Rare DiseasesNCT05367115
Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world Evidence
An observational study of Rare Diseases and Epidemiology, run by National Cheng-Kung University Hospital at 1 site in Taiwan.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Epidemiology, Morbidity
- What is being tested?
- longitudinal observational study
- How many people
- 5,000 participants
- Where
- 1 siteTaiwan
- Study dates
- 9 Dec 2020to 30 Apr 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The rare disease patients are validated in the Taiwan catastrophic illness certification.
Who may be able to join
- 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.
Who cannot join
- The RD patients were diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Osteogenesis imperfecta, and Acute Hepatic Porphyria before 2009.
Trial locations and contacts
1 site in 1 country.
Taiwan1 site
Department of Family Medicine, National Cheng Kung Univ Hosp
Tainan
About this study
Official title: 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.
Read the 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
- Being tested
- longitudinal observational study
- Medical subject headings
- Rare Diseases, Patient Acceptance of Health Care
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
longitudinal observational studyOther
longitudinal observational study
| Study group | Role | What they receive |
|---|---|---|
| Familial Amyloidotic Polyneuropathy | The Familial Amyloidotic Polyneuropathy patients are validated in the catastrophic illness certification. Receives: Other: longitudinal observational study | |
| Osteogenesis imperfecta | The Osteogenesis imperfecta patients are validated in the catastrophic illness certification. Receives: Other: longitudinal observational study | |
| (Acute Hepatic) Porphyria | The (Acute Hepatic) Porphyria patients are validated in the catastrophic illness certification. Receives: Other: longitudinal observational study |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 12 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 May 2022
- Study start9 Dec 2020
- Primary completion31 Dec 2021
- Study completion30 Apr 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by National Cheng-Kung University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Ecologic or community
- Time perspective
- Retrospective
- Enrolment
- 5,000 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cheng-Kung University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Chih-Hsing Wu, National Cheng-Kung University Hospital
- Investigators
- Chih-Hsing Wu, MD, Study director, National Cheng Kung University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05367115
- Sponsor's protocol ID
- Taiwan rare diseases
- Status last verified
- Mar 2023
- First submitted
- 2 May 2022
- Last updated
- 4 Apr 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Cheng Kung University Hospital
- ClinicalTrials.gov ID
- NCT05367115
- Acronym / sponsor ID
- Taiwan rare diseases
- Conditions
- Rare Diseases, Epidemiology, Morbidity, Morality, Comorbidities and Coexisting Conditions, Health Care Utilization
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5,000 participants (actual)
- Lead sponsor
- National Cheng-Kung University HospitalUniversity, hospital or other
- Study start
- 9 Dec 2020 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 30 Apr 2022 (actual)
- First posted
- 10 May 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Ecologic or community
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Familial Amyloidotic Polyneuropathy | – | Other: longitudinal observational studyThe Familial Amyloidotic Polyneuropathy patients are validated in the catastrophic illness certification. |
| Osteogenesis imperfecta | – | Other: longitudinal observational studyThe Osteogenesis imperfecta patients are validated in the catastrophic illness certification. |
| (Acute Hepatic) Porphyria | – | Other: longitudinal observational studyThe (Acute Hepatic) Porphyria patients are validated in the catastrophic illness certification. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The rare disease patients are validated in the Taiwan catastrophic illness certification.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- The RD patients were diagnosed with Familial Amyloidotic Polyneuropathy (FAP), Osteogenesis imperfecta, and Acute Hepatic Porphyria before 2009.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| longitudinal observational studylongitudinal observational study | Other | (Acute Hepatic) Porphyria, Familial Amyloidotic Polyneuropathy, Osteogenesis imperfecta |
Primary outcome
Number of incidences
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Apr 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Chih-Hsing Wu, MD study director
National Cheng Kung University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases and Epidemiology, run by National Cheng-Kung University Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of incidences (time frame: 12 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Apr 2023.