- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05698901
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
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.
Study Overview
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Charles Jia-Yin Hou
- Phone Number: +886905960500
- Email: jiayinhou@gmail.com
Study Locations
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Taipei, Taiwan
- Recruiting
- Charles Jia-Yin Hou
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Contact:
- Charles Jia-Yin Hou
- Phone Number: +886905960500
- Email: jiayinhou@gmail.com
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
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Group A
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Group B
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The treatment is following local reimbursement criteria and judge by physician
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
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To establish a comprehensive scoring algorithm to evaluate the disease progression status and potential indicators in response to treatment outcome mainly from imaging or biomarkers.
Time Frame: 3 years
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3 years
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Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
(a)To figure out which biomarker and imaging data is statistically significant associated with disease progression status in patients without treatment.
Time Frame: 3 years
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3 years
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To further analyze and confirm from (a) that treatment outcomes (biomarkers/imaging parameters) of patient exposed to agalsidase beta therapy were statistically significant.
Time Frame: 3 years
|
3 years
|
Collaborators and Investigators
Sponsor
Investigators
- Study Chair: Charles Jia-Yin Hou, Mackay Memorial Hospital
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Fabry Disease
Other Study ID Numbers
- 22CT026be
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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Clinical Trials on Fabry Disease
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CENTOGENE GmbH RostockCompletedFabry Disease | Anderson-Fabry Disease | Fabry´s DiseaseArgentina, Belgium, Croatia, Czechia, Denmark, France, Germany, United Kingdom
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Wuerzburg University HospitalTakedaEnrolling by invitationLysosomal Storage Diseases | Fabry Disease | Fabry Disease, Cardiac Variant | HCM - Hypertrophic Cardiomyopathy | Anderson Fabry DiseaseGermany
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University Hospital, RouenUnknownAnderson-Fabry DiseaseFrance
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Amicus Therapeutics France SASActive, not recruitingFabry Disease | Anderson Fabry DiseaseFrance
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Sangamo TherapeuticsEnrolling by invitationFabry Disease | Fabry Disease, Cardiac VariantUnited States, Australia, United Kingdom
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University of CambridgeSanofiRecruiting
-
Academisch Medisch Centrum - Universiteit van Amsterdam...RecruitingFabry Disease | Fabry Disease, Cardiac VariantNetherlands
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Taipei Veterans General Hospital, TaiwanSanofiUnknownFabry Disease, Cardiac Variant
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Shaare Zedek Medical CenterJohannes Gutenberg University MainzCompleted
-
Wolfson Medical CenterUnknownFabry Disease in the Young StrokeIsrael
Clinical Trials on Agalsidase beta
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Amicus TherapeuticsCompletedFabry DiseaseJapan, Taiwan, Turkey, United States, Brazil
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ISU Abxis Co., Ltd.RecruitingFabry DiseaseKorea, Republic of
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Genzyme, a Sanofi CompanyCompletedFabry DiseaseUnited States, France, Netherlands, Puerto Rico, United Kingdom
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Genzyme, a Sanofi CompanyCompleted
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Ulla Feldt-RasmussenCompleted
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Genzyme, a Sanofi CompanyWithdrawn
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Bio Sidus SACompleted
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Genzyme, a Sanofi CompanyCompleted
-
Genzyme, a Sanofi CompanyCompletedFabry DiseaseUnited States, United Kingdom, Canada, Hungary, Poland, Czech Republic
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Amicus TherapeuticsCompletedFabry DiseaseFrance, Austria, United States, Belgium, Japan, United Kingdom, Denmark, Brazil, Australia, Italy