Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan

NCT06052800 | Active Not Recruiting

• 2 other identifiers: OBS17349U1111-1287-7177
• Study Type: observational
• Target: 78
• Locations: 1 country
• Sites: 5

Brief Summary

This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female Fabry disease adult patients who carry the GLA IVS4. This study aims to retrospectively and prospectively investigate the disease natural history, clinical manifestations, and the treatment outcomes upon agalsidase beta in Fabry disease (FD) patients carrying the GLA IVS4 mutation from medical records, physician assessments, and patient-reported outcomes.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (2)

• Cohort 1: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients

  through study completion with a minimum of 2 years

• Cohort 2: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients

  up to 1.5 years

Secondary Outcomes (4)

• Change of Left posterior wall thickness (LPWT) as measured by echocardiography

  For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years

• Change of Interventricular septal thickness (IVST) as measured by echocardiography

  For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years

• Change of blood Globotriaosylsphingosine (lyso-Gb3) concentration

  For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years

• Change of left ventricular mass index (LVMI) as measured by echocardiography in ERT-naive patients

  For cohort 3, through study completion with a minimum of 1.5 years

Study Arms (3)

Cohort 1

Patients with Galactosidase Alpha gene (GLA) IVS4 who have already received agalsidase beta treatment

Cohort 2

Patients with GLA IVS4 who will initiate agalsidase beta treatment

Cohort 3

Enzyme replacement therapy (ERT)-naive Fabry disease patients with GLA IVS4

Eligibility Criteria

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

Study Population

FD patients carrying the GLA IVS4 mutation, who are eligible for 1 of the cohorts (1, 2, 3).

You may qualify if:

• \- Provide signed informed consent.
• Cohort 1:
• Male or female Fabry disease patient with documented GLA IVS4 in medical record.
• Age ≥ 18 years old at the time of signing informed consent.
• The maximum proportion of female is 20% of cohort 1.
• Patient who has received agalsidase beta treatment for at least 6 months.
• The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation.
• Cohort 2:
• Male or female Fabry disease patient with documented GLA IVS4 in medical record.
• Age ≥ 18 years old at the time of signing informed consent.
• The maximum proportion of female is 20% of cohort 2.
• Patient who plans to apply for the National Health Insurance Reimbursement for agalsidase beta medication.
• The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation.
• Cohort 3:
• Male or female Fabry disease patients with documented GLA IVS4 mutation in medical record.

You may not qualify if:

• Any condition that, in the opinion of the Investigator, may interfere with patient's participation in the study, such as life expectancy of less than 6 months (e.g. diagnosed with malignancy, CAD)
• Fabry patients who have severe heart disease (NYHA Class IV) or severe myocardial fibrosis per investigator judgement
• Known non-Fabry disease infiltrative cardiomyopathy including amyloidosis
• Known non-GLA genetic (e.g., sarcomeric, metabolic mutations) hypertrophic cardiomyopathy.
• Patients who are receiving any Fabry disease-specific treatment (enzyme replacement therapy, chaperone therapy, substrate reduction therapy, or gene therapy) other than agalsidase beta for Fabry disease
• Pregnancy or suspected pregnancy
• Patient diagnosed with moderate to severe dementia
• Unstable patient condition as judged by investigator (e.g., hypertension, diabetes, and systematic disease)

Sponsors & Collaborators

• Sanofi: lead

Study Sites (5)

Investigational Site Number : 1580004

Taichung, 407219, Taiwan

Location

Investigational Site Number : 1580005

Tainan, 704, Taiwan

Location

Investigational Site Number : 1580001

Taipei, 100, Taiwan

Location

Investigational Site Number : 1580003

Taipei, 104, Taiwan

Location

Investigational Site Number : 1580002

Taipei, 112, Taiwan

Location

MeSH Terms

Conditions

Fabry Disease

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

Study Officials

• Clinical Sciences and Operations

  Sanofi

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 18 Months
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 13, 2023
• First Posted: September 25, 2023
• Study Start: September 13, 2023
• Primary Completion (Estimated): September 10, 2026
• Study Completion (Estimated): September 10, 2026
• Last Updated: May 15, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will share

Locations

TW (5)