Heart damage in fabry disease: new study tracks silent progression
NCT ID NCT07506083
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition where harmful substances build up and damage organs, especially the heart. Researchers use advanced heart scans and blood tests to track how the disease progresses over time. The goal is to improve screening and monitoring guidelines for this population.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could lead to better guidelines for screening and monitoring Fabry disease in East Asian populations, helping doctors decide when to start treatment.
- What could go wrong
- This is an observational study with only 31 participants, so findings may not apply to all patients. It does not test a new treatment, so direct benefits are limited.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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31 people
The number who actually took part.
- Started
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Oct 2022
- Expected to finish
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Sep 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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: * • 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 Exclusion Criteria: * Known infiltrative cardiomyopathy including amyloidosis * Known genetic (e.g. sarcomeric, metabolic mutations) hypertrophic cardiomyopathy * Pregnancy or suspected pregnancy
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Division of Cardiology, Department of Medicine and Therapeutics Faculty of Medicine, The Chinese University of Hong Kong
Shatin, New Territories, Sha Tin, Hong Kong
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Other studies related to the condition(s) this trial covers.
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