Amyloidosis

amyloidosis

It was not so long ago that a diagnosis of systemic amyloidosis was a death sentence. The systemic amyloidoses include acquired bone marrow disorders, hereditary disorders, and secondary diseases. In each of these, a protein circulating in the bloodstream misfolds and deposits in organs of the body, leading to heart, kidney, or liver failure or diseases of the nervous system or digestive tract. The most rapidly progressive form is the AL or immunoglobulin light chain form, a bone marrow plasma cell disease. Patients with AL amyloidosis were usually expected to die from their disease within a year or two of their diagnosis.

However, in 1994, physicians at Boston University School of Medicine’s Amyloid Treatment and Research Program pioneered the use of high dose chemotherapy and autologous (self) bone marrow transplantation for treatment of AL amyloidosis. Doctors succeeded in eradicating abnormal plasma cells and replacing them with healthy bone marrow cells from the same patient. That first patient is still alive today. In the years since, more than 400 patients have come to Boston Medical Center to receive this potentially lifesaving procedure.

“Things are different than they were twenty years ago,” says Amyloidosis Center Director David C. Seldin, a professor of medicine and microbiology. “Survival is dramatically better today for patients who receive a timely diagnosis, but for many it’s still a terrible disease. We have come a long way, but additional research is badly needed.”

The Amyloidosis Center at Boston University School of Medicine is an internationally recognized center of excellence, and a global resource for doctors, researchers, patients, and families.

Stem cell transplantation is one of many approaches by which researchers in the program are attacking amyloidosis. Promising new drugs, that disrupt the pathways by which the amyloid fibrils develop, are being tested. Researchers are devising therapies that slow the disease’s progress and limit its damage. The stem cell transplant procedure, which is used in conjunction with chemotherapy, is being constantly refined. And investigators are identifying biomarkers of amyloidosis—an area of research that could allow earlier diagnosis of a disease in which prompt treatment is crucial. Other researchers are delving into the basic science underlying amyloidosis, studying the proteins themselves.

Top scientists come to the program to learn from our experienced research teams. The Center’s reference laboratory tests tissue samples sent from medical facilities around the world. Doctors from the program travel widely to educate medical professionals about this under-diagnosed disease. And program staff answer questions daily from physicians, scientists, patients, and families.

About 700 patients a year come to Boston University and Boston Medical Center from all over the world for evaluation and treatment. Also, the program runs support groups that allow individuals who are fighting this rare disease to make personal connections with other patients and to learn from researchers.

“It’s a great relief for patients with such a rare disease and their care-givers to know that they are not alone,” Dr. Seldin says.

Fifty years of discoveries

The Amyloidosis Center at Boston University School of Medicine began in the early 1960s, when Dr. Alan S. Cohen, a specialist in rheumatology, began to study the disease. Although amyloidosis had been identified a century earlier by a pathologist in Germany, little was known about its causes until Dr. Cohen, now retired, identified amyloid proteins using an electron microscope.

“The realization that amyloid proteins have a unique structure allowed us to purify the proteins, then we and other groups started identifying them,” said Professor of Medicine Martha Skinner, director of the program from 1990 to 2007.

The Amyloid Treatment and Research Program’s clinical program began in 1970. In its 50-year history, the program (now center) has had only three directors—Doctors Cohen, Skinner, and Seldin. Under their leadership, the program has risen to become a leading center of pioneering research and an international resource on amyloidosis.

Research at the Amyloidosis Center is funded with support from the National Institutes of Health, the Food and Drug Administration, private foundations, and individual donors, many of whom have been treated by the program’s clinicians.

Between 3,000 and 5,000 cases of amyloidosis are diagnosed annually in the United States. Amyloidosis is no less deadly than cancer or heart disease. But because amyloidosis is rare, research into the disease gets far less support from government programs and major foundations than research into better-known diseases. Philanthropic support is essential to continued progress toward more effective treatment and diagnosis and eventually a cure.

Sample giving opportunities

  • Create and name an endowed professorship for the faculty of the program: $1.25 million for an assistant professor, $2.5 million for a full professor
  • Endow a research fund: $100,000
  • Endow a scholarship for a BUSM student: $100,000
  • Endow a postdoctoral fellowship: $100,000
  • Create a current-use fellowship award: $10,000
  • Provide unrestricted support as a member of the BUSM Dean’s Club: $1,500 and above