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Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT05056636
Recruitment Status : Recruiting
First Posted : September 24, 2021
Last Update Posted : September 24, 2021
Information provided by (Responsible Party):
Chien-Hsing Wu, Chang Gung Memorial Hospital

Brief 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.

Condition or disease Intervention/treatment
Fabry Disease Diagnostic Test: Plasma α-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients
Actual Study Start Date : June 1, 2018
Estimated Primary Completion Date : October 31, 2022
Estimated Study Completion Date : December 31, 2022

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Diseases

Intervention Details:
  • 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.

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
2000 Chronic Kidney Disease patient

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT05056636

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Contact: Chien-Hsing Wu, MD +886975056082
Contact: Yichun Lin

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Chang Gung Memory Hospital Recruiting
Kaohsiung, Taiwan
Contact: Yichun Lin   
Sponsors and Collaborators
Chang Gung Memorial Hospital
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Principal Investigator: Chien-Hsing Wu Chang Gung Memory Hospital
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Responsible Party: Chien-Hsing Wu, Director, Division of Nephrology, Department of Internal Medicine, Kaohsiung Chung Gung Memorial Hospital, Chang Gung Memorial Hospital Identifier: NCT05056636    
Other Study ID Numbers: GZ201711687
First Posted: September 24, 2021    Key Record Dates
Last Update Posted: September 24, 2021
Last Verified: September 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Chien-Hsing Wu, Chang Gung Memorial Hospital:
high risk screening
Chronic kidney disease
Additional relevant MeSH terms:
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Fabry Disease
Kidney Diseases
Renal Insufficiency, Chronic
Urologic Diseases
Renal Insufficiency
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders