Miracle at Work
BY MEAGHAN CASEY
When Bud Pickard, a dairy farmer in upstate New York, started to feel rundown and achy six years ago, he attributed it to the demands of his job. He was working 12 to 16 hours a day, and physical pains were not out of the ordinary.
But when his physician suggested a total body scan, the results suggested bone cancer—not the diagnosis Pickard wanted to hear just 10 days before Christmas. He was referred to an oncologist for a second opinion and that eventually brought him to Dr. Daniel DeAngelo, Clinical Director of Adult Leukemia Services in the Center for Hematologic Oncology at Dana-Farber Cancer Institute.
DeAngelo ordered a bone marrow biopsy, which revealed the dense accumulation of mast cells—immune cells that produce a variety of mediators, such as histamine, that are important in the body’s allergic responses. Though Pickard’s bones were strong, he had lost 60 percent of his bone marrow. He was then diagnosed with systemic mastocytosis, a disorder in which mast cells are abnormally increased in multiple organs including the bone marrow, skin, gastrointestinal tract, liver and spleen. By this time, Pickard was feeling bloated, had lost weight and both his liver and spleen were enlarged.
Fortunately, DeAngelo had teamed up with Dr. Cem Akin, an allergist and immunologist who leads the Mastocytosis Center at Brigham and Women’s Hospital, a first-of-its-kind center that provides expert multidisciplinary evaluation and treatment for patients from across the country.
“Many cases of mastocytosis are missed, especially early in the disease, leading to a delay in critical treatment,” said Akin.
DeAngelo was the lead investigator on a clinical trial of midostaurin, an investigational therapy designed to inhibit multiple kinases, including one triggered by a genetic mutation found in most patients with systemic mastocytosis.
Pickard began taking midostaurin in March 2013 and has had success with the drug. His liver and spleen have returned to normal and he has had no side effects.
While stories like Pickard’s show the promise of new targeted therapies in development, the unmet need for systemic mastocytosis, particularly for patients with aggressive disease, remains high. There are still no approved therapies to target the mutated gene found in more than 94 percent of systemic mastocytosis patients. In aggressive cases, the disease compromises organ function and average survival is only three to five years from the time of diagnosis.
Cambridge-based Blueprint Medicines is developing a highly targeted drug for those patients. In September 2015, the company received FDA approval to begin a Phase 1 clinical trial of the drug, called BLU-285, for the treatment of advanced systemic mastocytosis and expects to enroll approximately 60 patients with advanced systemic mastocytosis in the clinical trial.
“BLU-285 is a potent and selective inhibitor of the KIT D816V mutation, the primary driver of disease in more than 94 percent of systemic mastocytosis patients,” said Jeffrey Albers, CEO of Blueprint Medicines. “We’re thrilled to be advancing this drug into clinical trials. All of us at Blueprint Medicines are motivated by the goal of making a difference for patients. We aim to do that by using our deep understanding of the genetic blueprint of cancer and other diseases driven by the abnormal activation of kinases to craft highly selective medicines.”
Pickard, now 73, is in the process of moving to Paxton, Mass. He has been living in Fonda, N.Y. since 1989, maintaining his farm. He is the father of four and credits the support of his wife, Cynthia, and children for helping him through the worst of the disease. Since his diagnosis, he has returned to Boston every three months and is looking forward to a closer commute to the hospitals. “I can’t say enough about the doctors in Boston,” Pickard said. “I’ve been so fortunate to have had their care.”