Alpha-1 Marks 50-year Milestone

Charlie Strange, MD

Charlie Strange, MD

The landmark discovery of Alpha-1 antitrypsin deficiency came 50 years ago, and the ATS will pay tribute to that discovery during a Wednesday symposium, “Alpha-1 Antitrypsin Deficiency: The Next 50 Years.”

Charlie Strange, MD, professor of pulmonary and critical care medicine at the Medical University of South Carolina, Charleston, and former ATS President Gerard “Gerry” M. Turino, MD, who conducts research and clinical work at the James P. Mara Center for Lung Disease in St. Luke’s and Roosevelt Hospitals Division of Pulmonary, Critical Care, and Sleep Medicine, New York, are the co-chairs.

Dr. Strange believes it is important for physicians to understand the political and scientific dimensions of Alpha-1 in order to better understand and conceptualize how to advance COPD care.

“It is the best described genetic cause of COPD. We believe it accounts for 1 percent of all patients with COPD, which characterizes it as a rare disease that needs to be ruled out in all COPD patients,” Dr. Strange said.

“Alpha-1 is well studied because it has informed us of the antiprotease mechanism of emphysema formation. We learned from clinical observation that some people deficient in the Alpha-1 gene sometimes develop emphysema without cigarette smoking. That was important in understanding all of COPD, not just Alpha-1 COPD,” said Dr. Strange, who runs the Alpha-1 Registry, which has 4,100 people in its rolls.

The eight talks, which will be followed by a panel discussion, will focus on:

  • “Introduction: A Patient’s Perspective” with John Walsh, Miami
  • “Alpha-1 Antitrypsin Deficiency: The First 50 Years and 50 Years into the Future” with Robert “Sandy” Sandhaus, MD, PhD, Denver
  • “Emphysema Pathogenesis: Lessons for the Future Learned from AATD” with Stephen Rennard, MD, Omaha, Neb.
  • “How Much is the PIMZ Carrier at Risk?” with Noel McElvaney, MB, MBBS, Dublin
  • “AATD and the Microbiome” with Dr. Strange
  • “Detection of Alpha-1 Antitrypsin Deficiency” with Michael Campos, MD, Miami
  • “Treatment of AATD” (including the RAPID Trial), with Kenneth Chapman, MD, MSc, Toronto
  • “Guidelines for AATD” James Stoller, MD, MS, Cleveland

“This disease has informed so much of the science of COPD that we think it will also inform future studies for the next 50 years,” Dr. Strange said. “This rare disease has a lot of resources that other rare disease communities don’t, so we hold it up as a model for other rare diseases—both on the research front and on the patient support side.”