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

NCT06169358 | Unknown

• 1 other identifier: KYLL-202306-100-3
• Study Type: observational
• Target: 627
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study was to understand the epidemiological status of Fabry in patients with hypertrophic cardiomyopathy or left ventricular hypertrophy through multi-center early identification of high-risk patients in cardiology according to high-risk profiles, supplemented by DBS (dried blood disc) screening tools, and to explore the screening and diagnosis methods of patients with Fabry disease in cardiology, so as to promote the early identification, diagnosis and treatment of Fabry in cardiology.

Conditions

Hypertrophic Cardiomyopathy; Left Ventricular Hypertrophy; Fabry Disease

Outcome Measures

Primary Outcomes (1)

• diagnosis of Fabry disease

  Clinicians can identify high-risk patients in cardiology at an early stage according to the high-risk profile developed in this study, supplemented by the DBS (dried blood disc) screening tool, and diagnose and treat Fabry disease as early as possible through the established screening pathway for high-risk patients with Fabry disease in cardiology.

  1 year

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Clinical case collection of patients with hypertrophic cardiomyopathy or left ventricular hypertrophy

You may qualify if:

• 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.

You may not qualify if:

• \. 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.

Sponsors & Collaborators

• Qilu Hospital of Shandong University: lead

Study Sites (1)

Qilu Hospital of Shandong University

Jinan, Jinan, 250000, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples were collected for NT-proBNP values, routine blood tests (white blood cell count, hemoglobin, red blood cell count, platelet count, hematocrit), blood biochemistry (alanine aminotransferase, glutamine aminotransferase, urea nitrogen, creatinine, albumin, lipids, electrolytes, etc.), inflammatory markers (C-reactive protein, calcitonin), thyroid function (FT3, FT4, TSH, etc.), and markers of myocardial injury (troponin I, troponin T, creatine kinase isozymes, D-dimer, etc.), as well as genetic testing.

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic; Hypertrophy, Left Ventricular; Fabry Disease

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Cardiomegaly; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Xiaoping Ji

  Qilu Hospital of Shandong University

  STUDY CHAIR

Central Study Contacts

Xinyu Zhang

CONTACT

18560087699; zhangxinyu@sdu.edu.cn

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 5, 2023
• First Posted: December 13, 2023
• Study Start: October 1, 2023
• Primary Completion: September 1, 2024
• Study Completion: September 1, 2024
• Last Updated: December 13, 2023

Record last verified: 2023-10

Locations

CN (1)