The Changing Face of Cystic Fibrosis

It’s Not Dorothy Andersen’s CF Anymore (A92)

2:15-4:15 p.m.

Ballroom B (South Building, Level 3), Walter E. Washington Convention Center

Cystic Fibrosis didn’t even have a name until 1936. That was when Dorothy Hansine Andersen, MD, recognized the disparate symptoms of CF as a single syndrome and eventually gave it a name.

“In Dorothy Andersen’s day, newborns with CF didn’t live longer than months or a few years,” says Scott H. Randell, PhD, associate professor of cell biology and physiology, and principal investigator at the University of North Carolina Marisco Lung Institute. “Now the mean age of survival is 40 in the United States. And it is still improving. There have been significant changes in the CF timeline since her era.”

Scott H. Randell, PhD

Dr. Randell and Stephanie D. Davis, MD, professor of pediatrics at Indiana University School of Medicine, are co-moderators of a session on what is new in CF treatment.

“This session is intended to update caregivers and researchers about the incredible story of advances in CF and help them stay up to date in the latest developments from basic and clinical science and animal models to the treatment pipeline,” Dr. Randell says. “We will begin with an explosive look at CF from the patient perspective by Emily Kramer-Golinkoff, one of the most amazing people you will ever meet in the CF community.”

Ms. Kramer-Golinkoff founded Emily’s Entourage, one of the most visible patient advocacy groups in CF. She has raised more than $2 million for research focused on less common forms of CF and was named a Champion of Change for Precision Medicine by the White House in 2015.

At the heart of the pulmonary manifestations of CF is a maelstrom of mucus, which is beginning to be understood and tamed even in the youngest newborns with CF. Many advances in CF began with a veritable Noah’s ark of animal models. The CF mouse was the first animal model, Dr. Randell says, followed by the CF pig, ferret, rat, and rabbit.

“None of them exactly recapitulate the human disease, but each does to a different extent in different organ systems,” he explains. “The CF mouse doesn’t get the lung disease but does get the intestinal disease. The CF pig gets both while the CF ferret gets CF diabetes. Every model gives us a different piece of the CF puzzle.”

Although CF is caused by a mutation in a single gene, more than 1,800 mutations to the cystic fibrosis transmembrane conductance gene have been identified. The development of CFTR modulators allows clinicians to target the genetic defect responsible for the disease rather than targeting effects of the defect, such as thick, sticky mucus in the lungs. There are only two CFTR modulators approved by the FDA for use in the United States, Dr. Randell says, but many others are in development.

“This one session will give you a searing patient perspective of CF, an update on cutting-edge science, agents in the clinical pipeline, and progress toward a permanent cure,” he says. “Dorothy Andersen would recognize the disease our patients have, but she would be astounded by the progress we have made in treating it.”

It’s Not Dorothy Andersen’s CF Anymore (A92) is supported by an educational grant from Vertex Pharmaceuticals, Inc.

Return to ATS Daily Articles