Evidence map›Paper›PMID 42495108›Full record

ReviewEClinicalMedicine2026

Recommendations for the use of clinical outcome assessments in rare disease drug development.

Olalekan Lee Aiyegbusi, Noleen K McCorry, Melanie J Calvert, John Devin Peipert, Samantha Cruz Rivera, Robert Muni-Lofra, Solomon Alexis, Fez Awan, Tom Bailey, Lucinda Billingham and 29 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in EClinicalMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors.

Olalekan Lee AiyegbusiCentre for Patient Reported Outcomes Research, Department of Applied Health Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK.
Noleen K McCorryLifeArc Centre for Acceleration of Rare Disease Trials, Queen's University Belfast, Belfast, UK.
Melanie J CalvertCentre for Patient Reported Outcomes Research, Department of Applied Health Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK.
John Devin PeipertCentre for Patient Reported Outcomes Research, Department of Applied Health Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK.
Samantha Cruz RiveraCentre for Patient Reported Outcomes Research, Department of Applied Health Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK.
Robert Muni-LofraThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle, UK.
Solomon AlexisUniversity of East London, London, UK.
Fez AwanLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Tom BaileyAlexion, AstraZeneca Rare Disease, London, UK.
Lucinda BillinghamLifeArc Centre for Acceleration of Rare Disease Trials, University of Birmingham, Birmingham, UK.
Rosaline CallaghanLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Christine CollinsLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Brooke M CurrieGlaxoSmithKline, Collegeville, PA, USA.
Mel DixonLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Melanie DuddridgeLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
James EnnisLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Linda FredLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Sarah GreenwellLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Christian GriffithsNational Institute for Health and Care Excellence (NICE), Manchester, UK.
Asha HareendranUniversity of Bedfordshire, Luton, UK.
Onyekachukwu A IllohUS Food and Drugs Administration, Silver Spring, MD, USA.
Kerry Leeson-BeeversAlström Syndrome UK, Devon, UK.
Krishna LetchemananAlexion, AstraZeneca Rare Disease, London, UK.
Steven P ListerUnion Chimique Belge (UCB) Pharma SA, Slough, UK.
Christopher McCabeLifeArc Centre for Acceleration of Rare Disease Trials, Queen's University Belfast, Belfast, UK.
Molly McFatrichTakeda Pharmaceutical, Chapel Hill, NC, USA.
Amy Jayne McKnightLifeArc Centre for Acceleration of Rare Disease Trials, Queen's University Belfast, Belfast, UK.
Fiona McLaughlinLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Ramona MoldovanUniversity of Manchester, Manchester, UK.
Lindsey T MurrayCritical Path Institute, Tucson, AZ, USA.
Daniel J O'ConnorAssociation of the British Pharmaceutical Industry (ABPI), London, UK.
Hafiz Oko-OsiBioMarin Pharmaceutical Inc., San Rafael, CA, USA.
Louise OniUCL Centre for Kidney and Bladder Health, London, UK.
Kate M PritchardLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Khadija Rerhou RantellMedicines and Healthcare products Regulatory Agency (MHRA), London, UK.
Volker StraubLifeArc Centre for the Acceleration of Rare Disease Trials, Newcastle University, Newcastle, UK.
Timothy G BarrettLifeArc Centre for Acceleration of Rare Disease Trials, University of Birmingham, Birmingham, UK.
LifeArc Accelerating Rare Disease Trials (ARDT) centreaf
LifeArc Accelerating Rare Disease Trials (ARDT) centre

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

There are over 10,000 rare diseases collectively affecting an estimated 250-450 million people globally. While these diseases are rare individually, their cumulative impact on patients, families, healthcare systems, and society is substantial. The incorporation of clinical outcome assessments (COAs) in clinical trials can facilitate patient-focused drug development and treatment evaluation by generating meaningful evidence on how patients feel and function. This work was conducted in three phases: a targeted literature review (searched Aug 2025; updated Feb 2026), a multistakeholder workshop (online, Sept 2025) and, finally, an online survey to ratify final recommendations (responses by March 3, 2026). Of 43 individuals invited, 35 (81%) attended the virtual workshop: 11 researchers (including clinical trialists); 12 patients/caregivers; seven industry experts; four individuals from regulatory agencies and one HTA expert. All were based in the UK or USA. Across three sessions, the workshop explored stakeholder perspectives on considerations and appropriate methodological approaches to COA assessment for rare disease drug development to facilitate the generation of recommendations for future use. A threshold of at least 70% votes was chosen, a priori, for inclusion in the final set of recommendations. Here, we describe the potential benefits of COAs, summarise the key challenges, and provide recommendations to facilitate their effective and consistent integration in drug development for rare diseases.

Indexed as

Clinical outcome assessmentClinical trialsPatient-focused drug developmentPatient-reported outcomePRORare diseases

Identifiers

PMID42495108
PMCPMC13393705

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.