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Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients

NCT05056636 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 2000

Last updated 2021-09-24

No results posted yet for this study

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.

Conditions

Interventions

DIAGNOSTIC_TEST

Plasma α-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.

Screening Visit 1: 1. Male patient will first screened by enzymatic assay (Cutoff: 1.3 μM /hr) 2. 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.

Sponsors & Collaborators

  • Chang Gung Memorial Hospital

    lead OTHER

Principal Investigators

  • Chien-Hsing Wu · Chang Gung Memory Hospital

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-06-01
Primary Completion
2022-10-31
Completion
2022-12-31

Countries

  • Taiwan

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05056636 on ClinicalTrials.gov