Cystic Fibrosis: The Importance of Patient Advocacy

The importance of patient advocacy in boosting research for cystic fibrosis

Despite major advances in the orphan drug development process, and recent important FDA drug approvals for patients with cystic fibrosis (CF), there is still a high unmet medical need among CF patients and a critical need for new treatments, particularly those with nonsense mutations who often have the greatest burden of disease and few, if any, treatment options. Increased collaboration and open communication between patient advocacy groups, industry leaders, and regulatory authorities can and must be a priority to accelerate research and development in CF, with the hope of getting new treatments to patients who need them as quickly as possible.  

CF is a rare genetic condition with devastating physical and emotional impacts on patients and their families. Despite currently approved FDA-therapies, there are still no approved drugs for CF patients with nonsense mutations. These patients represent about 10% to 13% of the overall CF patient population. 

At Eloxx Pharmaceuticals, we have a commitment to working with patient advocacy groups who share a similar vision of addressing this underserved patient segment. 

At patient advocacy group meetings, we can learn so much from individuals with CF, their parents and caregivers, CF clinicians, other biotech companies who share their perspectives and experiences with the disease, currently available therapies, and future drugs in development. I’ve heard directly from patients and parents about the substantial effects CF has on their daily lives. I’ve also heard what patients would value in future treatment options. 

Emily Kramer-Golinkoff is a CF patient who has the rare nonsense mutation, and none of the approved therapies have been able to help her. In one patient advocacy meeting I attended, Emily described her arduous daily routine, and shared that she has just learned from her physician that she had suffered a partial lung collapse. Currently, Emily spends countless hours a day in breathing treatments. In December 2011, Emily founded Emily’s Entourage, a nonprofit organization that fast-tracks research for new drugs and, hopefully, a cure for nonsense mutations of CF. 

“The single biggest asset that we have is desperation,” said Kramer-Golinkoff. “It spurs creativity, it spurs disruptive thinking and innovation, and instead of condemning it, we should flip it and turn it into a valuable asset. It can be really challenging to keep pushing through. At Emily’s Entourage, we will keep fighting until each patient with CF has a long, healthy, and productive life.”

Last year, the median age of death for CF patients was 30 years, according to the CF Foundation. 

As the chairman and CEO of Eloxx, a global biopharma company, I realize that we are in an urgent race against time to help these CF patients who currently have no options. We recently initiated a new program focused on 

inherited retinal disorders, and entered into a wide-ranging partnership with the Foundation Fighting Blindness. Its urgent mission is to drive the research that will provide preventions, treatments, and cures for the entire spectrum of retinal degenerative diseases. Our partnership with the Foundation Fighting Blindness will include broad scientific engagement supporting the Eloxx ocular portfolio development through scientific consultation, advisory support, clinical protocol reviews, and other activities.

Industry, regulators, and patient advocacy groups are in a unique position to provide insights and recommendations and work together to help accelerate drug development. We must encourage greater collaboration and new models, and the active participation of patients is an important step in overcoming many of the existing challenges in clinical development. It is vital to consider the particular needs of all stakeholders to ensure benefits from this increased engagement.

Transparency and open communication throughout the R&D process are essential. Orphan drug development has been a long, uphill battle, but due to recent legislation and greater collaboration between advocacy groups, industry, and government regulators, today, there are unprecedented opportunities for advancement. As a community, we must seize these opportunities with a goal of rapidly improving the lives of patients and their families.

Bob Ward is Chairman and CEO of Eloxx Pharmaceuticals