Evidence map›Paper›PMID 29688860›Full record

ReviewOrphanet journal of rare diseases2018

Patient reported outcome measures in rare diseases: a narrative review.

Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin, Melanie Calvert

Registry-linked trialAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04248062 (Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism), which is not on this map. Cited by 132 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
132citing papers in PubMed, 14 pooled it
–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.

NCT04248062 completednot on this mapstarted 2019, after this paper: background citation

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism

TypeobservationalSponsorUniversity Children's Hospital, ZurichRan2019 to 2020Enrolled69ConditionsInborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, PhenylketonuriasArmsSurvey
3 · Its place in the literature

Who cites it

132 citing papers in PubMed, 14 syntheses or guidelines pooled it.

  1. Electronic patient-reported outcome platforms used in hematological cancers: a systematic review.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2026
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  6. Patient-reported outcome measures for cough used in interstitial lung disease: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2025
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  12. Health-related quality of life scores of typically developing children and adolescents around the world: a meta-analysis with meta-regression.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2020
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72 more citing papers are in PubMed but not listed here.

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

8 authors.

Anita SladeCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK. a.l.slade@bham.ac.uk.ORCID 0000-0003-2827-7741
Fatima IsaPublic Health England, Birmingham, UK.
Derek KyteCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK.
Tanya PankhurstCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK.
Larissa KerecukCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK.
James FergusonCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK.
Graham LipkinCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK.
Melanie CalvertCentre for Patient Reported Outcome Research, College of Medical and Dental Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, UK.

Funding

Department of Health PDF-2016-09-009
6 · The paper itself

Abstract

backgroundRare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are used to capture the patient's views about their health status and facilitate our understanding of the impact of these diseases and their treatments on patient's quality of life and symptoms. MAIN TEXT: This review explores some of the current issues around the utilisation of PROMs in rare diseases, including small patient populations and dearth of valid PROMs. Difficulties in validating new or current PROMs for use in clinical trials and research are discussed. The review highlights potential solutions for some of the issues outlined in the review and the implementation of PROMs in research and clinical practice are discussed.

conclusionPatient input throughout the development of PROMs including qualitative research is essential to ensure that outcomes that matter to people living with rare disease are appropriately captured. Given the large number of rare diseases, small numbers of patients living with each condition and the cost of instrument development, creative and pragmatic solutions to PROM development and use may be necessary. Solutions include qualitative interviews, modern psychometrics and resources such as item banking and computer adaptive testing. Use of PROMs in rare disease research and clinical practice offers the potential to improve patient care and clinical outcomes.

Indexed as

Patient Reported Outcome MeasuresRare DiseasesHumansQuality of LifeOutcome assessmentsPatient reported outcome measuresQuality of lifeRare diseasesRare disorders

Identifiers

PMID29688860
PMCPMC5914068

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Registered trials

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.