Few seek cure for rare disease amyloidosis
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The race to untangle the mystery of amyloidosis, a rare blood disorder, has recruited both running fans and researchers in Pittsburgh. Despite the rally of support that followed the 1988 death of Richard S. Caliguiri from the disease, though, the research fund created in his name has had little impact on the effort to find a cure.
Mr. Caliguiri, the longtime Pittsburgh mayor for whom Sunday's Great Race is named, was 56 when he died. The race is now in its 35th year and since 2003 has been the principal source of funding for the Richard S. Caliguiri Amyloidosis Research Fund, created by his widow, Jeanne.
A dollar from each entry fee goes to the fund managed by the Pittsburgh Foundation, now with a balance of more than $1.6 million. The total contributed from the race since 2007 is $63,276.
But because the disease is rare -- only between 1,200 and 3,000 cases are diagnosed in the U.S. each year -- there are few researchers. And because the fund is restricted to local research, it hasn't been available to major research organizations elsewhere.
"There's no progress to report [in finding a cure], I'm sorry to say," said Ms. Caliguiri, who is retiring this year as director of development for the Leukemia & Lymphoma Society. "Maybe that's partly my fault. When I set up this fund, I insisted that the money be spent here locally." She said she didn't plan to change the terms of the fund.
Amyloidosis is the buildup of an abnormal protein that forms deposits in the body's organs and tissues and can interfere with organ functions. The disorder is most likely to be life-threatening if the amyloids accumulate in the heart or the kidneys. It can occur by itself, or as the result of another illness. There is also an inherited form of the disease.
Primary amyloidosis is related to excess production of antibodies by plasma cells, but its cause is unknown.
Because there are so few amyloidosis researchers, they are in high demand. Suzanne Lentzsch was the only Western Pennsylvania doctor the Amyloidosis Foundation recommended on its website. But in May, Dr. Lentzsch left UPMC for Columbia University.
"This happens all the time here," said Roy Smith, hematologist and medical oncologist at UPMC's Hillman Cancer Center. "We get some really great people here. But as they become more accomplished, every large institution wants them on their team."
Some Caliguiri-funded UPMC research has focused on early diagnosis and new tests for detecting the disease.
"Amyloidosis is sufficiently uncommon that primary care physicians may not recognize when and how to test for this disease," the Amyloidosis Foundation says.
Symptoms include fatigue, shortness of breath, weight loss, lack of appetite, numbness, tingling, weakness, enlarged tongue and swelling. A tissue biopsy is the only way to tell if a patient is suffering from amyloidosis and not from some more common and less serious ailment with the same symptoms. When the tissue specimen is coated with a dye called Congo red stain, the presence of abnormal proteins can be detected.
UPMC is using money from the Caliguiri fund to find better, less invasive means of detecting amyloidosis in patients with inflammatory arthritis. UPMC officials could not provide details on earlier projects.
"Our long-term goal is to develop approaches to diagnose amyloidosis non-invasively via gene expression profiling [DNA]," said Larry Moreland, chief of UPMC's Division of Rheumatology and Immunology.
The research project will continue for another year, Dr. Moreland said. Patients interested in the study can call its clinical research coordinator at 412-648-9413.
Srinivas Murali, director of the Division of Cardiovascular Medicine at Allegheny General Hospital, is planning a clinical trial of a new drug for familial amyloidosis. His research does not receive Caliguiri money.
In the 1990s, the Boston University Medical Center and the Mayo Clinic in Rochester, Minn., pioneered the use of stem cell transplants to stop the spread of primary amyloidosis.
A study of 421 patients who received stem cell transplants between 1994 and 2008 indicated they lived an average of 8.3 years after the transplant -- about four times longer than those who didn't have transplants.
UPMC has performed 24 stem cell transplants on amyloidosis patients since April 2002, the most recent in May. The hospital said federal privacy rules forbid it from disclosing how these patients are doing.
Amyloidosis isn't a cancer, but it is very similar to multiple myeloma, a cancer that starts in the plasma cells in bone marrow. So, though UPMC doesn't currently have a research program targeted directly at amyloidosis, the research being done at Hillman on blood cancers should benefit amyloidosis sufferers, too, Dr. Smith said. About 20,000 people are diagnosed each year with multiple myeloma.
Jeanne Caliguiri said research is key: "When they find a cure for blood cancer, they'll find a cure for amyloidosis."
Responding to an email question asking if the family is considering a change in the fund to support work done by out-of-town researchers, Ms. Caliguiri wrote, "Because of my husband's love for the city and the excellent hospital and educational resources, we ultimately would like to continue the research here in Pittsburgh."
She added that her family hopes to work with researchers at the Mario Lemieux Center for Blood Diseases, set to open in January at UPMC's Hillman Cancer Center.
"We feel Mario Lemieux Center will be a great opportunity to fund a local researcher."
First Published September 29, 2012 12:00 am