MDCG guidance on clinical evidence for orphan IVDs (diagnostic tests for rare conditions)

The Medical Device Coordination Group (MDCG) has published new guidance on clinical evidence for so-called ‘orphan IVDs’. These diagnostic tests are intended for use in rare conditions or in exceptional clinical situations. The Federal Agency for Medicines and Health Products (FAMHP), together with the French ANSM, played a leading role in the development of this guidance.

A balanced framework for orphan IVDs

The new MDCG guidance provides a proportionate regulatory framework for in vitro diagnostic medical devices (IVDs) used in rare conditions or in exceptional circumstances, also known as ‘orphan IVDs’.

Gathering comprehensive clinical evidence for these devices is often particularly challenging. Due to the limited number of patients, positive samples and clinical performance data are often scarce. The guidance acknowledges these challenges and sets out recommendations for demonstrating sufficient clinical evidence.

For example, the guidance describes how non-clinical performance data can be used to support the evaluation and how additional clinical evidence can be gathered in the post-market phase.

Faster access for patients, without compromising on safety

With this guidance, the MDCG aims to ensure that patients have timely access to essential diagnostic tests for rare conditions, whilst maintaining the required standards of safety and performance.

This document is intended to assist developers, notified bodies and competent authorities in the assessment of orphan IVDs and to contribute to a harmonised approach within the European Union.

Belgian-French Presidency

The guidance was developed by a dedicated MDCG task force co-chaired by the FAMHP and the French medicines agency (ANSM). In addition to Belgium and France, other Member States, the European Medicines Agency (EMA), notified bodies and representatives from industry and health institutions contributed to the development of the guidance.

Thanks to this broad collaboration, the document provides a practical and balanced response to the specific challenges faced by developers of diagnostic tests for rare conditions.