Observing heart changes in patients with Fabry disease
Official title: The Characteristics of Cardiovascular Imaging Alterations in Patients with Fabry Cardiomyopathy: a Prospective, Multicenter, Observational Cohort Study
Run by China National Center for Cardiovascular Diseases · NCT06512571 · Data updated 2026-11-12
This study looks at heart changes in people with Fabry disease to better understand how the condition affects their heart health.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | China National Center for Cardiovascular Diseases Government |
| Locations | 1 site (Beijing) |
| Status | Recruiting |
| Started | December 31, 2024 |
| Main results expected | December 30, 2026 |
| Study ends | December 30, 2026 |
| Registry record updated | March 26, 2025 |
| Trial ID | NCT06512571 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are adults aged 18 and older with a confirmed diagnosis of Fabry disease and specific cardiac alterations.
✕Probably not a fit
Patients without significant cardiac involvement or those under 18 years old may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational cohort study aims to investigate cardiovascular alterations in patients diagnosed with Fabry disease, particularly focusing on those exhibiting cardiac variants. Participants will be assessed based on specific echocardiographic criteria and the presence of warning signs associated with the disease. The study will involve multiple centers in China, gathering data to better understand the progression and manifestations of Fabry disease in the cardiovascular system. By analyzing these alterations, the study seeks to enhance the understanding of Fabry disease's impact on heart health.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with Fabry disease, particularly regarding their cardiovascular health.
How similar studies have gone: While there is limited data on similar observational studies specifically targeting cardiovascular changes in Fabry disease, the approach of studying cardiac manifestations in rare diseases has shown promise in other contexts.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria:
Patients to be enrolled in this study should fulfill all 3 criteria (a, b, and c) at screening:
1. Patients with a maximum myocardial wall thickness (left ventricular posterior wall or septum) of ≥13 mm at the end diastole on echocardiography;
2. At least two or more "warning signs" associated with FD ("warning signs" include cardiac "warning signs", extracardiac "warning signs", or family history)
3. Aged 18 years old or older;
cardiac "warning signs" of FD:
Concentric LVH or papillary hypertrophy or right ventricular hypertrophy on echocardiography
ECG abnormalities (eg, shortened PR interval, wide QRS complex, right bundle branch block, ST-segment depression, etc.)
Extra-cardiac "warning signs" of FD
Angiokeratomas
Acroparesthesia
Hypohidrosis
Premature stroke (\<50 years of age)
Corneal verticillate
Renal impairment accompanied by proteinuria
Hearing loss
Family history
Family history of X-linked inherited disorder (renal disease or cardiac disease)
Exclusion Criteria:
1. LVH patients with a clear etiology;
2. Combining any other clinical condition with a life expectancy less than 1 year;
3. Refuse to give informed consent or refuse to be followed-up.
Where it's running
-
Fuwai Hospital, National Centre for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College
Beijing, China Recruiting
Study contacts
- Principal investigator: Lei Song — Fuwai Hospital, National Centre for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College
- Study coordinator: Lei Song
- Email: songlqd@126.com
- Phone: +86 8839 2165
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.