Survival of patients with rare diseases: a population-based study in Tuscany (Italy).

ABSTRACT:

Background

Rare 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.

Methods

Cases 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

SUBMITTER: Gorini F 

PROVIDER: S-EPMC8201697 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature