Ann Peel gave her testimony on amyloidosis to the House and Senate Appropriations Committees on April 26th, 2018. The testimony seeks support for Amyloidosis programs from Congress in the fiscal year 2019 Labor, Health Services and Education Appropriations bill. Please see her complete statement below.
We are very grateful to Ann and Terry Peel for their dedication to bringing an awareness of the need for research on Amyloidosis to Congress and the NIH.
STATEMENT ON AMYLOIDOSIS
ANN D. PEEL
PRIVATE CITIZEN, BETHESDA, MARYLAND
SUBCOMMITTEE ON LABOR, HEALTH AND HUMAN SERVICES,
EDUCATION AND RELATED AGENCIES
COMMITTEE ON APPROPRIATIONS
UNITED STATES SENATE
HEALTH AND HUMAN SERVICES
NATIONAL INSTITUTES OF HEALTH
APRIL 26, 2018
Amyloidosis is a rare and often fatal disease. I ask that you include language in the Committee’s report for fiscal year 2019 recommending that NIH expand its research efforts into amyloidosis, a group of rare diseases characterized by abnormally folded protein deposits in tissues. I also ask that the Committee direct NIH to inform the Committee on the steps taken to increase the understanding of the causes of amyloidosis and the measures taken to improve the diagnosis and treatment of this devastating group of diseases.
Mr. Chairman, I have presented Congressional testimony related to Amyloidosis for more than a decade. I want to thank you for the language included by the Senate Appropriations Committee in the fiscal year 2018 Health and Human Services report. Your Committee over the years has been instrumental in moving forward to finding the causes and a cure for Amyloidosis.
I wish I could report to you today that the efforts of NIH and others have solved the problem. However, there is no known cure for amyloidosis. I urge you to continue the efforts of this Committee to help people with amyloidosis have hope for the future.
Current methods of treatment are risky and unsuitable for many patients. I have endured two stem cell transplants in order to fight the deadly disease amyloidosis and have been one of the lucky ones to survive the disease for 15 years. This was due to the intensive, life-saving treatment that I have received through the Amyloidosis Center at Boston University School of Medicine and Boston Medical Center. I continue to participate in a clinical trial that looks for ways to diagnose and treat amyloidosis.
Amyloidosis remains a threat, even for people with successful treatment. After 13 years of no amyloidosis symptoms, last year I underwent five months of chemotherapy to address concerns that signs of amyloidosis were developing.
This additional treatment has been effective. Due to research, there are new forms of treatment that are options for me and patients with recurring amyloidosis. These new treatment options were not available 14 years ago. They provide evidence that funding through Health and Human Services can make a difference.
I ask for your support in helping me turn what has been my life-threatening experience into hope for others.
Amyloidosis occurs when unfolded or misfolded proteins form amyloid fibrils and are deposited in organs, such as the heart, kidneys and liver. These misfolded proteins clog the organs until they no longer are able to function—sometimes at a very rapid pace. I have been treated for primary amyloidosis, a blood or bone marrow disorder.
Amyloidosis can cause heart, kidney, or liver dysfunction and failure and severe neurologic problems. Left untreated, the average survival is about 15 months from the time of diagnosis.
Amyloidosis can literally kill people before they even know that they have the disease.
Researchers have not been able to determine the root cause of the disease or an effective low-risk treatment. The patients with amyloidosis who are able to obtain treatment face challenges that can include high dose chemotherapy and stem cell transplantation or organ transplantation.
Amyloidosis is vastly under-diagnosed. Thousands of people die because they were diagnosed too late to obtain effective treatment. Thousands of others die never knowing they had amyloidosis.
In addition to primary amyloidosis, there are also thousands of cases of inherited (familial) and age-related amyloidosis. The most common familial type of amyloidosis was found to be caused by mutations in a protein made in the liver. This is the form of amyloidosis that may be present in a significant number of African-Americans.
Older Americans are susceptible to heart disease due to amyloid formed from the non-mutated form of the same protein. Another type of amyloidosis, secondary or reactive amyloidosis, occurs in patients with chronic infections or inflammatory diseases.
It was not until the 1980s that research identified the most common amyloid proteins and rationales for treatment began being discussed. The first clinical trial using oral chemotherapy for primary amyloidosis was begun 28 years ago, and high dose chemotherapy with stem cell transplantation was developed in 1994. The first liver transplant in the United States for familial amyloidosis was performed in 1992.
There is no explanation for how or why amyloidosis develops. Although progress has been made in developing alternate forms of treatment for amyloidosis, there is still no known reliable cure.
All of these types of amyloidosis, left undiagnosed or untreated, are fatal.
The Amyloidosis Center at Boston University School of Medicine and Boston Medical Center, and other centers for amyloidosis treatment, have found that high dose intravenous chemotherapy followed by stem cell transplantation is an effective treatment in selected patients with primary amyloidosis. Abnormal bone marrow cells producing amyloidogenic precursor protein are killed through high dose chemotherapy, and the patient’s own extracted blood stem cells are replaced in order to improve the recovery process.
The treatment of individuals identified with amyloidosis varies with each patient. It depends on the type of amyloidosis, the specific organ systems involved, and the extent of involvement. An exact course of the disease is unpredictable. Some patients have achieved remission of disease and major organ system improvement. Barring a cure to amyloidosis, the current treatment goal is to provide a complete remission and if not to induce a “durable” or long remission.
The high dose chemotherapy and stem cell transplantation and other new drugs have increased the remission rate and long-term survival dramatically. However, this treatment can also be life threatening and more research needs to be done to provide less risky forms of treatment.
Prior year research and equipment funding through HHS and NIH has been helpful in developing new treatment alternatives for some patients with amyloidosis. Although funding is severely limited, researchers are moving forward to develop targeted treatments that will specifically attack the amyloid proteins.
The outlook is better each year as clinical research has led to improvements in therapy, but more research and better diagnosis is necessary to save thousands of lives. Only through more research is there hope of further increasing the survival rate and finding additional treatments to help more patients.
Early diagnosis and treatment are the keys to success. More needs to be done in these areas to alert health professionals to identify this disease. Although I was diagnosed at a very early stage of the disease, many people are diagnosed after the point that they are physically able to undertake treatment.
I believe there are many more cases of amyloidosis than are known, as the disease can escape diagnosis and patients die of “heart failure, “liver failure,” etc. In reality, some of these people had amyloidosis. Perhaps amyloidosis is not as rare a disease as we think.
Through the leadership of this Committee and the further involvement of the U.S. Government, a number of positive developments have occurred.
- The National Institutes of Health has substantially increased its interest in amyloidosis. The Amyloidosis Research Consortium (ARC), a network of clinical centers caring for amyloidosis patients, has developed and is working with the Food and Drug Administration and pharmaceutical companies to enhance drug development for amyloidosis.
- Research supported by the National Institute of Neurologic Disorders and Stroke at NIH and the Office of Orphan Products Development at the Food and Drug Administration led to successful repurposing of a generic drug that markedly slows progression of familial amyloidosis.
- There has been increased basic and clinical research at the Boston University Amyloidosis Center: models of light chain (AL) amyloid disease have been developed; serum chaperone proteins that cause amyloid precursor protein misfolding are being identified; imaging techniques for the diagnosis of amyloid disease are being investigated, and new clinical trials for AL and familial amyloidosis are underway. A study of the age-related form of amyloid heart disease has provided natural history data.
- Federal funding for research, equipment and treatment has been an important element in progress to date. Further funding is essential to speed the pace of discovery for basic and clinical research.
REQUEST FOR FISCAL YEAR 2019
Mr. Chairman, the United States Congress and the Executive branch working together are key to finding a cure for and alerting people to this terrible disease. I ask that the Committee take the following actions in the fiscal year 2019 Committee report:
- First, include language recommending that NIH expand its research efforts into amyloidosis.
- Second, direct the NIH to keep the Committee informed on the steps taken to increase the understanding of the causes of amyloidosis and the measures taken to improve the diagnosis and treatment of this devastating group of diseases.
I want to use my experience with this rare disease to help save the lives of others. With your support more can be done to help me achieve my dream.
Thank you for your consideration.