Teen boy first in Michigan to get gene editing treatment for blood disorder
Children's Hospital of Michigan announced Monday that it now is treating the first person in Michigan — a teenage boy — with a newly approved gene-editing therapy for the rare inherited blood disorder known as beta thalassemia .
Called Zynteglo , the treatment will essentially rewrite the genetic code of a portion of the boy's own stem cells so that his bone marrow can begin to make healthy hemoglobin, the component of red blood cells that carries oxygen.
The boy, who lives in Michigan but does not want to be identified, has needed blood transfusions every three to four weeks of his life because his body doesn't produce healthy hemoglobin, said Dr. Sureyya Savasan, medical director of the Transplant and Cell Therapy Program.
Those transfusions over time can cause iron to build up within organs such as the liver, lungs and heart and can cause damage severe enough to affect his overall health and life expectancy.
"We are truly excited today (to be) offering this life-changing treatment for our thalassemia patients at the Children's Hospital of Michigan," Savasan said, adding that it's just the first of two breakthrough gene-editing treatments for blood disorders available at the Detroit hospital.
Its physicians also plan before the end of the year to use a newly approved gene-editing therapy to, for the first time, treat a Michigan person with sickle cell disease using another Lyfgenia or lovo-cel, which was approved in December by the U.S. Food and Drug Administration.
Savasan called the medical advances "a monumental achievement in gene therapy for blood disorders — transfusion dependent thalassemia and sickle cell disease. Both are characterized by chronic anemia and lifelong implications."
Monday's announcement was a full-circle moment for the Detroit hospital, said Savasan, because thalassemia was first identified in 1925 by one of its physicians, Dr. Thomas Benton Cooley , a pioneer in hematology. And for a while, the disease carried Cooley's name, and called Cooley's Anemia.
'There is a treatment for you now'
For many of the families whose children suffer from these blood diseases, the medical advances have been a long time coming, said Liz Smythe, a bone marrow transplant nurse coordinator at Children's Hospital.
She recalled working with the boy with thalassemia and his family nearly a decade ago, when they first considered whether he might be eligible for a bone marrow transplant to treat the disorder.
"I remember having to call the mom and say, 'We don't have a donor for you,' " she said, a devestating blow knowing that it meant her son would have to continue with at least monthly blood transfusions for the disease, which affects about two dozen people in the state and roughly 1,500 nationally — mostly people of Mediterranean descent.
"To be able to say to these families, 'There is a treatment for you now,' and to be able to give this to them, it's really been profound."
In May 2023, Smythe and the medical team at Children's Hospital began talking with the family about the gene therapy Zyteglo, which is made by Texas-based biotech company bluebird bio.
"You can imagine our joy and excitement," she said. "We were finally able to begin discussing the possibility of alleviating his need for blood transfusions. In September of 2023, the parents consented to the therapy, and we were able to undergo the initial process of obtaining insurance approval."
It was a complex process that took several months, Smythe said. The cost of the gene-editing treatment is about $2.8 million, which doesn't include the cost of the transplant, which Savasan said could add another $150,000-$200,000 to the final bill.
Eventually, though, the boy's insurance plan agreed to cover the costs.
"They did a cost analysis, and it actually ended up being a cheaper alternative to providing him with a lifetime of blood transfusions and care," Smythe said. "And think of the quality of life he'll be able to have. He'll be able to have a job and have work. All of those things are so important."
A potential cure for blood disorders
The boy's treatment began in July, when his stem cells were collected from his body through a process called apheresis, said Dr. Eman Al-Antary, a pediatric bone marrow transplant physician at Children's Hospital.
His blood was drawn from a catheter in his vein and run through a centrifuge to separate out the stem cells. The stem cells were then sent to bluebird bio for gene editing. That processes, Al-Antary said, takes about 90 days.
When the editing process is complete, the reengineered stem cells will be returned to Children's Hospital, where the boy then will undergo four days of intense chemotherapy to wipe out his immune system. Then, the genetically modified stem cells will be returned to his body through a central catheter line, she said.
If the procedure is successful, his body will begin making its own healthy hemoglobin, and he will no longer need blood transfusions. The treatment, the doctors said, is potentially curative, though they noted that it's too new to definitevely call it a cure for thalassemia.
Gene editing offers hope for sickle cell disease, too
A similar process will be used to treat people with sickle cell disease, said Dr. Alexander Glaros, medical director of the Comprehensive Sickle Cell Center at Children's, which treats between 800 and 900 children and young adults with sickle cell.
"We have had our first patient start the process of moving towards a stem cell collection and ultimately infusion to potentially be cured of his sickle cell disease," Glaros said.
The patient, he said, has been treated at Children's for 20 years and also couldn't find a suitable match for a bone marrow transplant.
"When I told him about the approval that came through for gene therapy, he had tears in his eyes, and I had tears in my eyes," Glaros said. "He said, 'I want this now,' and so I'm very excited that we're finally to the point where we're moving forward, and ... able to offer this to him here at home."
Sickle cell disease affects about 100,000 Americans and affects the shape of red blood cells, making them crescent or sickle shaped. The misshapen cells can cluster together and get stuck in blood vessels, impairing their ability to carry oxygen. The disease can cause strokes, organ damage, severe pain and early death.
"Sickle cell disease ... affects every single organ in the body and has the potential to do very severe damage throughout the body," Glaros said. It is most prevalent among people of African descent, occurring in 1 in every 365 births among Black Americans , according to the U.S. Centers for Disease Control and Prevention, and about 1 in every 16,300 Hispanic American births.
Through gene editing, Lyfgenia alters a patient's own stem cells, allowing the body to make healthy, round red blood cells rather than sticky, sickle-shaped cells by adding a functional beta hemoglobin gene using a virus as a carrier.
The hope, Smythe said, is that the hospital will be able to speed up the process and begin treating more patients more quickly.
"We have about eight patients that are in the insurance approval process," she said, for gene therapy treatments for thalassemia and sickle cell disease. " It's it's something that we do expect to grow. ... We would have the capacity to do it."
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