Screening for Fabry Disease in Patients with Heart Conditions

Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy

Observational Qilu Hospital of Shandong University · NCT06169358

This study is trying to see how common Fabry disease is in people with certain heart conditions by using a simple blood test to help catch it early and improve treatment.

Quick facts

Study typeObservational
Enrollment627 (estimated)
Ages18 Years and up
SexAll
SponsorQilu Hospital of Shandong University Academic / other
Locations1 site (Jinan, Jinan)
Trial IDNCT06169358 on ClinicalTrials.gov

What this trial studies

This study aims to identify the prevalence of Fabry disease among patients diagnosed with hypertrophic cardiomyopathy or left ventricular hypertrophy. It employs a multi-center approach to screen high-risk patients using dried blood disc screening tools. The goal is to enhance early detection, diagnosis, and treatment of Fabry disease in a cardiology setting. By focusing on high-risk profiles, the study seeks to improve patient outcomes through timely intervention.

Who should consider this trial

Good fit: Ideal candidates for this study are adults aged 18 and older who meet the diagnostic criteria for hypertrophic cardiomyopathy.

Not a fit: Patients whose hypertrophic cardiomyopathy is caused by known pathogenic gene mutations or other identifiable causes of left ventricular hypertrophy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to earlier diagnosis and treatment of Fabry disease in patients with heart conditions, potentially improving their quality of life.

How similar studies have performed: While this approach is focused on a specific patient population, similar studies have shown success in early identification of genetic conditions in cardiology settings.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Meet diagnostic criteria for hypertrophic cardiomyopathy (HCM) in adults (age ≥ 18 years):Imaging of one or more left ventricular segments reveals a maximum end-diastolic ventricular wall thickness of ≥15 mm or end-diastolic ventricular septal thickness or posterior left ventricular wall thickness of ≥13 mm on either cardiac imaging at rest.

Exclusion Criteria:

* 1. Identification of hypertrophic cardiomyopathy caused by mutations in pathogenic genes; 2. Identify the cause of left ventricular hypertrophy (LVH); 3. Aortic valve or mitral valve lesions that can cause hemodynamic changes.

Where this trial is running

Jinan, Jinan

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Hypertrophic CardiomyopathyLeft Ventricular HypertrophyFabry Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.