UC Researchers Play Key Roles at Rare Lung Disease Research Conference

The 2016 International Rare Lung Diseases Research Conference is designed to educate patients, help jump-start clinical trials and offer a forum for the latest research on rare lung diseases, according to Frank McCormack, MD, Taylor Professor and Director of the Division of Pulmonary, Critical Care and Sleep Medicine.

The conference is set for Sept. 22-25, 2016, at the Northern Kentucky Convention Center, Covington, KY. Among its sponsors are the National Institutes of Health Rare Lung Diseases Consortium, the LAM Foundation, the University of Cincinnati, Cincinnati Children’s Hospital Medical Center, UC Health and nearly a dozen industry sponsors and patient advocacy groups. 

Twenty-one researchers from UC and Cincinnati Children’s will be conference faculty, presenters or leaders of conference workshops. Investigators from dozens of academic institutions from around the world will also participate. McCormack and Bruce Trapnell, MD, UC professor of pediatrics, are conference organizers.

"What is really exciting about this meeting is the plan to get all the stakeholders at the table where discussion is relevant to advancing therapies and diagnostics,” says Trapnell, also assistant director of the Adult Cystic Fibrosis Center at Cincinnati Children’s. "The patients themselves, their families and patient advocacy groups and investigators all play pivotal roles in combating rare lung diseases.”

McCormack, also a physician at UC Health, says advances in more than 20 rare lung diseases will be shared with participants.

"It will be the largest rare lung disease conference held of its kind,” says McCormack. "Roughly 200 scientists and 200 patients will be participating. Patients and clinician participants in the Rare Lung Diseases Consortium who attend will receive a valuable education about a host of rare lung diseases while researchers will share the latest advances and strategies for clinical trials.”

McCormack is an expert in the study of pulmonary alveolar microlithiasis (PAM), an extremely rare disease that results in crystals of calcium phosphate forming in the airspaces of the lung, and lymphangioleiomyomatosis (LAM), a rare lung disorder primarily affecting women of childbearing age, causing progressive shortness of breath and recurrent lung collapses. LAM is caused by invasion of the lung by mutant smooth muscle cells, which dissolve healthy lung tissue and replace it with innumerable air-filled holes or cysts. It is estimated that LAM affects 5 women per million worldwide. 

Researchers at the UC and Cincinnati Children’s have been leaders in the tackling rare lung diseases. They have played pivotal roles in the development of surfactant therapies for premature infants with hyaline membrane disease, in the discovery of diseases and disease mechanisms associated with mutations in surfactant protein genes and regulation of surfactant metabolism, and in the conduct of the trial that led to U.S. Food and Drug Administration (FDA) approval of the drug sirolimus for the treatment of LAM. 

"Patients diagnosed with a rare disease like LAM feel very isolated, constantly having to explain their disease to family, friends and health care professionals alike,” says Susan Sherman, executive director of the Cincinnati-based LAM Foundation. 

"They may never meet another person with their disease. Even more devastating is the knowledge that there is very little research is dedicated to rare diseases, as compared to more common conditions like diabetes or cancer,” says Sherman.  "An event like the 2016 International Rare Lung Diseases Research Conference offers more than education and hope — it offers connection, validation, knowledge and a direct means for patients to contribute to research and inspire doctors and scientists to further their cause.”

Registration for the conference is free for rare lung disease patients, $300 for family and friends of patients and $450 for physicians and researchers. The cost includes all meals during the three-day conference.

Advocacy groups attending the conference will include The Lymphangioleiomyomatosis (LAM) Foundation, The Pulmonary Alveolar Proteinosis (PAP) Foundation, Castleman Disease Collaborative Network, the Alpha One Foundation, The Hermansky Pudlak Syndrome Network, The Histiocytosis Foundation, the Lymphangiomatosis and Gorham’s Disease Alliance, the Sjogren Syndrome Foundation, and the Tuberous Sclerosis Alliance.