NCT05367115

Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world Evidence

National Cheng Kung University Hospital

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 5,000 (actual)
• Sponsor: National Cheng-Kung University Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This study aims to explore the longitudinal incidence and prevalence trends of selected muscular and bone-related rare diseases, i.e., Familial Amyloidotic Polyneuropathy (FAP), Primary hyperoxaluria, Wilson's disease, Cystic fibrosis, Osteogenesis imperfecta, Porphyria, and Primary Paget disease, and analyze healthcare utilization.

Detailed description

A rare disease (RD) means any disease that affects a small percentage of the population. According to the "Rare Disease and Orphan Drug Act" in 2000, RD is defined as the prevalence of lower than 10,000 people in Taiwan, or with special circumstances, and announced after review by the "Review Committee for Rare Diseases and Orphan Drugs". There are many different causes of RD, such as genetic and infection. Although researchers have made progress in learning how to diagnose, treat, and even prevent a variety of RD, but there is still much to do because most rare diseases have no treatments. Due to the low morbidity rate and fewer numbers of people who suffer from RD, patients have been impacted by a severe pathology and insufficiently recognized, diagnosed, and cured. However, prevalence, healthcare utilization, and economic impacts of rare diseases based on real-world evidence are still unknown in the world, especially in Taiwan. In 2020, there were 226 diseases officially proclaimed as RD and 17,592 patients in Taiwan, and approved 108 orphan drugs and 40 special nutrients for treating those patients to reduce their financial burden.

Conditions

• Rare Diseases
• Epidemiology
• Morbidity
• Morality
• Comorbidities and Coexisting Conditions
• Health Care Utilization

Interventions

Type	Name	Description
OTHER	longitudinal observational study	longitudinal observational study

Timeline

• Start date: 2020-12-09
• Primary completion: 2021-12-31
• Completion: 2022-04-30
• First posted: 2022-05-10
• Last updated: 2023-04-04

Locations

1 site across 1 country: Taiwan