Ann Peel gave her testimony on amyloidosis to the House and Senate Appropriations Committees on June 2nd. The testimony seeks support for Amyloidosis programs from Congress in the fiscal year 2018 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
HEALTH AND HUMAN SERVICES
NATIONAL INSTITUTES OF HEALTH
JUNE 2, 2017
Amyloidosis is a rare and often fatal disease. I ask that you include language in the Committee’s report for fiscal year 2018 recommending that the National Institutes of Health (NIH) expand its research efforts into amyloidosis, a rare disease characterized by abnormally folded protein deposits in tissues. I also request that the report language for fiscal 2018 directs 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.
There is no known cure for amyloidosis.
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 14 years. This was due to the intensive, life-saving treatment that I have received. I continue to participate in a clinical trial that looks for ways to diagnose and treat amyloidosis.
Even for people with successful treatment, amyloidosis remains a threat. 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 and treatment that has been developed over the past 14 years.
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.
More research needs to be funded for various types of amyloidosis.
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.
I want to use my experience with this rare disease to help save the lives of others.
Amyloidosis occurs when unfolded or misfolded proteins form amyloid fibrils and are deposited in organs, such as the heart, kidney 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.
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 amyloidosis 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 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 rescue 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.
Although it has been almost 14 years since my initial stem cell transplant for amyloidosis, I, like most patients, am faced with recurring amyloidosis. Fortunately, due to research, there are new forms of treatment that are options for me and patients with recurring amyloidosis. These were not available 14 years ago. This is evidence that funding through Health and Human Services can make a difference.
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.
Timely diagnosis is also of great concern. 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.
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.
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 NIH, particularly the Office of Rare Diseases, participates in meetings and symposia and works closely with organizations doing research and outreach on 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. In partnership with pharmaceutical companies, new types of treatment, RNA interference and antisense oligonucleotides that work by decreasing production of the precursor protein are now in clinical trials.
- 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. The National Institute of Aging has been supporting this work.
- 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 2018
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 to help address this deadly disease:
- First, include in the fiscal year 2018 Committee report language recommending that NIH expand its research efforts into amyloidosis, a group of rare diseases characterized by abnormally folded protein deposits in tissues.
- 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 ask for your support in helping me turn what has been my life-threatening experience into hope for others.
Thank you for your consideration.