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

National Cheng Kung University Hospital

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.

Study Overview

• Status: Completed
• Conditions: Rare Diseases; Health Care Utilization; Morality; Morbidity; Comorbidities and Coexisting Conditions; Epidemiology
• Intervention / Treatment: Other: longitudinal observational study

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.

• Study Type: Observational
• Enrollment (Actual): 5000

Contacts and Locations

Study Locations

• Taiwan
  • Tainan, Taiwan
    • Department of Family Medicine, National Cheng Kung Univ Hosp

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The rare disease patients are validated in the Taiwan catastrophic illness certification.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Familial Amyloidotic Polyneuropathy; The Familial Amyloidotic Polyneuropathy patients are validated in the catastrophic illness certification.	Other: longitudinal observational study; longitudinal observational study
Osteogenesis imperfecta; The Osteogenesis imperfecta patients are validated in the catastrophic illness certification.	Other: longitudinal observational study; longitudinal observational study
(Acute Hepatic) Porphyria; The (Acute Hepatic) Porphyria patients are validated in the catastrophic illness certification.	Other: longitudinal observational study; longitudinal observational study

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: National Cheng-Kung University Hospital
• Investigators: Study Director: Chih-Hsing Wu, MD, National Cheng Kung University

Study record dates

Study Major Dates

• Study Start (Actual): December 9, 2020
• Primary Completion (Actual): December 31, 2021
• Study Completion (Actual): April 30, 2022

Study Registration Dates

• First Submitted: May 2, 2022
• First Submitted That Met QC Criteria: May 4, 2022
• First Posted (Actual): May 10, 2022

Study Record Updates

• Last Update Posted (Actual): April 4, 2023
• Last Update Submitted That Met QC Criteria: March 31, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Rare Diseases
• Other Study ID Numbers: Taiwan rare diseases

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No