- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05056636
Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
It is characterized by severe multi-systemic involvement that leads to major organ failure and premature death in affected men and in some women. The α-Gal A deficiency results in progressive accumulation of un-degraded glycosphingolipids, predominantly globotriaosylceramide (Gb3), within cell lysosomes throughout the body.
In patients at the second or third decade, progressive proteinuria, decline in glomerular filtration rate (GFR), and tubular damage occur usually, and renal failure develops in the fourth decade. Life-threatening renal, cardiac, and cerebrovascular diseases are added in later decades.
In addition to that, Fabry disease patient will eventually face end-stage renal disease (ESRD) which was the most common cause of death in Fabry patients before the development of dialysis and renal transplantation. Thus it is critical to identify Fabry patient as early as possible, before reaching the stage of ESRD.
Additionally, early intervention of enzyme replacement therapy for Fabry Disease patient which will help the patient to preserve a better renal function and benefit from treatment outcome.
Apart from that today there is only one study published from Turkey for Fabry disease screening in CKD patient where they have screened 1453 and found that the overall prevalence of Fabry disease in CKD patient was found to be 0.2% , 3/1453 (in which 0.4% in 656 male, 0.0% in 783 female). However, there was no information available within the Asia region thereby a very low Fabry disease awareness and diagnostic awareness among nephrologist in Taiwan.
Therefore in the present study the investigators are aiming to investigate the prevalence of Fabry disease in the CKD population (CKD stage 1 ~ 5) by conducting the first and largest high risk screening prevalence study among 2,000 CKD patients over 3 years in Taiwan and the investigators hope by doing such a pilot study our data would contribute to a new paradigm of Fabry disease diagnosis in the Asia region.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Chien-Hsing Wu, MD
- Phone Number: +886975056082
- Email: chienhsingwu@gmail.com
Study Contact Backup
- Name: Yichun Lin
- Email: lovestar0516@gmail.com
Study Locations
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Kaohsiung, Taiwan
- Recruiting
- Chang Gung Memory Hospital
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Contact:
- Yichun Lin
- Email: lovestar0516@gmail.com
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Patient age ≥ 18 y/o (No age limit due to cardiac variant Fabry IVS4 in Taiwan symptom of onset could be beyond 60 y/o)
- Patient with confirmed chronic kidney disease (CKD 1~5) diagnosis whose urine protein/creatinine (UPCR) is 150mg/g or above, or urine albumin/creatinine (ACR) is 30mg/g or above.
- Patient who are willing to sign inform consent form
Exclusion Criteria:
- Patient who are unwilling to sign inform consent form
- Patient who received confirmed diagnosis of Fabry Disease
- Patient with known etiology of renal failure diagnosed with renal biopsy.
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Positive screening rate of Fabry Disease patient among CKD population
Time Frame: 48 months
|
Identify the prevalence rate of Fabry disease in patients with CKD including dialysis in Taiwan.
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48 months
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Characterization of gene mutation pattern of Fabry patients with CKD in Taiwan
Time Frame: 48 months
|
Identify what gene mutation(s) is(are) significant associated with Fabry patients with CKD in Taiwan
|
48 months
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Chien-Hsing Wu, Chang Gung Memory Hospital
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Urologic Diseases
- Renal Insufficiency
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Kidney Diseases
- Renal Insufficiency, Chronic
- Fabry Disease
Other Study ID Numbers
- GZ201711687
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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