Regulatory Q&As – Regulatory Framework

Medical devices intended for rare diseases are regulated under the general EU medical devices legislation:

• Regulation (EU) 2017/745 on Medical Devices (MDR);
• Regulation (EU) 2017/746 on In Vitro Diagnostic Medical Devices (IVDR).

These regulations establish requirements for classification, conformity assessment, clinical evaluation or performance evaluation, post-market surveillance, and CE marking for all medical devices placed on the EU market. They do not include any requirement specific to orphan medical devices

Therefore, there is currently no specific legislative pathway in the EU for medical devices addressing rare conditions. However, the regulatory challenges associated with such devices have been acknowledged at policy level, e.g. within MDCG discussions.

More information:

Regulation (EU) 2017/745 on Medical Devices (MDR)

Regulation (EU) 2017/746 on In Vitro Diagnostic Medical Devices (IVDR)

Guidance – MDCG endorsed documents and other guidance

Guidance relevant to orphan medical devices is primarily issued by the Medical Device Coordination Group (MDCG), and by EU expert panels for medical devices.

The MDCG is an expert group, established under Article 103 of Regulation (EU) 2017/745 on medical devices and Article 98 of Regulation (EU) 2017/746 on in vitro diagnostic medical devices.  It plays a central role in supporting the consistent application of EU medical device legislation by issuing guidance documents (MDCG guidance) on regulatory and scientific aspects of medical devices, including those intended for rare diseases.

In addition, EU expert panels, established under Article 106 MDR, provide scientific and technical advice on specific aspects of medical devices. These panels are organised by the European Commission, with administrative support from the European Medicines Agency (EMA).

The main instruments supporting the development and evaluation of orphan medical devices therefore include:

• MDCG guidance documents, which interpret regulatory requirements and provide practical recommendations;
• expert panel consultations, including the procedure described in Article 61(2) MDR, which allows manufacturers to seek early advice on their clinical development strategy.

 For orphan medical devices, these instruments are particularly relevant in relation to:

• Clinical evaluation;
• Equivalence assessment;
• Clinical investigations;
• Post-market clinical follow-up (PMCF);
• Device classification.

Through these mechanisms, the EU regulatory framework helps manufacturers, notified bodies and competent authorities address challenges associated with small patient populations, limited clinical data and innovative medical technologies.

More information:

Guidance – MDCG endorsed documents and other guidance

Medical Devices – Expert Panels

Several policy initiatives, pilot programmes, and research funding mechanisms have been introduced in recent years to address the specific challenges associated with devices intended for small patient population and to support their development and market access, including:

• Regulatory advice programmes (expert panel pilot). A pilot programme launched by EMA and concluded in 2025 provided free scientific advice from EU medical device expert panels to selected manufacturers and notified bodies on the orphan device status and the data needed for their clinical evaluation. The pilot focused in particular on devices intended to treat life-threatening conditions or conditions that could cause permanent impairment of a body function, devices intended for children, and novel devices with potential major clinical benefit. The initiative aimed to establish a long-term process for orphan device support.
• Research funding for clinical studies (Horizon Europe). The focus of this topic is on multinational clinical studies of orphan devices and/or of highly innovative (“breakthrough”) devices, including digital and Artificial Intelligence (AI) based tools and techniques. Developers of such devices often face challenges to generate clinical data in the pre-market phase in a timely manner. Time and costs of clinical data collection can adversely affect public health by significantly delaying the availability of devices. Many devices are used off-label to respond to a medical unmet medical need resulting from the lack of approved and adequately studied devices for patients with rare diseases or small patient populations. Clinical development strategies for implementing multinational clinical studies have the potential to offer improved efficiency and to reach larger patient samples. Challenges may arise from the potential uncertainty regarding how regional disparities in regulatory, clinical, business, ethical and cultural practices may affect study design, conduct, data interpretation and various other outcomes. This topic targets those challenges by supporting multinational studies aiming to gather pre- or post-market clinical data to demonstrate the device’s safety and performance.
• Innovation support initiatives for breakthrough devices. EU institutions are also exploring broader regulatory support mechanisms for innovative medical technologies, including orphan devices. These initiatives aim to accelerate access to highly innovative devices addressing unmet medical needs, which often overlap with rare disease applications.

At the legislative level, recent policy discussions have also reflected a growing recognition of the need for more proportionate regulatory approaches. In particular, on 16 December 2025, the European Commission (EC) proposed a targeted revision of the Medical Devices Regulations (MDR and IVDR) aimed at simplifying and modernising the regulatory framework.

The proposal includes measures that may indirectly support orphan or “niche” devices, such as:

• Adaptive pathways for breakthrough innovation and orphan or “niche” devices, intended to improve the attractiveness of the EU regulatory system for highly innovative technologies;
• Flexible clinical evidence to include peer-reviewed scientific literature and non-clinical data (e.g., in silico, bench testing) in the definition of “clinical data” enhancing the likelihood to fulfil the requirements;
• More proportionate and targeted conformity assessment procedures, especially for low- and medium-risk devices and devices intended for small patient populations, including rare disease and paediatric patients;
• Simplification and digitalisation of regulatory procedures to make the system more efficient and predictable.

Together, these initiatives and policy developments aim to facilitate evidence generation, strengthen regulatory dialogue, and improve access to medical devices for patients with rare diseases and small patient populations.

 More information:

EMA – Expert panel support for orphan medical devices

EMA – New pilot programme to support orphan medical devices

EMA – Medical device expert panels and breakthrough device initiatives

Horizon Europe call on multinational clinical studies for orphan and breakthrough devices

European Commission – Medical devices – Sector – New Regulations