Legends in the Halls: 25 Years of Treatment for Gaucher Patients

Brian Berman. Dr. Roscoe Brady. If you know anything about Sanofi Genzyme it’s likely you’ve not only heard these names, but you also understand that these names – these people – represent the basic nature for what our company stands for: Drive. Determination. Success. Hope.

Photos of Brian and Dr. Brady line our walls. Their stories are weaved deeply into our history. This might be a story many of us know well, but it never gets old; it’s a story worth repeating.

In June 2016, Dr. Roscoe Brady passed away at the age of 92. In recognition of his life and contributions to our company and to the Gaucher disease community, we tell this story in his honor, to remember our history and take what we have learned from the past to propel us into the future.

Roscoe Brady in the lab

Above Roscoe Brady, MD, conducted research at the National Institute of Health that led to the first treatment of Gaucher disease

The dawn of enzyme replacement therapy

After earning his doctorate from Harvard Medical School in 1947, Dr. Roscoe Brady would go on to conduct research leading to the first treatment for Gaucher disease.

Early in his career Dr. Brady developed an interest in researching lipid storage diseases. In 1954, he joined the National Institutes of Health (NIH) and began conducting original research exploring methods to detect carriers of hereditary diseases including Gaucher. He was especially interested in the role of glucose metabolism and was the first to identify the specific cause of Gaucher disease – a deficiency of an enzyme called glucocerebrosidase that breaks down a fatty material in the body. Without this enzyme, the fatty material called glucocerebroside collected in organs and tissues in the body, leading to severe clinical symptoms and, for many patients, early death.

Roscoe Brady with a child

Roscoe Brady

Dr. Brady considered a strategy to replace glucocerebrosidase in people living with Gaucher disease. It was the dawn of enzyme replacement therapy.

“We had an idea that we knew made sense, but we didn’t know if there was anything we could do about it,” Dr. Brady later reflected. Fortunately he found support at the NIH. After long periods without much progress, his scientific counselors said, “That’s alright Brady, just keep trying.” “I don’t know of any other place in the world that could have done that for me,” said Dr. Brady.

Eventually Dr. Brady identified glucocerebrosidase in human placental tissue. His NIH research team including Dr. Scott Furbish and Dr. John Barranger isolated the enzyme, purified it, and saw evidence that it was working in different models of Gaucher. Finally it was time to test enzyme replacement therapy in people living with the disease.

The first clinical trial
As a child, Brian Berman experienced chronic pain and had difficulty walking up stairs. He frequently missed school, could not play sports, and was significantly smaller in stature than his peers. He had to wear suspenders to hold up the oversized pants needed to fit over his large abdomen.

As a child, Brian Berman experienced chronic pain and had difficulty walking up stairs. He frequently missed school, could not play sports, and was significantly smaller in stature than his peers. He had to wear suspenders to hold up the oversized pants needed to fit over his large abdomen. “I was small for my age and my abdomen was severely swollen,” said Brian. “It was difficult being so different and not fitting in.”

In an attempt to find the cause of his symptoms, in 1983, at the age of three, Brian underwent bone marrow testing. Results confirmed he had Gaucher disease.

With a diagnosis in hand, Brian’s parents asked about treatment options, only to learn that there was nothing available. Worse yet, information about the disease was scarce. Brian recalls, “After my diagnosis the doctors told my parents to take me home. They said there was nothing that could be done.” But Brian’s mother – Dr. Robin Berman - learned that the National Institutes of Health (NIH) was working on a potential treatment for Gaucher disease. It was then that Dr. Berman left her medical practice to volunteer at the NIH and pleaded with Dr. Brady to let Brian participate in the trial. Her efforts paid off.

In 1984, Brian became one of the first people living with Gaucher disease to be treated with enzyme replacement therapy in a clinical trial.

“It was a blur of test after test…MRIs to bone marrow biopsies,” remembers Brian, who was just four years old at the time. “But I never felt scared. People around me did a great job of making me feel comfortable.”

Brian was the only child in the landmark clinical trial that included eight patients. Brian’s treatment team saw hope that enzyme replacement therapy could be a successful therapeutic option for Gaucher disease.

“I didn’t realize the significance until I was 13 or 14 years old,” said Brian. “In large part, because of my experience and the help I received, appreciation is a central theme of my life. My role now is to give back to the community.”

Brian Berman at the Allston manufacturing facility

Above, Brian Berman, diagnosed with Gaucher disease in 1983, was one of the first people treated with enzyme replacement therapy.

One patient, one company

Genzyme was confident it could build a company based on the promise of the NIH trial. But the trial results raised many questions, namely, only one participant – Brian Berman – had shown significant improvements. Critics were staunch, stating that the disease was too rare and the doctors were too unfamiliar with Gaucher. But Genzyme forged on. Then President and CEO, Henri Termeer stated “For me, treating one patient successfully is a tremendous victory.”

In 1986 Termeer reached out to investors to support the clinical research. He needed $10 million. On a trip to Albany, New York, to meet the potential investors, Termeer brought along Brian’s mother, Dr. Robin Berman. Dr. Berman helped the investors understand the opportunity that enzyme replacement therapy presented. She had a profound impact. “The way she expressed herself…they suddenly got it,” recalled Termeer. “They were so inspired that they called different contacts from around the country and we raised the money we needed in two weeks.”

Today, Brian Berman is in his thirties and is a successful businessman, husband and father. In 2011, Brian was appointed the President of the National Gaucher Foundation’s Board of Directors. He believes having this role is his way to give back to the Gaucher community.

Dr. Brady’s work did not end with Gaucher disease. His efforts also led to the treatment of another lysosomal storage disorder and, today, thousands of patients around the world have been treated with enzyme replacement therapies, in large part, due to his pioneering work. Dr. Brady was the recipient of numerous honors including the Lasker Foundation Award, the Kovalenko Medal, the Alpert Foundation Prize, and the National Medal of Technology and Innovation. He was a member of the National Academy of Sciences and the National Academy of Medicine. Dr. Brady passed away on June 13, 2016.

Looking ahead

We never stop looking forward. Whether it is through collaborations with scientists, doctors, government agencies, or the patients themselves, these partnerships support our ultimate goal: Bettering the lives of patients with rare diseases by offering sustainable, transformative healthcare options.

“We are proud to have collaborated with the Gaucher community for over 25 years and maintain our pledge to continue to work together to advance Gaucher care,” said Richard Peters, Sanofi Genzyme Global Head of Rare Disease. “As we look to the future, we will remain focused on empowering the lives of patients with Gaucher disease through comprehensive disease awareness, diagnostic efforts, patient services and treatment options.”

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