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Foundation Public Policy Director urges FDA to "license fast and follow long" to speed new drugs for rare diseases
The following is the text of a statement by Miriam O’Day, Senior Director, Public Policy, for the Alpha-1 Foundation. She spoke at a public hearing today on “Treatment of Rare Diseases” by the US Food and Drug Administration (FDA).
Thank you to the FDA for convening this listening session and thank you to the National Organization for Rare Disorders (NORD) for their advocacy that ensures that meetings like this take place.
I am Miriam O’Day and I am here today representing the Alpha-1 Foundation.
Yesterday you heard from a number of advocates – some of them representing themselves and their family members. Their statements were moving and I commend them for coming to address the need to enhance therapeutic development for the treatment of rare disorders, the majority of which have no treatment. Many rare disorders go undiagnosed despite symptoms and interactions with the medical system and for over 6,000 identified rare disorders – the majority lack a therapeutic solution. The HIV and surrogate markers example has been referenced at this meeting – we should not forget that the story of HIV is one of advocacy. To the extent possible, we should look to these positive models and affect system change.
We have a problem. The Orphan Drug Act has had a measurable impact on the development of new therapies – but 357 drugs and biologics since 1983 to treat over 6,000 identified disorders is not acceptable. Each of these disorders does not have an advocate to come before you and plead their case.
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic/hereditary condition that leads to decreased circulating levels of alpha-1 antitrypsin (AAT) and significantly increases the risk of serious lung disease in adults and liver disease in infants, children and adults. Alpha-1 is the leading identified risk factor for COPD.
Testing for Alpha-1 Antitrypsin Deficiency (Alpha-1) can be as simple as a finger stick or as complex as sequencing an unusual strand of DNA. Alpha-1 is a laboratory diagnosis, not a clinical diagnosis. You can’t definitively make the diagnosis based on the patient’s medical history or physical examination. Diagnosis is made by a simple blood test.
The first drug available to treat Alpha-1 was a plasma-based augmentation therapy licensed as a result of the NIH’s seven-year longitudinal study in Alpha-1.
In 1989 the history of Alpha-1 changed when John W. Walsh was diagnosed as a result of his twin brother’s diagnosis. Mr. Walsh is the co-founder, President and CEO of the Alpha-1 Foundation, which under his leadership has become internationally recognized and has invested millions of dollars to support Alpha-1 research and research-related projects worldwide. Mr. Walsh is also co-founder and President of AlphaNet, Inc., a not-for-profit disease management services company providing comprehensive care exclusively for individuals with Alpha-1. As a result of the infrastructure and support provided by the Foundation and AlphaNet, two additional plasma-based therapies entered the marketplace and several companies have drugs in development for the treatment of Alpha-1.
Since its inception, the stated goal of the Alpha-1 Foundation’s research program was to better understand the biological link between the genetic defect and phenotypic manifestation of Alpha-1. Early on, it was recognized that a multidimensional approach would best serve this goal.
Thus, three separate but interrelated programs were created to promote basic and clinical research under the oversight of a voluntary Medical and Scientific Advisory Committee and administered by experienced staff with advice from a Scientific Director. The program’s three major pillars have been a peer-reviewed research grant program, a DNA and Tissue Bank and a Research Registry. The Alpha-1 Research Registry is a confidential database of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and persons identified as Alpha-1 carriers. It serves as a resource for investigators seeking individuals with Alpha-1 to participate in clinical trials, surveys, and other scientific and medical data collection activities. The Foundation appreciates the workshops that have been co-sponsored by the FDA and the NIH to advance knowledge related to specific questions in Alpha-1.
An analysis of the research program’s productivity and its impact on the current understanding of the biology of Alpha-1 shows that the Foundation has succeeded in its quest to bring us closer to new therapeutic solutions and the cure of Alpha-1. The 38-million-dollar investment in research to date has clarified the mechanism of Alpha-1 disease and identified novel therapeutic targets. The Foundation is now in a position to promote more targeted research.
The gap between basic academic research and the marketing of new drugs, the principal impediment to drug development for rare diseases, can be bridged by a partnership between biotechnology companies and voluntary health advocacy (VHA) organizations.
Venture philanthropy has emerged as the ideal model for this partnership by linking expertise in biotechnology with the resources of VHA’s including academic researchers, donors and patient populations for new drug testing. The Foundation has established The Alpha-1 Project to promote this kind of research. The Alpha-1 Project (TAP), the venture philanthropy initiative of the Alpha-1 Foundation, is singularly focused on ridding the world of the effects of Chronic Obstructive Pulmonary Disease (COPD) and liver disease caused by Alpha-1 Antitrypsin Deficiency (Alpha-1). The hope is that the new drugs will benefit not only patients with Alpha-1 Antitrypsin Deficiency but also a large population with generic COPD.
Every solution should be sought to facilitate the development of next generation therapies including the use of inhaled technologies. While individuals with Alpha-1 are struggling for breath, solutions should be found that allow the FDA to be flexible and transparent in clinical trial design. We should change the paradigm to “license fast and follow long.”
