Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients

NCT05056636 | Unknown

• 1 other identifier: GZ201711687
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease

Keywords

high risk screening; Chronic kidney disease

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Characterization of gene mutation pattern of Fabry patients with CKD in Taiwan

  48 months

Interventions

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

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

2000 Chronic Kidney Disease patient

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Chang Gung Memorial Hospital: lead

Study Sites (1)

Chang Gung Memory Hospital

Kaohsiung City, Taiwan

RECRUITING

MeSH Terms

Conditions

Fabry Disease; Renal Insufficiency, Chronic

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Chien-Hsing Wu

  Chang Gung Memory Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chien-Hsing Wu, MD

CONTACT

+886975056082; chienhsingwu@gmail.com

Yichun Lin

CONTACT

lovestar0516@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Division of Nephrology, Department of Internal Medicine, Kaohsiung Chung Gung Memorial Hospital

Study Record Dates

• First Submitted: August 31, 2021
• First Posted: September 24, 2021
• Study Start: June 1, 2018
• Primary Completion: October 31, 2022
• Study Completion: December 31, 2022
• Last Updated: September 24, 2021

Record last verified: 2021-09

Locations

TW (1)