ArticleOrphanet journal of rare diseases2021
Survival of patients with rare diseases: a population-based study in Tuscany (Italy).
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 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Global insight into rare disease and orphan drug definitions: a systematic literature review.BMJ open · 2025Pooled it
- [Analysis of the Incidence and Trends of Rare Diseases in the Republic of Korea in 2022].Jugan geon-gang gwa jilbyeong · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
- Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Applied health economics and health policy · 2025Article
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial.Therapeutic advances in neurological disorders · 2025Article
- Editorial: Rare diseases: from basic science to clinical practice and public health.Frontiers in pediatrics · 2025Article
- "In God We Trust": An Exploratory Study of the Associations Between Religiosity and the Caregiving Experiences of Parents of Children with Rare Diseases in Poland.Journal of religion and health · 2024Article
- Perry Disease: Current Outlook and Advances in Drug Discovery Approach to Symptomatic Treatment.International journal of molecular sciences · 2024Review
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All Caregivers the Same? A Focus on Life-Limiting Rare Diseases.Journal of clinical medicine · 2024Article
- Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.JAMA network open · 2024Article
- Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.Human mutation · 2024Review
- [Rare diseases in anesthesia : Knowledge mining and core points of perioperative anesthesiological care].Die Anaesthesiologie · 2023Article
- Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.Orphanet journal of rare diseases · 2023Article
- Rare diseases: why is a rapid referral to an expert center so important?BMC health services research · 2023Article
- Characteristics and factors associated with mortality due to rare diseases in Chile, 2002-2017Biomedica : revista del Instituto Nacional de Salud · 2022Article
- Article
- Healthcare Burden of Rare Diseases: A Population-Based Study in Tuscany (Italy).International journal of environmental research and public health · 2022Article
- Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study.Frontiers in pharmacology · 2022Article
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6 authors.
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Abstract
backgroundRare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health issue globally. There are still limited data on RD burden due to the paucity of large population-based epidemiological studies. The aim of this research was to provide survival estimates of patients with a RD residing in Tuscany, Italy.
methodsCases collected in the Rare Diseases Registry of Tuscany with diagnosis between 1st January 2000 and 31th December 2018 were linked to the regional health databases in order to retrieve information on mortality of all subjects. Survival at 1, 5 and 10 years from diagnosis with 95% confidence intervals (CI) was estimated by sex, age class, nosological group and subgroup using the Kaplan-Meier method. The effect of sex, age and period of diagnosis (years 2000-2009 or 2010-2018) on survival was estimated using Cox proportional hazards regression.
resultsSurvival at 1, 5 and 10 years from diagnosis was 97.3%, 88.8% and 80.8%, respectively. Respiratory diseases and peripheral and central nervous system disorders were characterized by the lowest survival at 5 and 10 years. Despite a modest higher prevalence of RDs among females (54.0% of the total), male cases had a significant increased risk of death (hazard ratio, HR 1.48, 95% CI 1.38-1.58). Cases diagnosed during 2010-2018 period had a risk of death significantly lower than those diagnosed during 2000-2009 (HR 0.81, 95% CI 0.82-0.96), especially for immune system disorders (HR 0.48, 95% CI 0.26-0.87), circulatory system diseases (HR 0.61, 95% CI 0.45-0.84) and diseases of the musculoskeletal system and connective tissue (HR 0.64, 95% CI 0.49-0.84).
conclusionsAn earlier diagnosis as well as the improvement in the efficacy of treatment resulted in a decreased risk of death over the years for specific RDs. The linkage between a population-based registry and other regional databases exploited in this study provides a large and accurate mass of data capable of estimating patients' life-expectancy and increasing knowledge on the collective burden of RDs.
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