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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.

The Department of Health and Human Services, at the direction of Congress, has recently begun to address concerns regarding the development of medical devices designed specifically for the pediatric population, including devices for pediatric mechanical circulatory support, as evidenced by the National Institutes of Health's (NIH) funding of several development contracts. Food and Drug Administration (FDA) approval for marketing of these devices will typically follow either of two regulatory pathways: the Humanitarian Device Exemption (HDE) or the Premarket Application (PMA). An HDE is limited both in the extent of clinical use and economic benefit to the manufacturer, but does not require data derived from a clinical trial for market approval. A PMA allows for use in a larger patient population and offers economic benefit for the manufacturer; it does, however, almost always necessitate data derived from a clinical trial. The HDE and PMA require demonstration of a reasonable assurance of safety. In addition, an HDE requires a demonstration of probable benefit, whereas a PMA requires a demonstration of a reasonable assurance of effectiveness. The evidence that can be used to support an HDE or a PMA approval may include both preclinical and clinical data. Types of preclinical tests needed depend upon the device design and its intended use, because circulatory support devices are all unique.

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