People living with sickle cell disease may have a new treatment option that can cure them of the blood disorder.
Researchers at the University of Illinois at Chicago have conducted a clinical trial that has cured 12 adults of sickle cell disease. The treatment was developed by the National Institutes of Health.
Dr. Santosh Saraf, co-investigator of the trial, said the treatment builds on a stem cell transplant performed 30 years ago. A young girl living with leukemia and sickle cell disease was given a transplant to cure her leukemia. The transplant also cured her of sickle cell.
Saraf said since then, most transplants have been performed in children because transplantation in adults with sickle cell disease was found to be too toxic.
"In the last about five to 10 years, people have been trying to use milder regimens, and I think the National Institutes of Health kind of hit a home run with this chemotherapy-free regimen with Alemtuzumab, which is an antibody that turns off the T-cells, which is important for rejection," Saraf said.
Sickle cell is a hereditary blood disease where red blood cells are misshapen into a crescent shape, making it difficult to carry oxygen throughout the body. It is most common in people of African descent.
It is estimated that more than 70,000 Americans have sickle cell disease and about 1,000 babies are born with the disease each year in the U.S., according to the Sickle Cell Disease Association of America.
Here in Louisville, more than 400 people are actively being treated for sickle cell disease, according to Dr. Shawn Glisson, medical oncologist hematologist at Norton Healthcare. He said treatment options are less than satisfactory because of the side effects.
"They require narcotics, which gets into a whole other set of issues and chronic pain. And we can't cure the disease unless someone goes through something complicated like a transplant, and not everybody has a matching bone marrow that they can receive," Glisson said.
He said many patients use Norton's Infusion Centers to get fluids and oxygen to break their crisis — a blockage causing sudden pain that can last for hours or days — before they need to be admitted to a hospital. He also said some of his patients receive exchange transfusions where their blood is replaced every six weeks.
But Glisson said he has referred several patients for transplantation consideration. And for some people, that is a viable option.
Kamia Quiñones is one of the patients who has been cured of sickle cell disease. The 35-year-old wife and mother lives in Hobart, Ind., near Chicago. She said growing up with sickle cell was painful.
"It was torture, really," she said. "That's what I remember a lot — being sick. Not being able to do what other kids did. I felt like it was holding me back."
It seemed to worsen as the years went on, she said. Quiñones began having a crisis once a month or every six weeks after graduating from high school. Then, in the fall of 2013, her mother told her of a news report about people being cured. She contacted UIC Hospital to find out about signing up for the trial. They went over her health history and made sure she was in good physical shape to have the transplant.
From there, her siblings were tested to see if any of them was a bone marrow match. Her brother was a perfect match. He started taking injections to build up his stem cells for the transplant.
Only people whose human leukocyte antigen (HLA) proteins are perfectly matched can be donors for patients, according to Saraf. Siblings have a 25 percent chance of being a complete match, and they must have the same parents, he said. If the HLA proteins match, the body is more likely to accept the cells.
And, according to Saraf, this bone marrow match is the reason why the transplant isn't a treatment option for many living with sickle cell.
"So, having that donor is one of our big hurdles, and only about a quarter of our patients — and maybe even less — will have that perfect match," he said.
Quiñones said the transplant was simple compared to the amount of pain and complications she'd experienced throughout her life. But she said it has taken time for her to adjust.
"I was still really nervous and not able to mentally accept, like 'is this really for real?' I'm waiting on a crisis to happen," she said. "I'm waiting for something to say this is not true, because this is something I figured I'd die with. There was no cure. I figured I'd live out the rest of my days with this disease. So, for it to be gone is mind-blowing."
The transplant has a more than 90 percent success rate without serious complications, according to Saraf. The first transplant was performed in y 2011.
Saraf said of the 13 patients who underwent the procedure, a dozen have retained their donated stem cells enough so that they are essentially cured of the disease. He said only one patient's sickle cell disease has returned, which he said was the result of that patient not taking anti-rejection medication as prescribed.
Another hurdle for the treatment is insurance. Not every insurer will cover the stem cell transplant as a treatment.
Glisson said if more people were educated about sickle cell and how to prevent it, no one would have to suffer from the disease, which he describes as one of the worst conditions people can have for chronic suffering. Generally, both parents must pass on a defective gene for a child to develop sickle cell disease.
"There's not enough support in educating the population in terms of, before people have babies to get checked, and it seems to be a low priority in many people's mind to think about what kind of genetic diseases they might pass," Glisson said.
Saraf said researchers are looking to expand the treatment to people who have a perfect match in the world registry pool of stem cell donors.
"We encourage everybody to consider being a potential donor for other people. The more potential donors we have the more potential chances for a cure we have for our patients," Saraf said.
As for Quiñones, she said she's enjoying the feeling of a normal life.
"More energy. It's like I'm free almost. Like I was a prisoner at first," she said. "Now, I'm free to live life like a normal person. It's nice to be normal."
(Photo of Kamia Quiñones. Provided by Kamia Quiñones.)