ArticleJournal of patient-reported outcomes2021
Measuring health-related quality of life in patients with rare disease.
Article in Journal of patient-reported outcomes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 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
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Assessing the effectiveness of measurement scales in evaluating the health-related quality of life in rare disease patients after treatment: a systematic review.Health and quality of life outcomes · 2024Pooled it
- Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2023Pooled 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
- Real world data from the Heidelberg Registry of Chronic Singultus (HeReChroS).Orphanet journal of rare diseases · 2026Article
- Quality of life and care experiences in a US multi-institutional neuroendocrine tumor cohort.Journal of the National Cancer Institute · 2026Article
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study.Nutrients · 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
- 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
- Comparing disease burden of rare diseases with common medical conditions in china: evidence from a national online health survey in 2022.Archives of public health = Archives belges de sante publique · 2026Article
- Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia.Annals of clinical and translational neurology · 2026Observational
- A Qualitative Examination of the Content Validity of the EQ-5D-5L and EQ-5D-Y-3L in Adult and Paediatric Patients With Duchenne Muscular Dystrophy.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Exploring patient-reported outcomes and morbidity burden of patients with VEXAS syndrome: a scoping review.EClinicalMedicine · 2025Review
- Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.Journal of child neurology · 2025Article
- Quality of life among children and young adults with rare diseases. A parental perspective.European journal of pediatrics · 2025Article
- Health-related quality of life and productivity burden for non-professional caregivers of adults with rare diseases: a real-world study.Orphanet journal of rare diseases · 2025Article
- Experience of illness with chronic singultus: a qualitative interview study.Orphanet journal of rare diseases · 2025Article
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- A Qualitative Approach to Quality of Life in Fibrous Bone Dysplasia /McCune Albright Syndrome: Looking Beyond Quantitative Analysis.Calcified tissue international · 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
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere has been a growing emphasis on health-related quality of life (HRQoL) as an important outcome in rare disease drug development, although its assessment may be useful outside the drug development context, including in clinical applications or natural history studies. Central to assessing quality of life in health research is utilizing outcome measures that capture symptoms and impacts of the disease and treatment that are important and relevant to patients. Identifying and implementing valid and reliable tools to measure HRQoL in rare diseases poses unique challenges that often require creative solutions. MAIN BODY: In this commentary, we explore some of the challenges in HRQoL assessment in rare disease, propose solutions, and consider regulatory issues. Some of the solutions discussed entail the use of item banks, adapting existing measures from phenotypically similar disease contexts, use of multi-domain measurement indices, and adapting methods for assessing content validity of existing measures. Current regulatory considerations are discussed and resources outlined.
conclusionQuality of life may be the most important endpoint for patients with rare diseases, and the challenges of valid assessment require effort and innovative thinking specific to each context to improve measurement and clinical outcomes.
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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.