An observational study in Fabry Disease, sponsored by Chang Gung Memorial Hospital. Status unknown at 1 site in Taiwan. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2021-09-24.
Sponsored by Chang Gung Memorial Hospital · Observational
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.
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's planned enrollment of 2,000 is above the median of 100 across 123 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →Chang Gung Memorial Hospital is the lead sponsor of 1,064 studies on the registry; 235 are open to participants now.
Counted across the registry records on this site, refreshed daily.
2000 Chronic Kidney Disease patient
Exclusion Criteria:
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.
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.
Time frame: 48 months
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
Time frame: 48 months
This study is status unknown, as verified in Sep 2021. You cannot join it, but the record below documents what was studied.
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Chang Gung Memorial Hospital