Fabry DiseaseNCT07506083
Natural History in Fabry Disease With IVS4+919G>A Mutations
An observational study of Fabry Disease, run by Chinese University of Hong Kong at 1 site in Hong Kong.
Trial summary
Fabry disease (FD) is a genetic condition where mutations in the GLA gene cause low activity of an important enzyme (alpha-Galactosidase A). This leads to harmful substances building up in the body. A key marker is lyso-Gb3, which can damage organs. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- How many people
- 31 participants
- Where
- 1 siteHong Kong
- Study dates
- 20 Oct 2022to 30 Sep 2026
- 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: Potential study participants will be identified from a cohort of genetically confirmed FD patients and their affected relatives diagnosed in Prince of Wales Hospital, Hong Kong and referred from the other regional hospitals/FD centres.
Who may be able to join
- ERT-naive group:
- Age ≥18-year-old
- East Asian ethnicities
- Not on ERT
- Capable of giving signed informed consent
- IVS4+919G>A GLA mutation AND at least ONE of the followings:
Show all 14Show fewer
- • An increase of plasma LysoGb3 level
- • Demonstration of characteristic storage in the affected organ (e.g. heart, kidney)
- ERT comparator group:
- Age ≥18-year-old
- Capable of giving signed informed consent
- East Asian ethnicities
- On ERT or planned to start ERT
- IVS4+919G>A mutation
Who cannot join
- Known infiltrative cardiomyopathy including amyloidosis
- Known genetic (e.g. sarcomeric, metabolic mutations) hypertrophic cardiomyopathy
- Pregnancy or suspected pregnancy
Trial locations and contacts
1 site in 1 country.
Hong Kong1 site
Division of Cardiology, Department of Medicine and Therapeutics Faculty of Medicine, The Chinese University of Hong Kong
Shatin, New Territories, Sha Tin
About this study
Official title: Natural History in Fabry Disease With IVS4+919G>A Mutations: A Longitudinal Study (FABULOUS)
Fabry disease (FD) is a genetic condition where mutations in the GLA gene cause low activity of an important enzyme (alpha-Galactosidase A). This leads to harmful substances building up in the body. A key marker is lyso-Gb3, which can damage organs. FD commonly affects the heart, causing left ventricular hypertrophy (LVH), fibrosis, and worsening heart function over time.
In East Asian populations, the exact natural progression of FD is not well understood, even though a specific mutation called IVS4+919G>A is relatively common due to a "founder effect" seen in places like Taiwan and also in Hong Kong. People with this mutation often develop heart problems later in life, with LVH typically increasing after about age 40.
Read more
Researchers use advanced heart scans to detect early disease. Cardiac MRI (CMR) native T1 mapping (without contrast) can distinguish normal heart tissue from FD-related changes. CMR measures can reflect different stages of heart damage-starting with accumulation, then inflammation and muscle thickening, and finally fibrosis and impaired function. Some women may not have clear blood test abnormalities yet can still develop ongoing heart damage.
Because some MRI findings (like late gadolinium enhancement, LGE) may represent inflammation as well as fibrosis, and because heart damage can progress even before symptoms appear, non-invasive monitoring is important. Imaging methods like strain echocardiography and repeated T1 mapping can track progression, including in patients without obvious early heart thickening.
Finally, since most previous studies have included fewer East Asian patients, the study aims to better define the natural history of FD in Chinese patients with the IVS4+919G>A mutation by following them over time with regular health checks, blood and enzyme testing, kidney and heart function tests, and family/genetic mapping. The goal is to improve guidelines for screening, monitoring, and deciding when to start treatment (ERT).
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, Globotriaosylsphingosine, Lyso-globotriaosylsphingosine, Alpha-Galactosidase A, GLA Gene, IVS4+919G>A Mutation
- 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 |
|---|---|---|
| ERT-naive group | Participants with Fabry disease due to the GLA IVS4+919G>A mutation who have not started enzyme replacement therapy at enrollment (to characterize natural history/progression). | |
| ERT cohort | Participants with Fabry disease (IVS4+919G>A) who are receiving enzyme replacement therapy (or are expected to start/continue it), included so changes can be observed in relation to treatment timing. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression - Left Ventricular mass index
The Left Ventricular mass index quantifies the mass of the left ventricle, the heart's main pumping chamber, relative to an individual's body size. This will be measured using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - Papillary muscle mass index
Papillary muscle mass refers to the total amount of tissue (mass) in the papillary muscles located within the left ventricle. These muscles help support the mitral valve and play an important role in how the left ventricle pumps blood during systole. This measurement will be obtained using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - LVEF
LVEF, or Left Ventricular Ejection Fraction, indicates how well the left ventricle pumps blood. This will be measured using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - LVEDV
LVEDV, or Left Ventricular End-Diastolic Volume, is the amount of blood in the left ventricle at the end of diastole, right before the heart contracts. This will be measured using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - LVESV
LVESV stands for Left Ventricular End-Systolic Volume and refers to the volume of blood remaining in the left ventricle after pumping. This will be measured using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - Native T1 mapping
Native T1 is a heart MRI measurement that looks at the properties of the heart muscle tissue without using contrast dye. It helps detect early or subtle tissue changes, such as inflammation or remodeling, even when scarring isn't yet obvious. This will be obtained during cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - LGE volume
LGE volume refers to the measurement of Late Gadolinium Enhancement, a cardiac MRI method used to estimate how much heart muscle has developed fibrosis (scarring). This measurement will be obtained using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - Number of LGE-positive segments
LGE positive refers to Late Gadolinium Enhancement and is used to visualise and assess myocardial damage or scarring. This measurement will be obtained using cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - ECV
Extracellular Volume (ECV) it's a measurement from cardiac MRI that estimates how much of the heart muscle's space is in the outside (between-cell) area, which can increase when there's things like fibrosis (scarring) or other tissue remodeling. This measurement will be obtained with T1 mapping during cardiac MRI.
Measured: Baseline, 12 months follow-up and 24 months follow-up
Disease progression - LV end-diastolic septal thickness
Left Ventricle end-diastolic septal thickness is the thickness of the septum, the wall between the left and right sides of the heart, measured at the end of diastole, just before the heart contracts. This measurement indicates how thick that part of the heart wall is when the ventricle is fully filled. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18-and 24-month follow-up
Disease progression - LV end-diastolic posterior wall thickness
Left Ventricle end-diastolic posterior wall thickness is a measure of how thick the back wall of the left ventricle is at the end of heart filling. This measurement will be obtained during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - LV maximal wall thickness
Left ventricular maximal wall thickness measures how thick the heart muscle is at its thickest point on the left ventricle wall. This measurement will be taken during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Left Ventricular Ejection Fraction (LVEF)
Left Ventricular Ejection Fraction (LVEF) is a measure of how well the left side of the heart pumps. It shows what percentage of blood in the left ventricle is pushed out with each heartbeat. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Left Ventricular End-Diastolic Volume (LVEDV)
Left Ventricular End-Diastolic Volume (LVEDV) is the amount of blood left in the left ventricle at the end of diastole. This measurement will be taken during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Left ventricular end-systolic volume (LVESV)
Left ventricular end-systolic volume (LVESV) is the amount of blood left in the left ventricle right after it contracts. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Left Atrium Volume (LA volume)
Left Atrium Volume (LA volume) means the size of the left atrium and is a measurement of how much space or blood the left atrium holds. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Right Ventricle Volume (RV Volume)
Right ventricular volume refers to the amount of blood in the right ventricle, usually measured at end-diastole (when the heart is filling) and end-systole (when it has squeezed). This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Right Ventricular Systolic Pressure (RVSP)
Right Ventricular Systolic Pressure (RVSP) measures the pressure generated by the right ventricle as it pumps blood into the pulmonary artery. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - LV global longitudinal strain (GLS)
LV global longitudinal strain (GLS) is a measurement of how well the left ventricle is squeezing by looking at how much the heart muscle shortens in length during each heartbeat. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Left Atrial strains (LA strains)
Left Atrial strains (LA strains) is a measurement of how well the left atrium is working, by tracking how much it stretches and squeezes during the heartbeat. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Right Ventricle free wall
The Right Ventricle free wall refers to the outer/free edge of the right ventricle and is used to assess how well the right ventricle is contracting and working.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Septal longitudinal strain
Septal longitudinal strain is a measure of how much the septum (the wall in the middle of the heart that separates the left and right sides) lengthens and shortens from the base to the tip of the heart during each heartbeat. This will be measured during echocardiography.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Secondary outcomes (11)
Disease progression - Plasma lyso-Gb3
Plasma lyso-Gb3 is a blood test that measures a substance called lyso-globotriaosylsphingosine (lyso-Gb3). In Fabry disease, the body can't properly break down certain fats, because of that, lyso-Gb3 can build up. This is used as a biomarker to diagnose Fabry disease and to monitor disease progression. This will be obtained during a blood test.
Measured: Baseline, 12- and 24 months
Disease progression - NT-proBNP
NT-proBNP is a blood biomarker released by the heart that indicates cardiac stress and helps diagnose and monitor heart failure. This will be obtained during a blood test.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Troponins
Cardiac troponins are proteins that leak into the bloodstream when the heart muscle is injured. They are used to help diagnose heart attacks and other types of heart damage. This will be measured using a blood test.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Urinary protein
Measuring urinary protein is an important way to check how well the kidneys are working. This will be measured by collecting a urine sample.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Albumin
Albumin is a protein made by the liver and is essential for maintaining fluid balance and transporting substances throughout the body. This will be measured by collecting a blood test.
Measured: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression and disease severity - MSSI (Mainz Severity Score Index)
MSSI (Mainz Severity Score Index) will be used to measure how severe the disease is overall and how the participants' health changes overtime or in response to treatment. A higher MSSI score means the disease is more severe.
Measured: Baseline, 6-, 12-. 18- and 24-month follow-up
Disease progression - NYHA class
A NYHA class (New York Heart Association) questionnaire will be used to assess the heart failure severity and the impact on the patients' daily activities and overall functional capacity. The scores are divided into Class I (1) to Class IV (4) with Class I meaning no limitations and Class IV meaning severe limitations.
Measured: Baseline, 6-, 12-. 18- and 24-month follow-up
Mortality
Mortality will be recorded during the study period.
Measured: This will be assessed from baseline, 6-, 12-, 18- and 24-month follow-up
Disease progression - New onset of Heart Failure
Any new onset of heart failure will be recorded throughout the study. This will be assessed by capturing evidence of cardiac deterioration and heart failure symptoms using standard tools such as the NYHA questionnaire and echocardiography.
Measured: This will be assessed starting from baseline, then at 6-, 12-, 18- and 24-month follow-up.
Disease progression - Arrhythmia
Detected rhythm abnormalities/events during follow-up will be documented and analysed as part of disease progression. This will be assessed using standard 12-lead ECG and 24-hour Holter ECG.
Measured: The standard 12-lead ECG will be conducted at baseline, 6-, 12-. 18- and 24-month follow-up. The 24-hour Holter ECG will be conducted at 12- and 24-month follow-up
Disease progression - Cardiac hospitalisation
Any hospitalisation due to a cardiac cause will be assessed and recorded throughout the study, and this will be evaluated at the scheduled clinical visits.
Measured: Starting from baseline and then at 6-, 12-, 18- and 24-month follow-up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2026
- Study start20 Oct 2022
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Sep 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 Chinese University of Hong KongThe 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
- Prospective
- Enrolment
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- Chinese University of Hong Kong
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dr Alex PW Lee, Chinese University of Hong Kong
- Investigators
- Alex PW Lee, Professor, Principal investigator, Chinese University of Hong Kong
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07506083
- Sponsor's protocol ID
- 2021.45
- Status last verified
- Mar 2026
- First submitted
- 26 Mar 2026
- Last updated
- 1 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History in Fabry Disease With IVS4+919G>A Mutations: A Longitudinal Study (FABULOUS)
- ClinicalTrials.gov ID
- NCT07506083
- Acronym / sponsor ID
- 2021.45
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, Globotriaosylsphingosine, Lyso-globotriaosylsphingosine, Alpha-Galactosidase A, GLA Gene, IVS4+919G>A Mutation
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 31 participants (actual)
- Lead sponsor
- Chinese University of Hong KongUniversity, hospital or other
- Study start
- 20 Oct 2022 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Sep 2026 (estimated)
- First posted
- 1 Apr 2026 (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.
Fabry disease (FD) is a genetic condition where mutations in the GLA gene cause low activity of an important enzyme (alpha-Galactosidase A). This leads to harmful substances building up in the body. A key marker is lyso-Gb3, which can damage organs. FD commonly affects the heart, causing left ventricular hypertrophy (LVH), fibrosis, and worsening heart function over time.
In East Asian populations, the exact natural progression of FD is not well understood, even though a specific mutation called IVS4+919G>A is relatively common due to a "founder effect" seen in places like Taiwan and also in Hong Kong. People with this mutation often develop heart problems later in life, with LVH typically increasing after about age 40.
Researchers use advanced heart scans to detect early disease. Cardiac MRI (CMR) native T1 mapping (without contrast) can distinguish normal heart tissue from FD-related changes. CMR measures can reflect different stages of heart damage-starting with accumulation, then inflammation and muscle thickening, and finally fibrosis and impaired function. Some women may not have clear blood test abnormalities yet can still develop ongoing heart damage.
Because some MRI findings (like late gadolinium enhancement, LGE) may represent inflammation as well as fibrosis, and because heart damage can progress even before symptoms appear, non-invasive monitoring is important. Imaging methods like strain echocardiography and repeated T1 mapping can track progression, including in patients without obvious early heart thickening.
Finally, since most previous studies have included fewer East Asian patients, the study aims to better define the natural history of FD in Chinese patients with the IVS4+919G>A mutation by following them over time with regular health checks, blood and enzyme testing, kidney and heart function tests, and family/genetic mapping. The goal is to improve guidelines for screening, monitoring, and deciding when to start treatment (ERT).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ERT-naive group | – | –Participants with Fabry disease due to the GLA IVS4+919G>A mutation who have not started enzyme replacement therapy at enrollment (to characterize natural history/progression). |
| ERT cohort | – | –Participants with Fabry disease (IVS4+919G>A) who are receiving enzyme replacement therapy (or are expected to start/continue it), included so changes can be observed in relation to treatment timing. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Potential study participants will be identified from a cohort of genetically confirmed FD patients and their affected relatives diagnosed in Prince of Wales Hospital, Hong Kong and referred from the other regional hospitals/FD centres.
Key inclusion criteria (14 listed)
- ERT-naive group:
- Age ≥18-year-old
- East Asian ethnicities
- Not on ERT
- Capable of giving signed informed consent
Key exclusion criteria (3 listed)
- Known infiltrative cardiomyopathy including amyloidosis
- Known genetic (e.g. sarcomeric, metabolic mutations) hypertrophic cardiomyopathy
- Pregnancy or suspected pregnancy
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
Disease progression - Left Ventricular mass index
Time frame: Baseline, 12 months follow-up and 24 months follow-up
The Left Ventricular mass index quantifies the mass of the left ventricle, the heart's main pumping chamber, relative to an individual's body size. This will be measured using cardiac MRI.
Disease progression - Papillary muscle mass index
Time frame: Baseline, 12 months follow-up and 24 months follow-up
Papillary muscle mass refers to the total amount of tissue (mass) in the papillary muscles located within the left ventricle. These muscles help support the mitral valve and play an important role in how the left ventricle pumps blood during systole. This measurement will be obtained using cardiac MRI.
Disease progression - LVEF
Time frame: Baseline, 12 months follow-up and 24 months follow-up
LVEF, or Left Ventricular Ejection Fraction, indicates how well the left ventricle pumps blood. This will be measured using cardiac MRI.
Disease progression - LVEDV
Time frame: Baseline, 12 months follow-up and 24 months follow-up
LVEDV, or Left Ventricular End-Diastolic Volume, is the amount of blood in the left ventricle at the end of diastole, right before the heart contracts. This will be measured using cardiac MRI.
Disease progression - LVESV
Time frame: Baseline, 12 months follow-up and 24 months follow-up
LVESV stands for Left Ventricular End-Systolic Volume and refers to the volume of blood remaining in the left ventricle after pumping. This will be measured using cardiac MRI.
Disease progression - Native T1 mapping
Time frame: Baseline, 12 months follow-up and 24 months follow-up
Native T1 is a heart MRI measurement that looks at the properties of the heart muscle tissue without using contrast dye. It helps detect early or subtle tissue changes, such as inflammation or remodeling, even when scarring isn't yet obvious. This will be obtained during cardiac MRI.
Disease progression - LGE volume
Time frame: Baseline, 12 months follow-up and 24 months follow-up
LGE volume refers to the measurement of Late Gadolinium Enhancement, a cardiac MRI method used to estimate how much heart muscle has developed fibrosis (scarring). This measurement will be obtained using cardiac MRI.
Disease progression - Number of LGE-positive segments
Time frame: Baseline, 12 months follow-up and 24 months follow-up
LGE positive refers to Late Gadolinium Enhancement and is used to visualise and assess myocardial damage or scarring. This measurement will be obtained using cardiac MRI.
Disease progression - ECV
Time frame: Baseline, 12 months follow-up and 24 months follow-up
Extracellular Volume (ECV) it's a measurement from cardiac MRI that estimates how much of the heart muscle's space is in the outside (between-cell) area, which can increase when there's things like fibrosis (scarring) or other tissue remodeling. This measurement will be obtained with T1 mapping during cardiac MRI.
Disease progression - LV end-diastolic septal thickness
Time frame: Baseline, 6-, 12-, 18-and 24-month follow-up
Left Ventricle end-diastolic septal thickness is the thickness of the septum, the wall between the left and right sides of the heart, measured at the end of diastole, just before the heart contracts. This measurement indicates how thick that part of the heart wall is when the ventricle is fully filled. This will be measured during echocardiography.
Disease progression - LV end-diastolic posterior wall thickness
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left Ventricle end-diastolic posterior wall thickness is a measure of how thick the back wall of the left ventricle is at the end of heart filling. This measurement will be obtained during echocardiography.
Disease progression - LV maximal wall thickness
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left ventricular maximal wall thickness measures how thick the heart muscle is at its thickest point on the left ventricle wall. This measurement will be taken during echocardiography.
Disease progression - Left Ventricular Ejection Fraction (LVEF)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left Ventricular Ejection Fraction (LVEF) is a measure of how well the left side of the heart pumps. It shows what percentage of blood in the left ventricle is pushed out with each heartbeat. This will be measured during echocardiography.
Disease progression - Left Ventricular End-Diastolic Volume (LVEDV)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left Ventricular End-Diastolic Volume (LVEDV) is the amount of blood left in the left ventricle at the end of diastole. This measurement will be taken during echocardiography.
Disease progression - Left ventricular end-systolic volume (LVESV)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left ventricular end-systolic volume (LVESV) is the amount of blood left in the left ventricle right after it contracts. This will be measured during echocardiography.
Disease progression - Left Atrium Volume (LA volume)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left Atrium Volume (LA volume) means the size of the left atrium and is a measurement of how much space or blood the left atrium holds. This will be measured during echocardiography.
Disease progression - Right Ventricle Volume (RV Volume)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Right ventricular volume refers to the amount of blood in the right ventricle, usually measured at end-diastole (when the heart is filling) and end-systole (when it has squeezed). This will be measured during echocardiography.
Disease progression - Right Ventricular Systolic Pressure (RVSP)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Right Ventricular Systolic Pressure (RVSP) measures the pressure generated by the right ventricle as it pumps blood into the pulmonary artery. This will be measured during echocardiography.
Disease progression - LV global longitudinal strain (GLS)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
LV global longitudinal strain (GLS) is a measurement of how well the left ventricle is squeezing by looking at how much the heart muscle shortens in length during each heartbeat. This will be measured during echocardiography.
Disease progression - Left Atrial strains (LA strains)
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Left Atrial strains (LA strains) is a measurement of how well the left atrium is working, by tracking how much it stretches and squeezes during the heartbeat. This will be measured during echocardiography.
Disease progression - Right Ventricle free wall
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
The Right Ventricle free wall refers to the outer/free edge of the right ventricle and is used to assess how well the right ventricle is contracting and working.
Disease progression - Septal longitudinal strain
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Septal longitudinal strain is a measure of how much the septum (the wall in the middle of the heart that separates the left and right sides) lengthens and shortens from the base to the tip of the heart during each heartbeat. This will be measured during echocardiography.
11 secondary outcomes
Disease progression - Plasma lyso-Gb3
Time frame: Baseline, 12- and 24 months
Disease progression - NT-proBNP
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Troponins
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Urinary protein
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression - Albumin
Time frame: Baseline, 6-, 12-, 18- and 24 months follow-up
Disease progression and disease severity - MSSI (Mainz Severity Score Index)
Time frame: Baseline, 6-, 12-. 18- and 24-month follow-up
Disease progression - NYHA class
Time frame: Baseline, 6-, 12-. 18- and 24-month follow-up
Mortality
Time frame: This will be assessed from baseline, 6-, 12-, 18- and 24-month follow-up
Disease progression - New onset of Heart Failure
Time frame: This will be assessed starting from baseline, then at 6-, 12-, 18- and 24-month follow-up.
Disease progression - Arrhythmia
Time frame: The standard 12-lead ECG will be conducted at baseline, 6-, 12-. 18- and 24-month follow-up. The 24-hour Holter ECG will be conducted at 12- and 24-month follow-up
Disease progression - Cardiac hospitalisation
Time frame: Starting from baseline and then at 6-, 12-, 18- and 24-month follow-up
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 1 Apr 2026.
- Individual participant dataSharing planned: No
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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.
Alex PW Lee, Professor principal investigator
Chinese University of Hong Kong
1 site 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 Chinese University of Hong Kong at 1 site in Hong Kong.
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 14 inclusion and 3 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 1 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Hong Kong. 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?
Disease progression - Left Ventricular mass index (time frame: Baseline, 12 months follow-up and 24 months follow-up). The study lists 22 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 1 Apr 2026.