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.
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
- Are there results?
- Not yet: the study is under way
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.
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
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 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.
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 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.
- 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
Sponsor and investigators
- Lead sponsor
- Sanofi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences and Operations, Study director, Sanofi
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
Study at a glance
From the registry record, last updated by the sponsor on 8 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT06052800
- Acronym / sponsor ID
- OBS17349
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 78 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 13 Sep 2023 (actual)
- Primary completion
- 6 Nov 2026 (estimated)
- Study completion
- 6 Nov 2026 (estimated)
- First posted
- 25 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Design Time Perspective: Retrospective and Prospective
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 18 Months
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- FD patients carrying the GLA IVS4 mutation, who are eligible for 1 of the cohorts (1, 2, 3).
Key inclusion criteria (24 listed)
- Provide signed informed consent.
- 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.
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Cohort 1: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
Time frame: 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
Time frame: up to 1.5 years
4 secondary outcomes
Change of Left posterior wall thickness (LPWT) as measured by echocardiography
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: For cohort 3, through study completion with a minimum of 1.5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Oct 2026.
- Individual participant dataSharing planned: 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
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Clinical Sciences and Operations study director
Sanofi
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Sanofi at 5 sites in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 24 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 8 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cohort 1: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients (time frame: through study completion with a minimum of 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Oct 2026; AzTrials last refreshed its copy on 26 Oct 2026.