Navigating challenges of MedTech research with rare-disease patients

Authored by: Tom Donnelly, MedTech Director and Amanda Pirraglia, Associate Director

Published in Quirk’s magazine, November 2023

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 (0.0001).

Orphan status may be for a rare or common condition (e.g., malaria, which has 3 million cases/year). Often, they are for rare diseases because of a small patient universe making it harder to conduct clinical trials. In the U.S., the Orphan Drug Act (1983) provides incentives for the development of drugs to treat rare diseases including seven years of market exclusivity after approval.

Read the full article in Quirk’s magazine.