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Researchers Find Drug May Help Cystic Fibrosis Patients BALTIMORE, MD -- November 17, 1997 -- Researchers at the Johns Hopkins Children's Center have found that a drug used to normalize blood ammonia levels also holds promise for cystic fibrosis. People with cystic fibrosis have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which normally codes for a protein that transports chloride across the cell membrane. Approximately 70 percent of cystic fibrosis patients have the same mutation (called the deltaF508 mutation) in this gene, which results in a protein that is partly functional but that rarely gets transported to the surface of the cell. Instead, these CFTR proteins become stuck on the way to the surface and are degraded. Consequently, little or no chloride can be transported across the cell membrane. In cystic fibrosis, this chloride imbalance results in a thick mucus that causes recurrent airway and intestinal obstructions, as well as chronic respiratory infections. The addition of sodium 4-phenylbutyrate (4PBA) to cells with the deltaF508 mutation allows more CFTR proteins to reach cell surfaces, where they can transport chloride, according to Ronald C. Rubenstein, M.D., Ph.D., an instructor in pediatrics at Hopkins and lead author of the study. This phenomenon occurs at concentrations of 4PBA normally seen in patients who already take the drug for urea cycle disorders, which are genetic diseases characterized by high levels of ammonia in the bloodstream. The study appeared in the Nov. 15, 1997 issue of the Journal of Clinical Investigation. "A therapy directed at correcting the abnormal intracellular of the deltaF508 mutation is potentially beneficial to the majority of CF patients," Rubenstein said. "We are very encouraged by 4PBA's apparent action to repair this mutation's function in the lab." Cystic fibrosis occurs in about one in every 2,500 births in the Caucasian population, one in every 16,000 births in the African American population, and about one in every 90,000 births in the Asian American population. "There are currently an estimated 23,000 patients diagnosed with CF in the United States, with an average survival age of 31 years," explained Pamela Zeitlin, M.D., Ph.D., associate professor of pediatrics at Johns Hopkins and a co-author of the study. "4PBA has the potential to benefit more than two-thirds of these patients." However, say Rubenstein and Zeitlin, it is not clear if this therapy alone would lead to significant improvement in patients. Even if the mutant protein reaches the surface of the cell, it still does not transport as much chloride as normal proteins do. Rubenstein and Zeitlin are currently conducting clinical trials of 4PBA in CF patients who have the deltaF508 mutation. E-mail this page to a friend or colleague! To print, use this version