BETHESDA, Md.—Reflecting the Cystic Fibrosis Foundation’s mission of “adding tomorrows,” its nonprofit affiliate, Cystic Fibrosis Foundation Therapeutics Inc. (CFFT), has launched a $14-million expansion of its research agreement with Genzyme to promote development of new treatments for people with the most common cystic fibrosis (CF) mutation, F508del.
The agreement will support research and development programs aimed at identifying compounds that could potentially fix the defective CFTR protein in people with CF, according to the CFFT. The F508del mutation causes a folding problem in the defective protein that disrupts its movement to the surface of the cell, where it is needed to regulate the flow of salt and fluids in and out of the cell.
CF is an autosomal recessive genetic disorder (passed down through families) that affects the lungs, pancreas, liver and intestines. It involves abnormal transport of chloride and sodium across the cell membrane, which causes a thick mucus to build up. CF is one of the most common lung diseases in children, and is a life-threatening disorder that causes lung infections and digestion problems. It may also affect sweat glands and the male reproductive system.
“The foundation is focused on supporting the discovery and development of powerful new therapies that attack the underlying cause of this deadly disease,” Robert J. Beall, CFF president and CEO, stated in a news release. “We are pleased to continue CFFT’s agreement with Genzyme, and are excited by the possibilities of what our pooled knowledge, expertise and resources can bring.”
Together with the new funding, Genzyme will focus on developing selected compounds and accelerating the process to eventually initiate new CF clinical trials, while the CFFT will continue its work with several ongoing research programs conducted in collaboration with biotechnology and pharmaceutical companies focused on finding treatment for the basic genetic defect in CF.
Laurie Fink, national director of media relations at the CF Foundation, said that while nearly 90 percent of people with CF have at least one copy of the F508del mutation, nearly 50 percent of people with CF have two copies of the mutation. At least 70,000 people worldwide have the disease, with 30,000 of that population living with CF in the United States.
Many people diagnosed with CF are under-nourished and fail to grow at a normal pace. That’s because the disease obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb vital nutrients.
“The $14-million research agreement with Genzyme that was announced in April of this year will support an expansion of research and development programs, with a focus on advancing select compounds into clinical trials,” Fink tells DDNews.
The initial effort with Genzyme in 2011 “yielded several compounds, known as correctors, which were shown through extensive testing in the laboratory to help the defective CFTR protein move to the cell surface,” Fink says.
The agreement with Genzyme “is part of CFF’s venture philanthropy model, through which we have raised and invested hundreds of millions of dollars to discover and develop breakthrough CF therapies,” she adds. “This strategy is responsible for new treatments that have provided life-altering benefits for people with CF, as well as resulted in a robust pipeline of potential drugs that target CF from every angle. Through our efforts, the life expectancy of a person with CF has doubled in the last 30 years, and research to find a cure is more promising than ever before.”
Currently, the U.S. Food and Drug Administration (FDA) “is reviewing an application for the approval of the potential lumacaftor/ivacaftor combination drug (Orkambi) for people with CF ages 12 and older who have two copies of the F508del mutation,” Fink relates. “The FDA’s target review date for Orkambi is July 5, 2015.”
Treating a complex disease like CF “requires therapies that address problems in different parts of the body, especially the lungs and the digestive system,” she notes. “Because the type and severity of CF symptoms can differ widely from person to person, there is no typical treatment plan for people with the disease.”
Current treatment options include the drug Kalvdeco in pill form, clearing the airways, inhaled medications, antibiotics and other drugs, implanted devices, nutrition and alternative therapies.
CFFT has research programs underway with many leading biotechnology and pharmaceutical companies to discover and develop drugs to treat the basic genetic defect in CF.
The CFFT has also recently established a partnership with the specialty biopharmaceutical company Shire plc for the development of technology that can maintain and/or restore lung function, as well as protect against respiratory infections, which are two primary health concerns in CF patients.
Shire has an extensive pipeline of promising therapeutics that the company believes will generate sales of about $3 billion by the year 2020, and the CFFT agreed to invest up to $15 million in their messenger RNA platform for cystic fibrosis.
