Details

Autor(en) / Beteiligte

• Valent, Francesca, MD
• Deroma, Laura, MD
• Moro, Alessandro, MD
• Ciana, Giovanni, MD
• Martina, Paolo, MSc
• De Martin, Fabio, MSc
• Michelesio, Elisa, MSc
• Da Riol, Maria Rosalia, MD
• Macor, Daniela, RN
• Bembi, Bruno, MD

Titel

Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia

Ist Teil von

• Value in health, 2019-09, Vol.22 (9), p.1003-1011

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2019

Quelle

Applied Social Sciences Index & Abstracts (ASSIA)

Beschreibungen/Notizen

• AbstractBackgroundThe lack of epidemiological and clinical data is a major obstacle in health service planning for rare diseases. Patient registries are examples of real-world data that may fill the information gap. ObjectiveWe describe the Rare Disease Registry of the Friuli Venezia Giulia region of Italy and its potential for research and health planning. MethodsThe Rare Disease Registry data were linked with information on mortality, hospital discharges, ambulatory care, and drug prescriptions contained in administrative databases. All information is anonymous, and data linkage was based on a stochastic key univocal for each patient. Average annual costs owing to hospitalizations, outpatient care, and medications were estimated. ResultsImplementation of the Registry started in 2010, and 4250 participants were registered up to 2017. A total of 2696 patients were living in the region as of January 1, 2017. The overall raw prevalence of rare diseases was 22 per 10,000 inhabitants, with higher prevalence in the pediatric population. The most common disease groups were congenital malformations, chromosomal and genetic syndromes, and circulatory and nervous diseases. In 2017, 30 patients died, 648 were hospitalized, and 2355 received some type of ambulatory care. The total annual estimated cost was approximately €6.5 million, with great variability in the average patient cost across diseases. ConclusionsThe possibility of following the detailed real-world care experience of patients with each specific rare disease and assessing the costs related to each step in their care path represents a unique opportunity to identify inefficiencies, optimize care, and reduce waste of resources.