Estimating cumulative point prevalence of rare diseases
Analysis of the Orphanet database
Bibliographic Data
| ID | 23370367 |
|---|---|
| Authors | Stéphanie Nguengang Wakap (0000-0002-3348-3606, Inserm, corresponding author), Deborah M Lambert (0000-0003-0967-0476, Mater Misericordiae University Hospital), Annie Olry (Inserm), Charlotte Rodwell (0000-0001-9057-1314, Inserm), Charlotte Gueydan (Inserm), Valérie Lanneau, Valérie Serrière-Lanneau (0000-0002-9344-1707, Inserm), Daniel Murphy (0000-0001-8644-3707), Daniel N Murphy (0000-0002-8004-6505, Mater Misericordiae University Hospital), Yann Le Cam (European Organisation for Rare Diseases), Ana Rath (0000-0003-4308-6337, Inserm) |
| Year | 2020 |
| Volume | 28 |
| Issue | 2 |
| Pages | 165-173 |
| Publication date | 2020-02-01 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | European Journal of Human Genetics (JOURNAL) |
| Journal identifiers | ISSN: 1018-4813 • E-ISSN: 1476-5438 |
| Publisher | Springer Science and Business Media LLC (PUBLISHER) |
| DOI | 10.1038/s41431-019-0508-0 |
| PMID | 31527858 |
| OpenAlex | W2973267506 |
| Language | EN |
| Citations received | 61 |
| References cited | 18 |
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the ‘Orphanet Epidemiological file’ ( http://www.orphadata.org/cgi-bin/epidemio.html ). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of n = 149) diseases in the most common prevalence range (1–5 per 10 000). Consequently national definitions of ‘Rare Diseases’ (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5–5.9%, which equates to 263–446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.
Disease · Environmental health · Pathology · Population · Prevalence · Public health · Rare disease · Cystic Fibrosis Research Advances · Demography · Epidemiology · Genomics and Rare Diseases · Immunodeficiency and Autoimmune Disorders · Medicine · Pediatrics
Rare diseases
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| Unique citing works | 61 |
|---|---|
| Citations per year | 10,17 |
| Citation span | 2020 - 2026 (7) |
| Citation velocity | current |
| Highly cited | No |
| Citation types | Neutral: 55 |