ReviewOrphanet journal of rare diseases2017
Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures.
Review in Orphanet journal of rare diseases, 2017. 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 106 papers, 5 of them syntheses that pooled it.
What it found
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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.
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.
Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Who cites it
106 citing papers in PubMed, 5 syntheses or guidelines pooled it, 203 citations in OpenAlex.
- Chronic pain and fatigue in multiple osteochondroma and Ollier disease, a systematic review.BMC musculoskeletal disorders · 2026Pooled it
- Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities?Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease-are patient-centered outcomes our blind spot?Pediatric nephrology (Berlin, Germany) · 2021Pooled it
- Quality of life in primary sclerosing cholangitis: a systematic review.Health and quality of life outcomes · 2021Pooled it
- Evaluating the impact of leniolisib treatment on symptoms and health-related quality of life in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome.Frontiers in immunology · 2026Trial
- Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.The patient · 2020Trial
- A Questionnaire for Assessing User Satisfaction With Mobile Health Apps: Development Using Rasch Measurement Theory.JMIR mHealth and uHealth · 2020Trial
- How to address the challenges of evaluating treatment benefits-risks in rare diseases? A convergent mixed methods approach applied within a Merkel cell carcinoma phase 2 clinical trial.Orphanet journal of rare diseases · 2018Trial
- An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation.Journal of neuromuscular diseases · 2026Article
- Awareness and perceptions of patient and public involvement in rare disease research in Japan: the role of patient advocacy groups and family members.Research involvement and engagement · 2026Article
- Development and Validation of the Idiopathic Multicentric Castleman Disease Symptom Burden Scale (ISBUS): Protocol for an International Multistage Mixed Methods Study.JMIR research protocols · 2026Article
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Strengthening adaptive functioning and participation in the contemporary spinal muscular atrophy paradigm: clinical perspectives and future directions.World journal of pediatrics : WJP · 2026Review
- Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.Molecular genetics and metabolism · 2026Article
- Implicit ethical choices in ultra-rare therapy development: researchers' perspectives on patient selection and communication, therapy value, and accessibility.BMC medical ethics · 2026Article
- Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth.Orphanet journal of rare diseases · 2026Article
- Assessing allocation bias in stratified clinical trials with multi-component endpoints evaluated using the stratified Wei-Lachin test.PloS one · 2026Article
- Investigating food-related behaviors in Smith-Magenis syndrome: tailoring a questionnaire for a rare disease.Journal of rare diseases (Berlin, Germany) · 2026Article
- Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.Neurology. Genetics · 2025Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our ability to evaluate outcomes which genuinely reflect patients' unmet needs, hopes and concerns is of pivotal importance. However, much current clinical research and practice falls short of this objective by selecting outcome measures which do not capture patient value to the fullest. In this Opinion, we discuss Patient-Centered Outcomes Measures (PCOMs), which have the potential to systematically incorporate patient perspectives to measure those outcomes that matter most to patients. We argue for greater multi-stakeholder collaboration to develop PCOMs, with rare disease patients and families at the center. Beyond advancing the science of patient input, PCOMs are powerful tools to translate care or observed treatment benefit into an 'interpretable' measure of patient benefit, and thereby help demonstrate clinical effectiveness. We propose mixed methods psychometric research as the best route to deliver fit-for-purpose PCOMs in rare diseases, as this methodology brings together qualitative and quantitative research methods in tandem with the explicit aim to efficiently utilise data from small samples. And, whether one opts to develop a brand-new PCOM or to select or adapt an existing outcome measure for use in a rare disease, the anchors remain the same: patients, their daily experience of the rare disease, their preferences, core concepts and values. Ultimately, existing value frameworks, registries, and outcomes-based contracts largely fall short of consistently measuring the full range of outcomes that matter to patients. We argue that greater use of PCOMs in rare diseases would enable a fast track to Patient-Centered Care.
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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.