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Heart damage in fabry disease: new study tracks silent progression

NCT ID NCT07506083

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

31 people

The number who actually took part.

Started

Oct 2022

Expected to finish

Sep 2026

An estimate. End dates often move.

Lead sponsor

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

18 years and older

Sex

Anyone

Healthy volunteers

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

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

  • 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.