Evidence map›Paper›PMID 41729477›Full record

ArticleEuropean geriatric medicine2026

Aging and rare diseases: from epidemiology to a call to action.

Monica Mazzucato, Giulia Fanton, Andrea Vianello, Cinzia Minichiello, Laura Visonà Dalla Pozza, Ema Toto, Laura Pastori, Chiara Ceolin, Marina De Rui, Alessandra Coin and 2 more

Abstract read
In one paragraph

Article in European geriatric medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Monica MazzucatoRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy. monica.mazzucato@unipd.it.ORCID http://orcid.org/0000-0001-6523-5458
Giulia FantonRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy.
Andrea VianelloDepartment of Child and Maternal Health, Padua University, Padua, Italy.
Cinzia MinichielloRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy.
Laura Visonà Dalla PozzaRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy.
Ema TotoRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy.
Laura PastoriRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy.
Chiara CeolinGeriatrics Division, Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Marina De RuiGeriatrics Division, Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Alessandra CoinGeriatrics Division, Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Giorgio PerilongoRare Diseases Coordinating Centre, Padua University Hospital, Veneto Region, Padua, Italy.
Giuseppe SergiGeriatrics Division, Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimAging of the general population, advances in diagnostic and therapeutic strategies, and care improvements are making rare diseases (RDs) an emerging phenomenon in the geriatric population. This study aims to provide a snapshot of the growing population of older RD patients using population-based data from the Veneto region rare disease registry (VRRDR), Italy.

methodsWe report the number of patients diagnosed in old age and the number of those transitioned from adulthood into old age, estimating the prevalence of older RD patients as of 31 December 2022. Finally, we analyzed the composition of their therapeutic plans.

resultsDuring the study period, 8975 patients received an RD diagnosis after 65 years of age, while 4214 patients diagnosed in their childhood or adulthood experienced the transition to old age. On 31 December 2022, there were 9508 patients aged 65 years or more residing in the study area, 20.8% of all Veneto's RD patients. The most common groups of RDs in older patients are systemic or rheumatologic, neurologic, and skin diseases, affecting 27%, 25%, and 9% of the monitored geriatric population, respectively. Among prevalent cases, 1519 patients older than 65 years had a therapeutic plan related to their rare condition. Specifically, the most prescribed drugs were those affecting the nervous system (27.8%), the alimentary tract and metabolism (12.8%), and the antineoplastic and immuno-modulating agents (11.6%).

conclusionsAs older patients represent a growing number in the RD population, geriatricians and general practitioners should be involved in RD care and training programs. Further studies are needed to determine the unmet care needs of older RD patients in order to design health policies able to address the peculiar challenges posed by this group of patients emerging within the RD population.

Indexed as

AgingRare DiseasesAdolescentAdultAgedAged, 80 and overChild, PreschoolFemaleHumansItalyMalePrevalenceRegistriesAgingCare transitionEpidemiologyORPHAcodesRare diseaseRegistry

Identifiers

PMID41729477
PMCPMC13109167

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