ReviewThe patient2021
The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment.
Review in The patient, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 5 of them syntheses that pooled 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.
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.
Who cites it
60 citing papers in PubMed, 5 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities?Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Quality of Measurement Properties in Patient Reported Outcomes Used in Adult Liver Transplant Candidates and Recipients: a Systematic Review.Transplant international : official journal of the European Society for Organ Transplantation · 2025Pooled it
- Measuring Health-Related Quality of Life in Amyotrophic Lateral Sclerosis: A Systematic Review and Conceptual Framework.Neurology · 2024Pooled it
- Patient-reported outcome measures and surgery for Crohn's disease: systematic review.BJS open · 2023Pooled it
- From patient advocacy to patient-driven research: Building active partnerships beginning at the bench to reach the bedside.FEBS open bio · 2026Article
- Innovative Clinical Pharmacology, Modeling, and Simulation Strategies for Accelerating Rare Disease Drug Development.Journal of clinical pharmacology · 2026Review
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Exploring the use of smartphone monitoring for young adults with Tuberous Sclerosis Complex (TSC): a qualitative analysis.Orphanet journal of rare diseases · 2026Article
- Approaches used to model patient and carer health-related quality of life in economic models of rare disease treatments in NICE appraisals.Health and quality of life outcomes · 2026Review
- Patient experience data in regulatory and health technology assessment.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Patient organizations involvement in healthcare: a rapid review and conceptual framework.Globalization and health · 2026Review
- Quality of Life of Patients With Multi-Organ Autoimmune Disease and Its Relationship to Patient-Centered Care: Protocol for a Longitudinal Cohort Study.JMIR research protocols · 2026Article
- Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Development and Preliminary Psychometric Evaluation of the Glycogen Storage Disease Type Ia Functional Assessment Diary (GSD FAD).Patient preference and adherence · 2026Article
- Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.Molecular genetics and metabolism · 2025Article
- HTA Evidence in Rare Diseases: Just Rare or Also Special?PharmacoEconomics · 2025Review
- Pragmatic paradigm for patient-reported outcome measure selection in lymphoma clinical trials: a rapid review study.BMJ open · 2025Review
- Understanding health-related quality of life of informal carers in amyotrophic lateral sclerosis: a scoping review and conceptual framework.Health and quality of life outcomes · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies.
objectiveThis research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs).
methodsA scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized.
resultsOf 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way.
conclusionsPROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.
Indexed as
Identifiers
What OpenQuestion holds
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.