Fabry DiseaseNCT06052800

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

An observational study of Fabry Disease, run by Sanofi at 5 sites in Taiwan.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Trial 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. Read more about this study

Who is it for?: Ages 18 years and older
Conditions the study is for: Fabry Disease
How many people: 78 participants
Where: 5 sitesTaiwan
Study dates: 13 Sep 2023to 6 Nov 2026
How long will I take part?: 18 Months
Phase: Observational

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 years and older
All sexes
No healthy volunteers
Adult, Older adult

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

Who may be able to join

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.

Show all 24Show fewer

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.
Male patient is aged ≥ 30 years old and female patient is aged ≥ 40 years old at the time of signing informed consent.
The maximum proportion of female is 20% of cohort 3.
Patient who has never received agalsidase alpha or agalsidase beta treatment (ERT-naïve).
Elevated blood lyso-Gb3.
At least ONE of the following conditions documented in medical record:
cardiac parameter abnormalities (e.g. via imaging, electrophysiology, or biomarker);
at least one FD-related sign/symptom.
The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months.
Patients who are expected not to receive ERT or FD-specific treatment per investigator's judgement.

Who cannot join

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)

Trial locations and contacts

5 sites in 1 country.

City, postcode or hospital

5 sites in 1 country

Taiwan5 sites

Investigational Site Number : 1580004
Taichung, 407219
Investigational Site Number : 1580005
Tainan, 704
Investigational Site Number : 1580001
Taipei, 100
Investigational Site Number : 1580003
Taipei, 104
Investigational Site Number : 1580002
Taipei, 112

Other trials in Taiwan

About this study

Official title: An Observational Study of Enzyme Replacement Therapy-Naïve and Agalsidase Beta-Treated Fabry Disease Patients With GLA IVS4 919 G>A Mutation in Taiwan

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.

Read the detailed description

Study Design Time Perspective: Retrospective and Prospective

Conditions: Fabry Disease
Medical subject headings: Fabry Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT06052800
Study group	Role	What they receive
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

What is being measured

The primary outcome is the main question the study is designed to answer.

Cohort 1: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
Measured: 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
Measured: up to 1.5 years

Secondary outcomes (4)

Change of Left posterior wall thickness (LPWT) as measured by echocardiography
Measured: 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
Measured: 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
Measured: 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
Measured: For cohort 3, through study completion with a minimum of 1.5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

13 Sep 20236 Nov 2026

First posted25 Sep 2023
Study start13 Sep 2023
Primary completion6 Nov 2026 (estimated)
Study completion6 Nov 2026 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Fabry DiseaseStudies of the same condition, open and under way.
More trials run by SanofiThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Cohort
Time perspective: Other
Enrolment: 78 participants (actual)
Target duration: 18 Months

IDs, dates and publications

ClinicalTrials.gov ID: NCT06052800
Sponsor's protocol ID: OBS17349
Other IDs: U1111-1287-7177
Status last verified: Oct 2026
First submitted: 13 Sep 2023
Last updated: 8 Oct 2026
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: Yes: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

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