Doernbecher researchers awarded more than $9 million to fight Fanconi anemia

10/10/16  Portland, Ore.

Five-year study to investigate new treatments for life-limiting genetic childhood disease

Fanconi anemia is a severe and frequently fatal genetic disease that causes birth defects, bone marrow failure and increased risk of cancer. Despite research advances, medical therapies for the condition have not evolved in more than 30 years.

Thanks to a $9.9 million grant from the National Heart, Lung, and Blood Institute, a team led by Markus Grompe, M.D., director of the Oregon Stem Cell Center at OHSU and the Papé Family Pediatric Research Institute at OHSU Doernbecher Children’s Hospital, will work to understand human response to novel drug treatments that have shown promise in FA-positive animal models.

“Three decades is too long to wait for new, targeted therapies – especially when the average life expectancy of an individual living with FA is only 22 years,” said Grompe, principal investigator for the study. “We anticipate that the findings of this research will transform the current landscape and may soon yield novel treatments for patients fighting this devastating condition.”

In partnership with the laboratories of Alan D’Andrea, M.D. of Harvard University and Akiko Shimamura, M.D., Ph.D., of the Dana Farber Cancer Institute, OHSU will conduct three scientific projects over the course of five years. Two of the projects will prioritize viable drug compounds for clinical study, using animal and human cell models. The results will lead to the third project: a human clinical trial.

“We have already identified several excellent drug candidates; therefore, we fully expect to reach clinical trial phase within our funding period,” Grompe explained.

“This important work has the potential to be life-altering for those suffering from FA,” said Kevin McQueen, president, Fanconi Anemia Research Fund Board and father of 17-year-old Sean, who was diagnosed with the condition in 2000. “The forthcoming research will lay the groundwork for developing new interventions for FA that could dramatically improve and extend lives. Most importantly, it provides hope of a brighter future for FA families.”

This research is supported by The National Heart, Lung, and Blood Institute of the National Institutes of Health (2P01HL048546-21A). Novel therapies for FA are at the very core of the NHLBI mission. This program project represents the only major effort-at the national or international level – in either academia or industry to develop a novel small molecule therapy for this devastating disease.

About OHSU Doernbecher Children's Hospital

OHSU Doernbecher Children's Hospital ranks among the nation’s Best Children’s Hospitals. Its nationally recognized physicians and nurses provide a full range of specialty and subspecialty care to tens of thousands of children annually, resulting in 200,000 discharges, surgeries, transports and outpatient visits annually in a patient- and family-centered environment. OHSU Doernbecher providers also travel throughout Oregon and Southwest Washington, providing specialty care to more than 3,000 children at more than 200 outreach clinics in 15 locations. Using state-of-the-art, secure two-way video and audio communication, OHSU Doernbecher’s Telemedicine Network connects pediatric intensivists and neonatologists to emergency room physicians statewide to help evaluate time-critical pediatric patient needs and assist with treatment plans.