CVI Alterations in FD: a Prospective, Multicenter, Observational Cohort Study

Launched by CHINA NATIONAL CENTER FOR CARDIOVASCULAR DISEASES · Jul 16, 2024

Keywords

ClinConnect Summary

This clinical trial is looking at Fabry disease (FD), a rare genetic condition that can affect various organs, especially the heart. The study aims to better understand how this disease impacts heart health by focusing on patients who show certain warning signs of FD, particularly those with thickened heart walls (a condition called left ventricular hypertrophy). By identifying and screening patients earlier, the hope is to improve diagnosis and treatment options for those affected by the cardiac form of Fabry disease.

To join this study, participants need to be at least 18 years old and have a heart wall thickness of 13 mm or more, along with at least two warning signs related to Fabry disease, such as specific heart or skin conditions. The trial is currently recruiting participants, and anyone who qualifies will have the opportunity to undergo tests and monitoring to help researchers learn more about Fabry disease and its effects on heart health. It's important to note that patients with a clear cause for their heart thickening or other serious health issues may not be eligible for this study.

Gender

ALL

Eligibility 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.