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An orphan device, is a medical device that is essential for diagnosing, treating, or managing rare diseases. Nevertheless, very few medical devices are specifically developed for rare diseases (in contrast to orphan medicinal products). At the same time, many patients and carers express a substantial unmet need for new medical devices for their conditions.
Orphan devices constitute a very diverse group of products, reflecting the broad field of rare diseases. Device needs for rare diseases vary from noninvasive markers for monitoring disease activity, wearables and tests that allow home monitoring of disease by patients and treatment side effects, or imaging enhanced functional scans. Devices are also needed to support quality of life and activities of daily living as best as possible, helping, for example, with rehabilitation, muscle support, or nutrition support. As such, there is a high need to connect patients, carers, and healthcare professionals to technology that can address these requirements.
The development of medical technologies for rare diseases faces many of the same challenges as developing orphan medicinal products, including the small number of patients, the geographical spread of patients, the lack of expertise on specific diseases, and the fact that most diseases are pediatric-onset. Some geographies have developed supportive specific orphan-device legislation. However, there is no harmonization between different geographies, and joint applications between Europe, the United States and Japan do not exist. Examples of existing orphan device legislation are the United States Food and Drug Administration (FDA) Humanitarian Use Device (HUD) program, which designates medical devices to benefit patients in treating or diagnosing rare diseases. In Japan, the PMD Act outlines regulations for reviewing medical device applications, except for medical software programs which are independently regulated. Europe has no legislation specifically for medical devices for rare diseases in the implementation in 2021 of new regulations for in vitro diagnostics and medical devices. However, in 2024, a specific guidance has been developed for orphan devices, and since then, dedicated EMA panels to support the development of orphan devices have been set up.
The approval process provided by the FDA and the Japanese Pharmaceuticals and Medical Devices Agency allows a medical device to be marketed with several incentives and limited prove of effectiveness. Like orphan drugs, most orphan devices would not be profitable to develop and produce without government assistance and regulatory incentives due to the small number of patients affected by these conditions. The assignment of orphan status to a disease and to devices developed to diagnose and treat it is a matter of public policy that depends on the country's legislation if any exists.