#PhRMA12 Panel 3 Recap - Rare, But Not Insignificant

#PhRMA12 Panel 3 Recap - Rare, But Not Insignificant

04.12.12 | By Kate Connors

Rare disease panel moderator Mike Huckman, Senior Vice President of MSLGROUP Healthcare and former CNBC commentator, asked panelists whether rare disease research is "having a moment" or whether this is a field that will continue to grow.

Genzyme President and CEO David Meeker responded that in his opinion, "this is an enduring need," reiterating that of 7,000 diseases, we only currently have 200-300 approved therapies.

He explained why he thinks this research is growing: "Medicine, as a rule, is evolving in a way where everything is becoming smaller. That's the power of science. We're understanding ways in which diseases like cancer are no longer one disease, they are groupings of smaller diseases. The idea that you can target a subset of patients and develop a therapy that targets the underlying genetics of the disease is a natural evolution of the way that medicine is going and should be going."

Quintiles Senior Vice President John Doyle also added that, given the evolution of science, it is "based on an appropriate distribution of resources." In other words, with growing understanding is growing investment.

Voicing that the knowledge we develop from rare disease research might expand to other personalized medicines was Genia Long, Managing Principal with Analysis Group, Inc.: "Our hope is that we can really marry those evolving scientific insights and capabilities in the rare disease framework. We can take those insights from the framework and apply them in a future where we'll all going to be looking at personalized medicine across the board."

Harvard Medical School's Aaron Kesselheim agreed, calling it part of the "continuum of research."

Panelists discussed that this growth in rare disease research is strong despite the remarkable challenges, which range from a lack of expertise among reviewers at FDA to the fact that many patients remain undiagnosed themselves.

Long generalized that the needs for a positive development climate are broad: "An economic model that works, a regulatory model that works, and a clinical model that is compelling."

Genzyme's Meeker added about the importance of working with patient communities: "It works best in collaboration with families."

Sanofi CEO Christopher Viehbacher spoke up from the audience, passionately emphasizing the fact that rare disease research has represented a sort of non-institutionalization of healthcare by truly appreciating the role of the patient, calling it "what inspires me."

Meeker also voiced the importance of biopharmaceutical companies collaborating with government-funded researchers to further our scientific capabilities: "The public gains from the development of medicines that address unmet medical needs. Having public funding for the early part of it allows that academic network to flourish, and if an idea pops, a partner company can provide value and make that breakthrough accessible for patients."

The panelists all agreed that this year's reauthorization of the Prescription Drug User Fee Act has the potential to increase FDA's resources in a meaningful way for rare disease research, especially given the positive provisions within the FDA's performance goals letter. Meeker said, "FDA needs both the resources and the expertise." Added Doyle about the challenges associated with finding expertise at the FDA: "Engage early and often with regulators."

Doyle also suggested that there is a changing landscape within rare disease research: not only is there a significant increase in research, but it is leading to competition as multiple drugs are being developed for some specific rare diseases - something that would have previously been unthinkable in a field in which so much of this investment is new.

Doyle concluded: "If pharma doesn't do it, who will?"

Follow Kate on Twitter @KateAtPhRMA.

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