With Rare Disease Day approaching on the 28th of February, I find myself reflecting with fondness on my experiences within the field of rare diseases, and how these have shaped my approach to real-world evidence generation and medical affairs planning as a pharmaceutical physician.
Having joined a large pharmaceutical company in 2007, fresh from the NHS, my first job was to launch a new endothelin receptor antagonist (ERA) for pulmonary hypertension, an orphan disease, with only the registration study for support.
I was faced with a number of challenges then, which many in medical affairs will still recognise today, the first being the large number of stakeholders needing specific evidence not found within the clinical trial publication. Endpoints in this trial were regulator-specific but largely irrelevant to payors – where was the reduction in healthcare utilisation, for example? Secondly, and perhaps more importantly, these clinical trial endpoints didn’t always correlate with disease severity; where quality of life was measured, it was done using generic quality of life tools which failed to include many of the domains relevant to rare disease patients, and therefore risked underestimating any true impact on their quality of life. Finally, the prescribers were in perpetual need of information on patients outside the marketing authorisation – on those in the real world.
As a medical affairs physician, it would often fall to me to design ways of generating this real-world evidence to address my various stakeholders’ needs using the limited resource available. Over the coming weeks I’ll be sharing some of my personal experiences, alongside those of my agency Medialis, with a focus on medical affairs and real-world evidence generation.
We will be covering topics such as: designing and implementing rare disease registries, developing expert opinion, and how disease specific tools can provide more relevant patient information than generic ones.
In order to support our recommendations, we have been conducting original research in these areas though our not for profit arm and will begin publishing our findings in academic journals this year, We hope you find them useful and that they serve to stimulate debate…
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