ArticleOrphanet journal of rare diseases2021
Cost-of-illness studies in rare diseases: a scoping review.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Employment and work ability in individuals living with rare diseases: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review.PharmacoEconomics · 2024Pooled it
- Generalized Pustular Psoriasis: A Cost-of-Illness and Health-Related Quality of Life Study in Italy.PharmacoEconomics - open · 2026Article
- The rare disease tree: adolescent voices, family narratives, and health professionals' views in Greece.European journal of pediatrics · 2026Article
- Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Quality of Life and Financial Burden in Duchenne Muscular Dystrophy in Greece: Insights into Health System Performance in the Post-Pandemic Context.Healthcare (Basel, Switzerland) · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- Economic Burden of Haemophilia from a Societal Perspective: A Scoping Review.PharmacoEconomics - open · 2025Review
- Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers.Kidney international reports · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Caregiver-Reported Economic Impacts of Pediatric Rare Diseases-A Scoping Review.Healthcare (Basel, Switzerland) · 2024Article
- Scoping Review of Economic Analyses of Rare Kidney Diseases.Kidney international reports · 2024Article
- Critical Analysis of Cytoplasmic Progression of Inflammatory Signaling Suggests Potential Pharmacologic Targets for Wound Healing and Fibrotic Disorders.Biomedicines · 2024Review
- Economic burden and health-related quality of life in patients with epidermolysis bullosa in Spain.Orphanet journal of rare diseases · 2024Article
- Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades.Orphanet journal of rare diseases · 2024Article
- Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium).Pediatric rheumatology online journal · 2024Article
- Economic burden of psoriasis in Southern Iran in 2022.Archives of public health = Archives belges de sante publique · 2024Article
- A cost-of-illness study of Behçet syndrome in Italy.The European journal of health economics : HEPAC : health economics in prevention and care · 2024Review
- Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.Skin health and disease · 2024Article
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 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases.
methodsWe searched papers published in English in PubMed from January 2007 to December 2018. We selected cost-of-illness studies on rare diseases defined as those with prevalence lower than 5 per 10,000 cases. Studies were selected by one researcher and verified by a second researcher. Methodological characteristics were extracted to develop a narrative synthesis.
resultsWe included 63 cost-of-illness studies on 42 rare diseases conducted in 25 countries, and 9 systematic reviews. Most studies (94%) adopted a prevalence-based estimation, where the predominant design was cross-sectional with a bottom-up approach. Only four studies adopted an incidence-based estimation. Most studies used questionnaires to patients or caregivers to collect resource utilisation data (67%) although an important number of studies used databases or registries as a source of data (48%). Costs of lost productivity, non-medical costs and informal care costs were included in 68%, 60% and 43% of studies, respectively.
conclusionThis review found a paucity of cost-of-illness studies in rare diseases. However, the analysis shows that the cost-of-illness studies of rare diseases are feasible, although the main issue is the lack of primary and/or aggregated data that often prevents a reliable estimation of the economic burden.
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.