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Nebraska Medicine Administers Novel Gene Therapy To First Hemophilia Patient

After more than four decades of infusing himself with the blood clotting factor his body can't make, Chad Stevens decided it was time to try something new.

Chad Stevens traveled from his home in eastern Idaho in mid-October for an infusion with a gene therapy for hemophilia B at the Nebraska Medical Center. Here, he is overseen by Sarah Steffes, infusion staff nurse lead. The aim is to allow his body to produce enough of the blood clotting factor it can't make now to reduce his need to infuse it.

TAYLOR WILSON, NEBRASKA MEDICINE

Stevens, 63, suffers from hemophilia B, a bleeding disorder caused by a genetic mutation that affects production of a type of protein known as factor 9. Over the years, bleeds have damaged his joints. His ankles have been fused, his knees and elbows have severe damage. And successfully hitting a vein to infuse himself as he got older wasn't getting any easier.

In mid-October, Stevens traveled from his home town of Newdale, Idaho, to Omaha's Nebraska Medical Center, where he became the hospital's first patient to receive the first gene therapy approved for his condition.

Called Hemgenix, the therapy doesn't fix the damaged gene. Instead, a modified virus delivers the working gene to the liver, providing the instructions his body needs to make the factor on its own. The medical center is the first hospital in the region to become an administration site for the therapy, according to drug-maker CSL Behring.

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Since then, Stevens hasn't had any bleeds or needed to infuse clotting factor. He said he hopes the therapy will provide enough to take him from severe hemophilia to a milder version that might require infusions only for a severe trauma or surgery.

"That's really promising," Stevens said. "I hate to get too excited about it, because you never know what's going to happen. But I'm quite thrilled with it."

So is Dr. Alex Nester, a hematologist with Nebraska Medicine who specializes in benign or non-cancerous blood conditions, including bleeding disorders and sickle cell disease.

"It's incredible," he said. "It's (been) a dream in the hemophilia community for 20-plus years."

The treatment, approved by the Food and Drug Administration in 2022, is one of a number of gene therapies that have trickled out in recent years for a variety of genetic conditions. The FDA approved a separate gene therapy for hemophilia A last year. The agency also has approved two gene therapies for sickle cell disease, another inherited blood disorder that causes red blood cells to become misshapen, block blood flow and cause painful episodes.

Kim Phelan, CEO of The Coalition for Hemophilia B, said the lasting advantages of the gene therapy include reduced joint damage, fewer hospitalizations and a better quality of life for people with hemophilia.

An estimated 7,000 people in the U.S. Have hemophilia B, and approximately 17,000 have hemophilia A, which involves a different blood clotting factor.

"After more than 25 years of anticipation and hope, individuals with hemophilia now have access to a groundbreaking therapy that offers the potential for greater independence and a more normalized life," she said.

Gene therapy at Nebraska Medicine

At Nebraska Medicine, the addition of the gene therapy builds on the work of the team involved in bone marrow transplants and cellular therapies, including CAR-T, or chimeric antigen receptor T-cell therapy. That treatment involves removing patients' immune cells from their bodies and genetically engineering them to recognize and attack their cancer.

Chad Stevens, left, of Newdale, Idaho, speaks with Dr. Alex Nester, a hematologist with Nebraska Medicine. Stevens traveled to the Nebraska Medical Center in mid-October to receive a gene therapy for hemophilia B. Since then, he has suffered no bleeds and has not had to use the clotting factor he has routinely infused to prevent bleeding.

TAYLOR WILSON, NEBRASKA MEDICINE

Dr. Matthew Lunning, medical director of gene and cellular therapy at Nebraska Medicine, said earlier this fall that the team has used CAR-T to treat hundreds of lymphoma and leukemia patients since the late 2010s.

Earlier this year, he and his team used CAR-T for the first time to treat an Omaha woman with lupus, an autoimmune disease, as part of a multi-site clinical trial. He credited Nebraska Medicine's leaders for making the investment required to offer such ground-breaking therapies.

Still, gene therapies, according to news reports, have been somewhat slow to catch on. In the case of hemophilia, Nester said he suspects that may be a result of the complex modern history of the condition.

By the 1980s, he said, hemophilia patients who suffered trauma were given a concentrated form of the missing proteins when they needed help getting their blood to clot. But many contracted infections such as HIV and hepatitis C from contaminated blood products, which killed thousands of those with severe disease. Later, the products were purified but still were reserved for cases of active bleeding. As a result, older patients like Stevens suffered significant joint damage.

In the 1990s, researchers began producing a recombinant version of the missing proteins in hamster cells, similar to the way insulin is made. Children diagnosed with hemophilia could dose themselves with clotting factors to prevent bleeds, he said. That resulted in a generation with no bleeding episodes for years at a time and without the joint damage suffered by older patients.

"You don't need a lot of these factors to live a pretty normal life," said Nester, also an assistant professor of medicine in UNMC's oncology and hematology division.

Chad Stevens of Newdale, Idaho, is infused with a gene therapy for hemophilia B at the Nebraska Medical Center in mid-October.

TAYLOR WILSON, NEBRASKA MEDICINE

That also means younger patients may have less interest for now in a more permanent solution, he said. Some also may be holding off for newer versions of the gene therapy that are in the pipeline.

Stevens said his parents, on the other hand, were told he probably wouldn't survive his teens. Between his mother and her three sisters, three had children with hemophilia, a total of seven. He was the youngest. He is now the sole survivor. Several died from bleeds and a couple died of complications of AIDs due to the contaminated clotting factor relied on at the time.

"It took a big toll on the hemophilia community," he said. "It just decimated it, really. So us older ones are pretty lucky to have survived all of that."

Issues with earlier blood products, however, also have made older patients skeptical about new treatments. "We like to wait and see how the products are doing out there before you jump on it," he said.

Cost of treatment can run into the millions

Patients also have to weigh the cost. The price for the one-time treatment reportedly was set at $3.5 million.

A spokesperson for CSL Behring said the company has seen an acceleration in the number of people being infused with the therapy since its approval, which the company attributes to its outreach to patients and work with insurers. Some 90% now cover the therapy, and the company also offers a program to help patients with copays. She declined to say, however, how many patients have received the therapy.

But Nester said clotting factors also are costly. Depending on the patient, the source of their factor and their insurance, it may run a half a million dollars a year "to keep nothing from happening," he said.

Meanwhile, he said, researchers have seen that the majority of patients who have received the gene therapy are making 10% or more of the normal levels of the missing clotting factor even five years after being treated. That means their bodies are producing at least the preventative dose.

"Patients still may have a bleeding episode after twisting their ankle or maybe needing a dose before surgery," Nester said, "but, generally speaking, spontaneous bleeds or bleeds associated with minor trauma are gone."

Not every hemophilia patient will qualify for the treatment, however, he said. Patients can't have antibodies to either the virus or the factor they're missing.

Stevens said his infusions probably cost closer to three-quarters of a million dollars a year. So far, the cost of his gene therapy has been covered. Previously employed in banking in Boise, he retired and applied for Social Security disability benefits on the advice of his doctor after his pain and mobility issues had made it nearly impossible for him to get out of his chair at work.

He moved back to Newdale, population 325, in eastern Idaho. But he didn't like being on disability, because he wasn't giving back. He was elected to the City Council and appointed mayor, a post he continues to hold.

"It was just a pleasure to be contributing again," Stevens said.

Since receiving the therapy, he said, he seems to be moving a little better, and his knee isn't bothering him as much. Since the damage was done at an earlier age, he doesn't think the therapy will do much to repair it.

"But if we can keep it from getting any worse," Stevens said, "that's the goal."

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