Short guide on patient partnership in rare disease research projects

Meaningful patient partnership should begin during protocol development rather than after the study design has been finalised. Early involvement of patients, caregivers and patient organisations helps ensure that the research addresses outcomes and burdens that matter most to the rare disease community, while also improving the feasibility, acceptability and relevance of the trial.

The Short Guide on Patient Partnerships in Rare Disease Research Projects, developed by the European Joint Programme on Rare Diseases (EJP RD) in collaboration with EURORDIS and patient representatives, provides practical guidance for establishing effective partnerships between researchers and patients throughout the research lifecycle. Although applicable to all types of rare disease research, many of its recommendations are directly relevant to clinical trial protocol development. These include identifying appropriate patient partners, defining roles and expectations, planning communication, ensuring fair recognition of contributions, and avoiding common pitfalls in collaboration.

When developing a clinical trial protocol, patient partners can contribute to:

•  assessing whether the research question addresses an unmet patient need
• reviewing eligibility criteria and study procedures to minimise unnecessary burden
• identifying outcomes that are meaningful to patients, including patient-reported outcomes where appropriate
• improving recruitment and retention strategies
• reviewing participant-facing documents to enhance clarity and accessibility
• anticipating practical barriers that could affect study feasibility

This guide complements methodological and regulatory guidance by providing a practical framework for embedding patient perspectives into the design process, thereby supporting more patient-centered, feasible and impactful rare disease clinical trials.