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Alpha-1 Foundation MASAC chair presents case for Alpha-1 liver research to FDA committee hearing
DALLAS, TX — Jim Stocks, MD, who chairs the Alpha-1 Foundation’s Medical and Scientific Advisory Committee, spoke this week of the need for new, effective treatments for Alpha-1 liver disease at a public meeting of a U.S. Food and Drug Administration (FDA) advisory committee.
The Pharmaceutical Science and Clinical Pharmacology Advisory Committee of the FDA was seeking comment on “innovative approaches to the development of drugs for orphan and rare diseases.”
This is the text of Stocks’ presentation to the committee:
Mr. Chair and Committee members.
Thank you for the opportunity to address you today.
My name is Jim Stocks. I am a Professor of Medicine at The University of Texas Health Science Center at Tyler in East Texas – at least I am until the next Texas state budget is out. I am a pulmonary internist with an academic career focused upon clinical research and drug development. My particular interest and experience has been in Alpha-1 Antitrypsin Deficiency.
I am here today as an advocate of the Alpha-1 Antitrypsin Deficiency medical and research communities, in particular as the current chair of the Alpha-1 Foundation’s Medical and Scientific Advisory Committee and asked by the Foundation to speak here today.
Alpha-1 Antitrypsin Deficiency (Alpha-1) in its most severe form is a genetic/hereditary condition that leads to decreased circulating levels of the protein alpha-1 antitrypsin (AAT) and significantly increases the risk of serious lung disease in adults and liver disease in infants, children and adults. Severe deficiency affects over 100,000 US citizens. The pathophysiology of Alpha-1 is that while the aberrant alpha-1 proteins are expressed in the liver, they are largely unable to be transported outside of the liver and into the bloodstream from where the anti-inflammatory benefits of alpha-1 are realized.
The awareness of the alpha-1 deficiency state and its association with lung disease dates back to 1963 when serum protein electrophoresis was first being developed. Alpha-1 deficiency is currently viewed as the leading identified genetic risk factor for COPD. As a pulmonologist, I have spent much of the last 25 years subject to the bias of this history, believing that serious Alpha-1 liver disease was primarily a problem in children and affecting only a small subset those with Alpha-1 deficiency.
As a clinical investigator I have been involved in the development of all of the currently available plasma-derived medications for the treatment of the lung disease due to this genetic condition.
But having succeeded in helping to bring to the therapeutic table a menu of options for the treatment of lung disease in Alpha-1, I am now finding myself humbled by the nature of the condition. These now available drugs are able to slow the progression of lung disease. So w, I am thwarted by the recognition that virtually all of them are now faced with the reality of progressive liver disease – liver disease as in hepatitis, cirrhosis, and even liver cancer. And having spent the last quarter century developing pulmonary therapeutic agents, I am embarrassed to realize that while four new pulmonary Alpha-1 drugs have been developed in my career, no agents are available to treat the true underlying nature of Alpha-1 deficiency – that it is a liver disorder at its heart.
Here as a representative of the medical and research community, I applaud the agency in its efforts to address the difficulties of orphan drug development. I and my colleagues are very much aware of the difficulties of detection and education as to rare diseases. I would ask that the agency continue its pursuit of drug development tools such as the use of biomarkers and innovative trial designs. I would also ask that it remain focused on facilitating the marriage of academics and industry. Our citizens and our children need this help.
