The landscape of orphan therapies has predominantly emphasized drugs and biologics over medical devices for rare diseases. Recent technological advancements, particularly in digital remote monitoring and other innovative technologies, have unveiled new prospects for orphan device development. This shift underscores the potential of these devices in the prevention, diagnosis, monitoring, treatment, and overall enhancement of wellbeing of people living with rare disease. However, despite their significance, only a small percentage of rare diseases currently have approved orphan devices, creating a substantial unmet need for their development. In order to better understand the current orphan device landscape, the International Rare Diseases Research Consortium (IRDiRC) Working Group on Medical Technologies for rare diseases set out to investigate the regulatory landscape, some of the current developments, and the basis of patient engagement in orphan device development. Existing regulatory frameworks vary across regions, offering specific designations and incentives, such as the Humanitarian Device Exemption (HDE) in the United States, Japan’s orphan device designation criteria, and conditional approvals in China. Notably, Europe lacks specific legislation for rare diseases within its medical device regulations, but has developed guidance. Initiatives like the Pediatric Device Consortia Grant Program and System of Hospitals for Innovation in Pediatrics – Medical Devices (SHIP-MD) in the U.S. and the EU4Health co-funded projects in the EU aim to accelerate medical device development, particularly for children and rare diseases. Moreover, patient engagement remains crucial throughout the device development process, emphasizing the need for patient involvement in setting research priorities, study design, execution, and post-approval stages. Furthermore, greater harmonization across regulatory jurisdictions, and greater emphasis on patient engagement may help to facilitate opportunities to address the need for medical devices specifically designed and labelled for rare disease and pediatric populations. Enhancing collaboration among stakeholders, including people living with rare diseases, holds promise for advancing the development of tailored medical devices for rare diseases, ultimately improving patient outcomes and quality of life.
Dooms et al. (Mon,) studied this question.