Research Updates

Consumer Panel Responds to Latest hemophilia Research

Men affected by hemophilia and von Willebrand disease speak at NHF workshop By Melanie Padgett Powers | 06.28.2010

Scientific literature and terms such as "viral vectors" and "tissue factor pathway inhibitor" can be intimidating, even to people with bleeding disorders and their families. Not so for three consumers selected to attend the National Hemophilia Foundation's (NHF's) 10th Workshop on Novel Technologies and Gene Transfer for Hemophilia at the University of North Carolina at Chapel Hill, February 5–6, 2010. Two of them are working on PhDs in science fields and one is a medical student.

"Having a science background definitely helped," says Brian Psciuk, whose 2-year-old son, Landon, has severe hemophilia A. "I'm used to reading scientific literature." Psciuk is midway through his PhD program in physical chemistry at Wayne State University in Detroit. The other PhD student is Brent Winslow of Salt Lake City, who has mild von Willebrand disease and is finishing his PhD in bioengineering. The third panelist, Matthew Wofford, is a first-year medical student at the University of North Carolina (UNC) at Chapel Hill and has severe hemophilia A.

The biennial conference brings together the world's hemophilia experts to share and discuss breakthroughs in bleeding and clotting disorders research and technology. The three consumers attended sessions throughout the two-day conference, capping off the workshop with a panel discussion for the audience of researchers and clinicians.

Wide Range of Research

The three men listened to scientists discuss their latest research in areas such as longer-lasting and faster-acting recombinant factor products, bypassing agents that allow people with inhibitors to receive treatment and oral treatments that would replace infusions. "I was impressed with the breadth of the topics discussed," Wofford says. "That, along with the fact many of these approaches have been demonstrated effective in animal models, made me very optimistic that some of these novel treatments will be working their way into trials and, hopefully, clinics before too much longer."

The panelists are interested in the potential of gene therapy replacing defective genes–such as those that cause hemophilia–with healthy ones. Several studies are attempting to find the most effective way to insert genes into the body, whether through stem cell transplantation, viral vectors (using a non-infective viruses to transport healthy genes into the body) or some other method. "I have a lot of hope for gene therapy," Winslow says. "It has huge potential not just for bleeding disorders, but for many other disorders. I could envision gene therapy as a cure for hemophilia."

Psciuk was intrigued by the idea of developing a virus to infiltrate cells with healthy genes. "I hadn't been exposed to viral vectors in the past. Getting some of the details on this research was fascinating–that they're actually able to do gene therapy in this way."

During the consumer panel at the end of the conference, the panelists shared their stories about living with bleeding disorders and answered audience questions. Psciuk says researchers didn't need to be reminded that their scientific work could someday help people with bleeding disorders. "It was very apparent that everybody there was extremely concerned, not just about their research, but about the people this affects," he says. "Never once did I feel that everybody was treating this too objectively. There was a genuine feeling of concern for patients and their families."

Wofford stressed the importance of safety in medicine and protecting the blood supply. He's sensitive to the issues after contracting hepatitis C as a child through a contaminated transfusion. Following six months of interferon and ribavirin therapy during his senior year of high school, Wofford, now 22, has been clear of hepatitis for five years.

"What happened back in the '80s with contaminated blood products was a real tragedy," Wofford says. "Nobody wants something like that to get repeated. I got the sense that the researchers are really being cognizant of safety as they work to develop new treatments." He was reassured when one of the researchers told him that scientists should always ask themselves, "Is this therapy something I;d be willing to try on my own son?"

The three panelists are still considering where their science careers may take them. Winslow, the soon-to-be bioengineer, hasn't decided whether to take a position in industry or academia. Among other things, bioengineers create medical devices, he explains. "Nearly everything in the hospital passes through the hands of a bioengineer at some point."

Wofford has three more years of medical school, then residency. He hasn't decided on an area of medicine yet either, although many people have asked him, "Are you going to be a hematologist?"

Psciuk, the physical chemistry PhD student, is investigating whether he can use his area of expertise in a hemophilia research project. "A lot of it has to do with the different sizes of the systems. Dealing with the human body and large proteins is a very large system; sometimes I will look at systems with only five atoms, something very tiny in comparison."

Psciuk will also be learning more about hemophilia on the home front. His son was diagnosed with hemophilia two days after he was born, with no family history. "Because my son is so young, I'm still very much wet behind the ears as far as hemophilia." The conference allowed Psciuk to ask the bleeding disorders community about ports, infusions, prophylaxis and insurance. "I can't say enough about the workshop. It was truly an amazing experience."

Originally published June 2010, HemAware.org, an online publication of the National Hemophilia Foundation.

The Oldest American with an Inhibitor

By Kerry Fatula

Hemophilia and inhibitors are complex conditions and stories of misdiagnosis and mismanagement are familiar. But fortunately, such stories are far less common than they once were.

Perry Stone, 87, has mild to moderate hemophilia A. And he thinks he may be the oldest living American known to have an inhibitor. Recently, Perry told me the story of how he handled “mysterious bleeding” until the diagnosis was finally made.

Perry was born in 1923 in Chicago, to immigrant parents. His Russian mother and Romanian father had no known family history of hemophilia and Perry was the only one of their five children to experience mysterious, prolonged bleeding. In his early childhood, Perry commonly had nosebleeds that came unexpectedly and wouldn’t stop. Doctors had no explanation and cold compresses were the only treatment. Perry can recall no joint bleeds during his early years. He was active in school, playing baseball and basketball with no difficulty aside from the nosebleeds.

When he finished school, Perry joined the army and served more than three years during World War II. He continued to suffer from nosebleeds, but the military doctors could find no explanation. In 1943 Perry married and he and his wife Betty had two daughters. Returning to civilian life in 1946, he began working in the insurance industry.

For most of his life, Perry’s undiagnosed hemophilia had presented few problems, but as he got older, things changed. In 1966, at age 43, Perry began to experience spontaneous bleeding into the thigh muscles of both legs. The bleeding kept him from working and led to a week-long hospital stay. Doctors still had no explanation and did not test Perry for hemophilia. Instead, they treated Perry with vitamin K injections. When the bleeding subsided two weeks later, doctors mistakenly credited vitamin K as an effective treatment.

In 1974, at age 51, Perry suffered a heart attack. After receiving an arteriogram, the arm used to insert the intravenous catheter developed a baseball-sized hematoma that wouldn’t heal. Yet doctors still ran no tests to look for a bleeding disorder.

A year later, when Perry had a tooth extracted and bled for nearly a month, his physician suspected von Willebrand disease and finally ordered a blood test. When the lab results came back, the diagnosis was hemophilia A.
Perry was lucky to finally have received a diagnosis, because in 1979 he needed all of his teeth extracted. The Veterans’ Administration hospital in charge of the procedure called in two dental surgeons, recalls Perry, and “ordered a lot of bags of cryoprecipitate to prepare for any complications.” The surgery was a success.

In 1992 Perry began bleeding into his knee joints. For the first time, he received factor VIII concentrate and his recovery was short and successful.

Perry underwent a laser surgical procedure in 2005 to remove part of his prostate. Following the procedure, to treat his severe bleeding, Perry was transferred to a different hospital where he received factor VIII concentrate. When the bleeding began to subside, Perry was sent home.

During his recovery, Perry began bleeding again. His local hospital didn’t carry factor concentrates and was unfamiliar with hemophilia treatment, so Perry was transported to the Hemophilia Treatment Center (HTC) at Munson Medical Center in northern Michigan. But this time, factor VIII concentrate didn’t stop the bleeding. A Bethesda Inhibitor Assay confirmed the hematologists’ suspicions: Perry had an inhibitor! His treatment was switched to a bypassing agent, a specialized clotting factor product used in patients with inhibitors. Perry’s bleeding was finally under control and he went home with a follow-up treatment plan and home nursing regimen.

Today, Perry keeps his bypassing agent at home and calls a home nurse if he needs treatment. But the inhibitor doesn’t slow him down much, even at his age. Perry credits his survival and quality of life to a positive attitude, healthy eating, exercise — and of course, factor. “I don’t let anything get me down!” he says. “If I’ve got to go somewhere, I go. If I can’t go, I don’t go!”

Today, Perry lives on beautiful Drummond Island, Michigan. Betty has passed away, so he now lives alone. But he enjoys spending time on his computer, visiting casinos, going on cruises and staying with his daughter in Phoenix.
Perry told me how fortunate he feels to have escaped viral transmissions, considering the amount cryoprecipitate and blood that he received during his early years of treatment. And he’s grateful that although his daughters are carriers, none of his grandchildren has inherited hemophilia.

Thanks to the evolution of HTCs during Perry’s long lifetime and advanced treatments with bypassing agents, Perry may just be the oldest living person with an inhibitor — an amazing accomplishment for an inspiring man.
Kerry Fatula is Executive Director of the Western Pennsylvania Chapter, National Hemophilia Foundation. She is also the mother of four boys, three with severe hemophilia A and inhibitors.

Reprinted with permission from the Parent Empowerment Newsletter (PEN). © LA Kelley Communications, 2010. www.kelleycom.com. All rights reserved.