ARDT research helps shape future rare disease drug development
The LifeArc Centre for Acceleration of Rare Disease Trials (ARDT) is delighted to celebrate the publication of a significant new paper led by Prof Lee Aiyegbusi from Work Package 2 (WP2) in eClinicalMedicine, part of The Lancet Discovery Science family of journals. The paper,“Recommendations for the use of clinical outcome assessments in rare disease drug development”, brings together expertise from patients, caregivers, researchers, industry representatives, regulators and health technology assessment experts to address one of the most important challenges in rare disease research: ensuring that clinical trials measure outcomes that truly matter to patients.
The publication represents a major achievement for ARDT and reflects our commitment to accelerating the development of better treatments for people living with rare diseases through meaningful patient-centered research.
What does the paper cover?
Clinical outcome assessments (COAs) are tools used to measure how patients feel, function and experience the impact of disease and treatment. These can include patient-reported outcomes, clinician-reported outcomes, observer-reported outcomes, and performance-based outcomes. Despite their importance in capturing patient experience, COAs remain underused in rare disease drug development. To address this gap, the research team conducted a targeted literature review, convened a multi-stakeholder workshop involving patients, caregivers, researchers, medicine regulators, and pharmaceutical industry experts, and developed a set of consensus recommendations for the future use of COAs in rare disease trials.
The paper outlines 11 practical recommendations, including:
- Engaging patients, caregivers and other stakeholders early throughout the drug development process.
- Ensuring outcome measures are relevant, meaningful and fit for purpose.
- Making greater use of existing outcome measurement tools and resources.
- Harnessing digital technologies and innovative approaches to collect and analyse patient data.
- Capturing wider patient experience data alongside traditional clinical trial endpoints.
- Sharing findings with rare disease communities and reporting lessons learned to strengthen future research.
Collectively, these recommendations aim to improve the quality, consistency and impact of outcome measurement in rare disease clinical trials, helping ensure that future therapies are evaluated using evidence that reflects what matters most to patients and families.
Recognition at ISOQOL 2026
Further highlighting the importance of this work, an abstract based on the research has recently been accepted for an Oral Brief Presentation at the 33rd Annual International Society for Quality of Life Research (ISOQOL) Conference, taking place in Prague in October 2026.
This recognition by the international quality of life and outcomes research community is a testament to the relevance and impact of the work being delivered through ARDT and WP2.
A collaborative achievement
The publication also showcases ARDT’s collaborative approach, drawing on the expertise and lived experience of members of the ARDT community, including researchers from Newcastle University, Queen’s University Belfast, and the University of Birmingham, alongside patient and caregiver representatives (including members of the ARDT Lived Experience Advisory Panel) and international stakeholders.
We extend our congratulations to Lee and all co-authors involved in this important piece of research. Their work will help shape the future of patient-focused rare disease drug development and strengthen the evidence base needed to bring effective treatments to rare disease communities more quickly.
Read the paper:here
