapy wouldnt cure him.

Even if it doesnt work for me, Im hoping that it can be a cure later down the road for millions of people, he said.

In July 2020, Junior received an infusion of his own blood-forming stem cells that had been genetically modified to overcome the mutation that causes his disease.

The goal of this treatment is to give him a future, let him plan for college, family or whatever he wants without worrying about getting hospitalized because of another pain crisis, said Kohn,a distinguished professor of microbiology, immunology and molecular genetics, pediatrics, and molecular and medical pharmacology at theDavid Geffen School of Medicine at UCLA.

Reason for optimism

Three months after his treatment, blood tests indicated that 70% of Juniors blood stem cells had the new corrected gene. Kohn and Schiller estimate that even a 20% correction would be enough to prevent future sickle cell complications. Junior said he hasnt had a pain crisis since undergoing the treatment and he has more energy and feels out of breath less often.

I noticed a big difference in my cardiovascular endurance in general even going for a light jog with my dogs, I could feel it, he said.

Junior and his doctors are cautiously optimistic about the results.

Its too early to declare victory, but its looking quite promising at this point, Kohn said. Once were at six months to a year, if it looks like it does now, Ill feel very comfortable that hes likely to have a permanent benefit.

After a lifetime of dealing with the unwelcome surprises of the disease, Junior is even more cautious than his doctors. But as the weeks pass, hes slowly allowing a glimmer of hope that he could soon be someone who used to have sickle cell disease. For him, that hope feels like a burst of happiness thats followed by thoughts of all the things he could do with a healthy future: pursue his dream of becoming a firefighter, get married and start a family.

I want to be present in my kids lives, so Ive always said Im not going to have kids unless I can get this cured, he said. But if this works, it means I could start a family one day.

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Gene therapy gives man with sickle cell disease the chance for a better future - UCLA Newsroom

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