Rare diseases and orphan drugs: patient values, market trends and misconceptions.

Rare disease drug research and development has intensified over the past two decades and has been translating into an ever growing number of ‘orphan drugs’ which, in turn, has led to the emergence of an amplifying public policy debate over: the place of the rare diseases patient voice into drug development and approval; the rise of a niche market characterised by perceived stronger financial performance; concerns over the affordability of orphan drugs by current healthcare systems and its impact over long-term sustainability; or the suitability of current methods to evaluate the benefit brought by orphan drugs to patients.

This research project has had the ambition to generate rigorous empirical evidence to constructively feed into this public policy debate. Specifically, it has pertained to investigate: the concepts of value and of benefit-risk across rare disease patients and their caregivers; the reality of greater returns of investment yielded from orphan drugs; and also to what extent concerns over an upcoming ‘tidal wave’ of orphan drugs hold true by investigating the current state of orphan medicinal products in the EU.

Overall research findings:

• demonstrated that patients affected with rare diseases and their caregivers attribute most value to ‘drug response’, followed by the ‘risk of serious side effects’, and the ‘ability to conduct usual activities while on treatment’. They also confirmed that patients and caregivers were willing to accept greater risk or side effects associated with a new medicine, for instance, in hopes of finding some benefit, such as a higher chance of drug response or greater health improvement potential. Lastly, they corroborated that attitudes about benefit-risk may change over time with disease progression or context of care.

• contradicted the conventional wisdom prevailing in the early 2010s that specialised orphan drug companies had performed more strongly financially than other (bio)pharmaceutical companies.

• brought novel insights on the state of development of orphan designated medicines in the EU. By applying drug development success rates to a sample of 605 medicinal products that were granted orphan designation between 2002 and 2012, study results undermined commonly reported concerns over an upcoming ‘tidal wave’ of orphan drugs in the EU.