Rare diseases clinical trials toolbox – public resources and main considerations to set up a clinical trial on medicinal products for humans in Europe

The Rare Diseases Clinical Trial Toolbox organizes and makes discoverable existing resources to support the design and conduct of clinical trials in rare diseases.

Aim: Drug development programs in rare diseases face many challenges, such as the scarcity and geographic dispersion of patients, limited natural history data, the need for novel study designs, and sensitive outcome measures.

Over the past years, tools supporting clinical research have been developed in the context of different projects and for diverse purposes. Therefore, they have not yet been structured to encompass the conduct of rare disease (RD) clinical trials as a whole. To address this issue, the European Joint Program for Rare Diseases (EJP RD) has developed the Rare Diseases Clinical Trial Toolbox. This toolbox collates the accumulated knowledge (collectively termed “tools”) generated by projects/organizations into a structured and guided instrument. By structuring and making resources discoverable, we aim to help RD clinical trialists and trial managers.

Methods: We have designed and developed a toolbox structured around the definition of the clinical trial pathway. It is organized into five domains. Each domain describes one or several activities to be considered throughout the clinical trial pathway. Selection criteria were then defined to include existing resources that are relevant to those activities. Rare disease-specific resources are highlighted as such and include those especially relevant to pediatric clinical research.

Results: The current version of the Toolbox includes 121 resources tagged as relevant to any of the 18 activities within the clinical trial pathway. Overall, 60% of all resources are relevant to any clinical trial while 40% are tagged as “rare disease-specific”.

Conclusion: Access to public resources relevant to the development of clinical trials for rare diseases is sometimes challenged by limited awareness and/or the absence of an adequate framework that enables their findability. This Toolbox aims to build a framework supporting the optimal use of existing tools.

publication

Year of publication

2025

Source

Rare Dis Orphan Drugs J. 2025;4:8.

Author

Marta del Álamo , Biljana Zafirova , Martina Esdaile , Sarah Karam , Sabine Klager , Christine Kubiak

You might also be interested in

How careful symptom observation guides the diagnosis of rare diseases.
New international guidance supports decentralised clinical trials, pragmatic designs and the use of real-world data.
November 13 @ 10:00 am - 5:15 pm
On 13 November 2026 in Dublin, Ireland, this event will explore how research, innovation, patient partnership and EU policy can improve rare disease care and strengthen Europe’s life sciences ecosystem.
Ana Rath, Data Services Co-Lead in ERDERA, explains how the consortium is helping researchers and data holders make rare disease data more findable, interoperable and reusable while protecting privacy and keeping data holders in control.