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

Study Overview
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Brief Summary
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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
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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.

Official Title
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National Cheng Kung University Hospital

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

Intervention / Treatment
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* Other: longitudinal observational study


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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. Exclusion Criteria: The RD patients were diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Osteogenesis imperfecta, and Acute Hepatic Porphyria before 2009.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Familial Amyloidotic Polyneuropathy<br>The Familial Amyloidotic Polyneuropathy patients are validated in the catastrophic illness certification. | Other: longitudinal observational study<br>* longitudinal observational study<br>|
| Osteogenesis imperfecta<br>The Osteogenesis imperfecta patients are validated in the catastrophic illness certification. | Other: longitudinal observational study<br>* longitudinal observational study<br>|
| (Acute Hepatic) Porphyria<br>The (Acute Hepatic) Porphyria patients are validated in the catastrophic illness certification. | Other: longitudinal observational study<br>* longitudinal observational study<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of incidences | 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. | 12 years | 
| Number of prevalence | 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. | 12 years | 
| Number of death | 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. | 12 years | 
| Number of Health Care Utilization | 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. | 12 years |