The Pioneers Reunion

They were medical pioneers, a band of 12 volunteers who came from all corners to the National Institutes of Health to test an unproven drug for a mostly unknown disease.

The only thing they had in common was a glitch in their genetic code that caused their liver and spleen to enlarge, bones to fracture, platelet counts to plummet, skin to bruise, and a host of other health problems.

Today, all are living a better life thanks to the treatment they helped develop.

And earlier this year, nine of the original 12 participants in the pivotal trial for Ceredase reunited at Genzyme Center, reacquainting themselves with one another and reflecting on all of the ways their lives had changed since they first met almost 20 years ago.

The Origins of the Trial

Kevin Kline, 35 years old, who lives with his wife in New Jersey just across the Hudson River from Manhattan, was only 4 years old when he was first diagnosed with Type 1 Gaucher disease. When he reflects on growing up with Gaucher disease he repeatedly emphasizes how “incredibly lucky” he was to have grown up in New York under the care of a pediatrician who not only recognized Gaucher disease at the first signs, but was also an acquaintance of Dr. Roscoe Brady, the physician at NIH who was the world’s foremost expert on the disease.

Almost immediately upon diagnosis in the mid-1970s, Kevin’s mother Susan enrolled him in whatever experimental clinical programs existed, though none had an effect until the pivotal trial with Ceredase more than a decade later.

When he began the Ceredase study, Kevin and his mother took up residence in a small room on the ninth floor at NIH for a month at a time. There, he and 11 others underwent a series of regular infusions, surgeries, and biopsies that would lead to the approval of Ceredase and significant improvements in their health.

Connie Kreps, a research nurse at the NIH during the Ceredase trials and now a Patient Care Liaison (PCL) at Genzyme, remembers the courage of the patients and their families during the trial. “At the time, NIH was a place of last resort for patients with these types of diseases. Many of them were children, and at some point in their lives their parents had been told to take them home and let them die. The pioneers weren’t just the patients – the parents were pioneers too. The parents really pushed the issue, lobbying Congress and securing the necessary funding for research. Without them, the trial would never have happened.”

Jamie Seaver, now a 27-year-old college admissions director in Cincinnati, was 5 years old when she was diagnosed with Type 1 Gaucher disease. Her abdomen swelled to the extent that she could not wear normal clothes; her nose would bleed regularly; she could not eat without becoming nauseous. Told by doctors that Jamie would be dead within a few years, her parents refused to give up without a fight. Her mother, Valerie, took her to a number of different specialists to see if anyone had any idea on how to treat this little-known disease. Meanwhile, the local community rallied around Jamie to raise money for research and to save the child’s life.

By the time the family found Dr. Brady and the NIH trial in Bethesda, Maryland, Jamie had come to accept her fate. “My parents were very open about the disease with me, and never tried to hide the reality of my situation”, she said. “I was pretty much prepared to die, but I was always really happy. I couldn’t do a whole lot, but I tried my best to enjoy life.” Nine-year-old Jamie and her mother flew from Fort Wayne, Indiana to the NIH every other week to receive treatment.

Over the course of the Ceredase trial, things changed for its participants. Slowly but steadily, many of the patients’ symptoms began to subside. For the first time, patients had hope.

Jamie remembers. “I was feeling better, I could eat better, I could do more things. As my spleen returned to normal size, I could wear normal clothes for the first time. I began to participate in more activities.”

Says Kevin, “Participating in the trial changed my life. You take someone who is so sick and improve their health, it gives them a completely different outlook on life. You realize that every day is a blessing.”

A Beautiful Outcome

The reunion this year provided a joyful first opportunity for these pioneers – the patients, their families, and the medical staff who made Ceredase and, ultimately, Cerezyme® (imiglucerase for injection) a reality – to reconnect and consider the impact the treatment has had on their lives, and for the entire Gaucher community.
The event began with a dinner in Cambridge at which participants and their families gathered with the central medical figures of the trial, including Dr. Norman Barton, Dr. Roscoe Brady, Dr. Scott Furbish, Dr. John Barranger, and Connie Kreps, along with Genzyme CEO Henri Termeer.

Dr. Norman Barton directed the landmark study, and came to know the patients closely over the course of the trial. “It was an incredibly gratifying experience to see these individuals who participated in the trial as grown adults, with full lives and families of their own,” he said. “It made for a genuine feel-good moment, and gave us an opportunity to reflect on everything that came together to make this a success. It was lovely to see the human beings who were so critical in making it happen and the beautiful outcome of the trial.”

The following day, the group took a tour of the Allston Landing manufacturing facility where Genzyme produces Cerezyme and other enzyme replacement therapies. A focus group led by Genzyme PCL Connie Kreps gave the patients a chance to share their perspectives on what it has been like to be dependent on a life-long treatment and the issues they face in maintaining therapy.