NCT05698901 Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
| NCT ID | NCT05698901 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Mackay Memorial Hospital |
| Condition | Fabry Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 150 participants |
| Start Date | 2023-09-19 |
| Primary Completion | 2026-09-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 150 participants in total. It began in 2023-09-19 with a primary completion date of 2026-09-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Fabry disease (FD) 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.1 In patients at the fourth to fifth decade, left ventricular hypertrophy occur usually, and myocardial infarction and heart failure develops disease progress. Life-threatening renal, cardiac, and cerebrovascular diseases are added in later decades.2,3 Fabry disease is treatable with enzyme replacement therapy (ERT). Early recognition of symptoms and diagnosis of patients at a potentially reversible stage of the disease is therefore important. To date, plasma Lyso-Gb3 is useful in the diagnosis of Fabry disease. All male with classical Fabry disease could be discerned by an elevated plasma Lyso-GL-3; All adult female patients have elevated plasma Lyso-GL-3 above normal range.4 Other study also indicated that higher lyso-Gb3 concentrations at first visit were associated with a higher event rate in the past. Men with classical FD have higher Lyso-GL-3 values compared with patients with non-classical FD and women along with an increased risk of developing complications, more severe cardiac and renal disease.5 According to a publication from Taiwan society of cariology (TSOC) expert consensus, several cardiac biomarkers including N terminal pro B type natriuretic peptide (NT-proBNP) and cardiac troponin I/T (cTNI/cTNT) have been proposed to be alternative surrogate markers of cardiac involvement in FD.6However, there is no study to analyze the relationship between all these biomarkers including lyso-Gb3 and FD cardiac manifestation or improvement of cardiac damage outcomes under ERT yet. There is a high prevalence of the cardiac variant (IVS4+919G→A) (\~1 in 1600 males) of FD in Taiwan as revealed by newborn screening programs7,8 and patients with idiopathic HCM.9 FD patients with cardiac variant need to fulfill at least two indicators as stated in "cardiac function assessment indicators of Fabry's disease cardiac variant type" with cardiac biopsy confirmed GL3 or lyso-Gb3 lipid accumulation to get local reimbursement for treatment. Cardiac biopsy is an invasive and relative dangerous procedure that some patients would refuse to take this procedure and could not get local reimbursement resulting in delay in treatment. Therefore in the present study the investigators are aiming to identify candidate biomarkers to establish a scoring algorithm for evaluating Fabry disease progression status or treatment response and the investigators could stage patient who with more correlated biomarkers at baseline would have higher risk to develop sever clinical outcome and initiate early therapy.
Eligibility Criteria
Inclusion Criteria: * 18 years or older * Male or female with Fabry disease diagnosed * Presence of any one of following abnormal criteria of either: 1) Cardio-specific Biomarker; 2) Abnormal elevated value of plasma Gb3 or Lyso-Gb3; 3) Electrocardiography (ECG); 4) Cardio-specific Image. * Group A: ERT Treatment naïve Fabry patients * Group B: Agalsidase beta (ERT) exposed or treated Fabry patients * Willing and able to comply with the required clinic visits, study procedures and assessments Exclusion Criteria: * Patient who are unwilling to sign inform consent form
Contact & Investigator
Charles Jia-Yin Hou
STUDY CHAIR
Mackay Memorial Hospital
Frequently Asked Questions
Who can join the NCT05698901 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Fabry Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05698901 currently recruiting?
Yes, NCT05698901 is actively recruiting participants. Contact the research team at jiayinhou@gmail.com for enrollment information.
Where is the NCT05698901 trial being conducted?
This trial is being conducted at Taipei, Taiwan.
Who is sponsoring the NCT05698901 clinical trial?
NCT05698901 is sponsored by Mackay Memorial Hospital. The principal investigator is Charles Jia-Yin Hou at Mackay Memorial Hospital. The trial plans to enroll 150 participants.