In most people, alpha-1 antitrypsin is made in the liver and protects the lungs by counteracting inflammatory products that destroy lung tissue. But about 100,000 Americans have alpha-1 antitrypsin deficiency, according to the Miami-based Alpha-1 Foundation, a national not-for-profit organization devoted to finding a cure. In addition, medical authorities suspect less than 5 percent of affected individuals are diagnosed, often not until they are in their mid- to late-30s, after extensive lung damage occurs. Shortness of breath, wheezing, chronic cough and recurring chest colds are signs of the disease.
It is important that alpha-1 patients avoid cigarette smoke, said Mark Brantly, M.D., a professor of medicine and molecular genetics and microbiology at UF's College of Medicine who develops clinical research programs aimed at developing therapies for alpha-1 patients. Alpha-1 deficiency can in some patients lead to emphysema and cirrhosis, both progressive diseases that can be fatal.
Alpha-1 patients with symptoms of emphysema can be treated through weekly intravenous injections of alpha-1 protein derived from human plasma. The injections must continue throughout a patient's life, according to the American Lung Association. It does not cure, but it does appear to slow the progression of this disease.
Patients in the clinical trial - 10 men and two women who ranged from 42 to 69 - were asked to discontinue their replacement therapy 28 days before receiving the gene therapy.
One volunteer who had not been on protein replacement therapy exhibited low-level expression of alpha-1 antitrypsin, which was detectable 30
Source:University of Florida