Peer-reviewed article
Medical device development and innovation for rare and pediatric populations: a global landscape overview.
Dooms M, O'Connor D, Melvin T, Mueller F, Peiris V et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This paper reviews the global landscape of medical device development for rare diseases and pediatric populations. It examines regulatory frameworks across different regions, including the United States, Japan, China, and Europe, and describes incentive programs designed to accelerate device development. The document emphasizes the importance of patient engagement in the device development process and calls for greater regulatory harmonization to address the substantial unmet need for orphan medical devices.
Key points
- Only a small percentage of rare diseases currently have approved orphan devices, creating substantial unmet need
- Regulatory frameworks vary significantly: US has Humanitarian Device Exemption (HDE), Japan has orphan device designation criteria, China offers conditional approvals, and Europe lacks specific rare disease legislation but has guidance
- Programs like the Pediatric Device Consortia Grant Program (US) and EU4Health co-funded projects aim to accelerate device development for children and rare diseases
- Patient engagement is crucial throughout device development including research priority setting, study design, execution, and post-approval stages
- Greater regulatory harmonization and stakeholder collaboration could facilitate development of tailored medical devices for rare and pediatric populations
Limitations
This is a landscape overview focused on regulatory frameworks and policy initiatives rather than empirical evaluation of device effectiveness or outcomes in children. It does not provide data on how medical devices actually improve child health or wellbeing in rare disease populations.
Abstract
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.