Evidence map›Paper›PMID 40614333›Full record

ArticleEuropean journal of public health2025

Diagnostic delay in rare diseases in the Campania region: addressing ageing, gender disparities, and the "postcode lottery effect" to reduce the patient odyssey.

Chiara Cirillo, Rossella Duraccio, Mario Fordellone, Emanuele Monda, Bruno De Rosa, Chiara De Stasio, Anna Francesca Smimmo, Anna Fusco, Salvatore Rega, Martina Caiazza and 12 more

Abstract read
In one paragraph

Article in European journal of public health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Chiara CirilloInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via Leonardo Bianchi, Naples, 80131, Italy.ORCID 0000-0002-3388-6747
Rossella DuraccioDepartment of Mental, Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Mario FordelloneDepartment of Mental, Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Emanuele MondaInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via Leonardo Bianchi, Naples, 80131, Italy.
Bruno De RosaDepartment of Mental, Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Chiara De StasioCentro di Coordinamento Malattie Rare, Regione Campania, Naples, Italy.
Anna Francesca SmimmoDepartment of Mental, Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID 0009-0002-3877-8398
Anna FuscoCentro di Coordinamento Malattie Rare, Regione Campania, Naples, Italy.
Salvatore RegaCentro di Coordinamento Malattie Rare, Regione Campania, Naples, Italy.
Martina CaiazzaInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via Leonardo Bianchi, Naples, 80131, Italy.
Francesca MarzulloCentro di Coordinamento Malattie Rare, Regione Campania, Naples, Italy.
Raffaele ScarpaCentro di Coordinamento Malattie Rare, Regione Campania, Naples, Italy.
Gioacchino ScaranoInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via Leonardo Bianchi, Naples, 80131, Italy.
Antonio PostiglioneGeneral Directorate of Health, Campania Region, Naples, Italy.
Pietro BuonoGeneral Directorate of Health, Campania Region, Naples, Italy.
Ugo TramaGeneral Directorate of Health, Campania Region, Naples, Italy.
Massimo Di GennaroSoresa Direzione Innovazione e Sanita' Digitale, Naples, Italy.
Giuseppe BorrielloSoresa Direzione Innovazione e Sanita' Digitale, Naples, Italy.
Maria GaldoDepartment of Pharmacy, AORN Ospedali dei Colli-Monaldi Hospital, Naples, Italy.
Barbara MorgilloGeneral Directorate of Health, Campania Region, Naples, Italy.
Paolo ChiodiniDepartment of Mental, Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Giuseppe LimongelliInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via Leonardo Bianchi, Naples, 80131, Italy.

Funding

Piano Nazionale di Ripresa e Resilenza PNRR-MR1-2022_12376635PNRRRare Disease Applicant Institution
6 · The paper itself

Abstract

Our study assessed the time to diagnosis of rare diseases (RDs) in Campania and whether there are determinants of diagnostic delay (DD). Demographic characteristics, date of first medical contact and diagnosis, disease macro-groups, and area of residence of patients were recorded. DD was calculated as the time elapsed (in years) from the onset of symptoms to the RD diagnosis date. Based on the Rare Disease Research Consortium consensus document, a time to diagnosis more than one year was considered DD. A multilevel logistic regression was performed. Seven thousand nine hundred and nine patients were included in the analysis; 47.4% were male. The mean DD was 3.4 years and 46% of patients experienced DD. Predictors of DD were female gender (OR 0.90, 95% CI 0.80-0.98, P < .005), age at diagnosis (OR 1.36, 95% CI 1.27-1.45, P < .001), and province of residence (residence in Naples vs. others; OR 0.80, 95% CI 0.73-0.88, P < .001). Immunological, connective tissue, digestive, genitourinary system diseases, and congenital malformations showed more DD than other disorders. Nearly half of the patients with RD experienced DD. The main determinants of DD were female sex, older age at diagnosis.

Indexed as

Delayed DiagnosisRare DiseasesAdolescentAdultAgedAge FactorsChildChild, PreschoolFemaleHumansInfantItalyMaleMiddle AgedSex FactorsYoung Adult

Identifiers

PMID40614333
PMCPMC12529253

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Registered trials

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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.