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

NCT05367115 | Completed

• 1 other identifier: Taiwan rare diseases
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

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

Outcome Measures

Primary Outcomes (4)

• 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

Study Arms (3)

Familial Amyloidotic Polyneuropathy

The Familial Amyloidotic Polyneuropathy patients are validated in the catastrophic illness certification.

Other: longitudinal observational study

Osteogenesis imperfecta

The Osteogenesis imperfecta patients are validated in the catastrophic illness certification.

Other: longitudinal observational study

(Acute Hepatic) Porphyria

The (Acute Hepatic) Porphyria patients are validated in the catastrophic illness certification.

Other: longitudinal observational study

Interventions

longitudinal observational study OTHER

longitudinal observational study

(Acute Hepatic) Porphyria; Familial Amyloidotic Polyneuropathy; Osteogenesis imperfecta

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• The RD patients were diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Osteogenesis imperfecta, and Acute Hepatic Porphyria before 2009.

Sponsors & Collaborators

• National Cheng-Kung University Hospital: lead

Study Sites (1)

Department of Family Medicine, National Cheng Kung Univ Hosp

Tainan, Taiwan

Location

MeSH Terms

Conditions

Rare Diseases; Patient Acceptance of Health Care

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Treatment Adherence and Compliance; Health Behavior; Behavior

Study Officials

• Chih-Hsing Wu, MD

  National Cheng Kung University

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: May 2, 2022
• First Posted: May 10, 2022
• Study Start: December 9, 2020
• Primary Completion: December 31, 2021
• Study Completion: April 30, 2022
• Last Updated: April 4, 2023

Record last verified: 2023-03

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)