CFF Meeting Outlines Direction and Future of CF Health Care and Research

In November, the Cystic Fibrosis Foundation sold their royalty rights for CF related drugs developed by Vertex Pharmaceuticals for $3.3 billion. The number is staggering and it was the largest sale of its kind, leaving the Foundation seemingly swollen with its sudden cash influx.

Those with CF as well as their families were undoubtedly awed by the sale, but the question in each person’s mind was, “what does the sale mean for the future of the Foundation and those living with CF?”

To address the question, the Foundation recently held a webinar with 400 CF volunteers and donors to set the course for the Foundation as it navigates the possibilities of research and health care for patients in the coming years.

During the thirty-minute meeting, hosted by key members of the Foundation, two points were reinforced; fundraising efforts across the United States and elsewhere must remain vitalized and the Foundation will not stop their efforts until every person living with the disease has a permanent cure.

Maureen Fraser, vice president of field management at the Foundation opened the webinar saying, “I would like to stress that the path to a permanent cure is along one. It is a marathon, not a sprint.” She highlighted that, “without the continued support of donors funds from the royalties would most likely be depleted before we could achieve our mission.”

With $3.3 billion safely stored in the coffers of the CF Foundation it could seem as though we could all take a break as we wait for the cure the money is certain to bring. However, this idea is misleading and ignores the complexity of the disease and the time and resources necessary to discover its cure.

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In 1989, Francis Collins and colleagues discovered the CFTR gene, igniting hope that a cure was soon to follow. However, the cure still remains elusive. In the meeting, Alan Holmer, the Metro DC chapter board chairman, explained after the discovery of the gene a glimpse of hope did come when the Foundation invested in Vertex in 1998 and 17 years later the first group of CF patients experience the relief from the first generation of CF modulators like Kayldeco.

However, despite the progress that has been made and the money earned by the Foundation, there is much more to be done. Holmer stressed the need for continued fundraising efforts so that the goal of a permanent cure for every person with CF can be reached. “We are still a long way from the goal line,” explained Holmer, “and all likely hood it will take more than another 17 years to get there.”

While efforts are underway in pursuit of a cure, it is necessary that people with CF continue to receive care that can stabilize their health and slow the progression of the disease. Part of the funding gained by the Foundation will go toward these efforts and Preston Campbell, III, M.D. and executive vice president of medical affairs outlined the problems the Foundation will continue to address including:

• How to move the lung transplant median survival from 5 to 6 years, to 10, 20 years…
• How can serious infections like non-tuberculosis mycobacteria and MRSA be better treated?
• How can pseudomonas and other infections be eradicated completely in patients whose lungs are colonized by the bacteria?
• How can pancreatic function be restored in patients?
• How can childhood diagnosis be increased to intervene at an early age?

In the final segment of the virtual meeting, William Skach, M.D., and vice president of research affairs at the Foundation highlighted the exciting research that will continue to be funded with the capital generated by the sale.

Skach explained the various levels of research in CF with a small lesson on the biology of the disease. The complications of CF from mutations in the CFTR gene arise from the misfolding of the CFTR protein, which results in inflammation, bacterial infections and a continual loss in lung function. Therapies for the last 50 years have only addressed the management of these symptoms without addressing the root cause of the disease within the misfolded protein itself.

The first level of current CF research is designed to target the misfolded proteins in the cell. The CF modulators, like Kayldeco, help to alleviate symptoms of the disease by restoring the proper function of the protein. However, these types of therapies are not a complete solution with a portion of patients unable to take the drugs since some mutations result in a failure to produce the protein at all.

A second level of research is directed toward messenger RNA, which is used in the cell to produce the CFTR protein. In an effort to progress RNA therapies, Skach highlighted the Foundation’s recent $15 million investment in Shire, the UK based biopharmaceutical company, to develop an RNA therapy that could deliver the proper CFTR messenger RNA to patients tissues, such as the lung, so that cells could then produce the correct protein. The advantage and excitement of this therapy is that it could be available to all those with CF regardless of their mutation.

The final level of research for CF is directed toward DNA and provides the possibility for the Foundation’s end goal of a permanent cure. If the defective CFTR gene can be replaced with a properly functioning gene, by gene editing, or gene delivery, an end would then come to CF altogether. Research continues in this level of research and we can be certain the CF Foundation will be at the forefront driving its progress through the investment of much needed funds.

“This what the foundation means when they say dream big. We don’t want to be settled for treating some patients, we want to treat all patients and we are not settled for treating with medications that only partially correct the disease, we want a complete cure.” Skach continued, “this is where we are headed with the $3.3 billion and this what we’re going to use your money that you raised to try to get there.”