Children and Adults With Rare Diseases Need Innovative Medical Devices

Abstract

Rare diseases (RD) affect approximately 30 million Americans, half of whom are children. This study is the first to comprehensively evaluate their medical device needs via a survey of physicians. The study sought to identify and document the presumed unmet diagnostic and therapeutic device needs for RD management; clarify the magnitude of the potential unmet need; and generate meaningful data to inform medical device stakeholders. A cross-sectional nonprobability survey was conducted. The study population was drawn from the membership files of four groups: FDA Medical Devices Advisory Committee, Pediatric Advisory Committee, Pediatric Device Consortia, and National Institutes of Health (NIH) Rare Diseases Clinical Research Network. Only physician respondents with experience or knowledge regarding RD were eligible. Among eligible respondents, 90% confirmed the need for innovative devices to care for people with RD. Over 850 device needs were identified for 436 RD, with 74% of needs related to children. Pediatric physicians (OR = 2.11, 95% CI 1.01-4.39, P = 0.046) and physicians with more RD experience reflected greater dissatisfaction with existing devices (OR = 4.49, 95% CI 2.25-8.96, P < 0.0001). Creation of entirely new devices is the top recommendation for mitigating needs. This study demonstrates a major public health need for innovative medical devices to care for children and adults with RD. FDA and NIH support and seek opportunities to accelerate device development for these vulnerable patients.

Fig. 1

Survey organization and primary skip pattern

Fig. 2

Mean factor scores for impediments and exploratory factor analysis*. *Based on 385 respondents; a denominator less than 385 indicates item missing data; CI denotes confidence interval; P values were calculated using t-test comparing pediatric versus nonpediatric and medicine and nonmedicine; Score is calculated as 0 = not an impediment/no answer, 1 = small extent, 2 = moderate extent, and 3 = large extent. †Significant difference at P < 0.05.