National Cheng Kung University Hospital
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 5,000
- 试验地点
- 1
- 主要终点
- Number of incidences
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Ecologic Or Community
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The RD patients were defined as at least two ambulatory care records or one inpatient record in one year with Familial Amyloidotic Polyneuropathy (FAP), Osteogenesis imperfecta, and Acute Hepatic Porphyria between 2009 and 2017.
排除标准
- •The RD patients were diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Osteogenesis imperfecta, and Acute Hepatic Porphyria before 2009.
结局指标
主要结局
Number of incidences
时间窗: 12 years
The number of new cases had diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Primary hyperoxaluria, Wilson's disease, Cystic fibrosis, Osteogenesis imperfecta, Porphyria, and Primary Paget disease during the time of observation from Taiwan's National Health Insurance Research Database.
Number of prevalence
时间窗: 12 years
The number of participants who have had diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Primary hyperoxaluria, Wilson's disease, Cystic fibrosis, Osteogenesis imperfecta, Porphyria, and Primary Paget disease during the time of observation from Taiwan's National Health Insurance Research Database.
Number of death
时间窗: 12 years
The number of participants who have had diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Primary hyperoxaluria, Wilson's disease, Cystic fibrosis, Osteogenesis imperfecta, Porphyria, and Primary Paget disease with death during the time of observation from Taiwan's National Death Registry.
Number of Health Care Utilization
时间窗: 12 years
The health care use from Taiwan's National Health Insurance Research Database in participants who have had diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Primary hyperoxaluria, Wilson's disease, Cystic fibrosis, Osteogenesis imperfecta, Porphyria, Primary Paget disease during the time of observation.
次要结局
未报告次要终点
研究者
Chih-Hsing Wu
Associate Professor
National Cheng-Kung University Hospital