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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05056636
Other study ID # GZ201711687
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date June 1, 2018
Est. completion date December 31, 2022

Study information

Verified date September 2021
Source Chang Gung Memorial Hospital
Contact Chien-Hsing Wu, MD
Phone +886975056082
Email chienhsingwu@gmail.com
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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.


Recruitment information / eligibility

Status Recruiting
Enrollment 2000
Est. completion date December 31, 2022
Est. primary completion date October 31, 2022
Accepts healthy volunteers No
Gender All
Age group 18 Years and older
Eligibility 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 Design


Intervention

Diagnostic Test:
Plasma a-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.
Screening Visit 1: Male patient will first screened by enzymatic assay (Cutoff: 1.3 µM /hr) Female patient will first screened by lyso-GB3 (Cutoff: > 5ng/ml) Screening Visit 2: If both male and female who has deficient enzymatic level (Cutoff: 1.3 µM /hr) or lyso-GB3 level (Cutoff: > 5ng/ml) respectively, those patients will be confirmed whether they have carried Fabry Disease causing mutation by whom GLA genetic sequencing.

Locations

Country Name City State
Taiwan Chang Gung Memory Hospital Kaohsiung

Sponsors (1)

Lead Sponsor Collaborator
Chang Gung Memorial Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type Measure Description Time frame Safety issue
Primary Positive screening rate of Fabry Disease patient among CKD population Identify the prevalence rate of Fabry disease in patients with CKD including dialysis in Taiwan. 48 months
Secondary Characterization of gene mutation pattern of Fabry patients with CKD in Taiwan Identify what gene mutation(s) is(are) significant associated with Fabry patients with CKD in Taiwan 48 months
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