Tom Donnelly is MedTech director at the Research Partnership. He can be reached at tom.donnelly@researchpartnership.com. Dan Buckley is field director at Just Worldwide. He can be reached at dan@just-worldwide.com. Amanda Pirraglia is associate director at the Research Partnership. She can be reached at amanda.pirraglia@researchpartnership.com. Andrew Watson is director, business insights at PTC Therapeutics. He can be reached at awatson@ptcbio.com.

As technology advances there is a growing array of MedTech solutions – wearables, voice-activated devices, telehealth, etc. – to better support patients in their daily lives. However, MedTech research with rare-disease patients presents several unique challenges that must be considered. Ideally, interviews would be in-person in a central location to observe device use; the rarity of the condition can lead to the need for a hybrid methodological approach. In this article, we will: provide some background on rare disease and how research can be different in this population; describe different methodological approaches, respondent configurations and recruitment considerations; and discuss aspects of moderation and analysis.

A rare disease affects less than 500 in 1,000,000 people (0.05% prevalence). Definitions vary slightly: in Europe, a rare disease affects less than 1 in 2,000, while in the U.S. it affects less than 200,000 people.1 Overall rare diseases affect up to 6% of the world population (~1 in 20) and about 80% of rare diseases have a genetic origin. Sadly only ~5% have an approved treatment.2 

Further subclassification can help to define those indications that are ultra-rare or those that have orphan disease status. The definition of an ultra-rare disease in Europe is that it affects less than 20 in 1,000,000, while the U.S. has no distinction for ultra-rare.3 Approximately 85% of the rare diseases have an incidence of less than 1 in a million (0...