ArticleOrphanet journal of rare diseases2023
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Pregnancies in women with rare diseases: Selected maternal and perinatal outcomes.Acta obstetricia et gynecologica Scandinavica · 2026Article
- Aging and rare diseases: from epidemiology to a call to action.European geriatric medicine · 2026Article
- A weakly supervised transformer for rare disease diagnosis and subphenotyping from EHRs with pulmonary case studies.NPJ digital medicine · 2026Article
- Bridging data gaps of rare conditions in ICU: a multi-disease adaptation approach for clinical prediction.NPJ digital medicine · 2026Article
- Common features of rare disease patients in the emergency department: a systematised literature review.Orphanet journal of rare diseases · 2025Review
- [Analysis of the Incidence and Trends of Rare Diseases in the Republic of Korea in 2022].Jugan geon-gang gwa jilbyeong · 2025Article
- Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012-2023.Orphanet journal of rare diseases · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.Orphanet journal of rare diseases · 2025Observational
- Review
- Accuracy of information on the underlying cause of death: An analysis in Colombia during the COVID-19 pandemic in 2021.PloS one · 2025Article
- Invisible patients in rare diseases: parental experiences with the healthcare and social services for children with rare diseases. A mixed method study.Scientific reports · 2024Article
- Correction: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.Orphanet journal of rare diseases · 2024Article
- Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.JAMA network open · 2024Article
- Ensuring Stakeholder Feedback in the Design and Conduct of Clinical Trials for Rare Diseases: ISCTM Position Paper of the Orphan Disease Working Group.Innovations in clinical neuroscienceReview
Corrections and comments
- Erratum issued
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on mortality and survival for a substantial group of RD deriving from a population-based registry, which covers the Veneto region in Italy (4.9 million inhabitants).
resultsDuring the study period, 3367 deaths occurred, mainly in males (53.9%), elderly patients (63.5%) and patients with diseases having a reported prevalence of 1-9/100000 (65.6%). When standardizing by age, the mortality ratio was higher in RD patients than in the general population, SMR = 1.93 (95% CI 1.84-2.11), with an observed gender difference, 2.01 (95% CI 1.88-2.29) in females and 1.86 (95% CI 1.73-2.10) in males. The lowest survival rates are experienced by patients with rare neurologic diseases, rare skin diseases and rare systemic or rheumatologic diseases, 58%, 68% and 81%, respectively, after a 15-year observation period. It should be noted that only 18% of patients diagnosed with motor neuron diseases were alive after 15 years from diagnosis.
conclusionsDespite progress in diagnosis, treatment and care in recent years, RD patients globally have higher mortality rates and reduced survival compared to the general population, with specific variations according to gender, age and disease group.
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