Assessment of Cardiac Function, Microvascular Function and Cardiac Perfusion in Different Disease Stages of Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy Clinical Trial

— FUSION-HCM  

Official title:

Assessment of Myocardial Function, (Peripheral) Endothelial Function and Perfusion in Early and Advanced Disease Stages of Hypertrophic Cardiomyopathy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06400524
• Other study ID #: NL83573.018.23
• Status: Recruiting
• Start date: May 2024
• Est. completion date: May 2026

Study information

• Verified date: May 2024
• Source: Amsterdam UMC, location VUmc
• Contact: Julia E Visch, MD
• Phone: +31629349699
• Email: j.visch[@]amsterdamumc.nl
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by asymmetric hypertrophy of the heart in absence of loading conditions like hypertension. The genetic mutation underlying HCM sets in motion a cascade of functional and metabolic changes ultimately leading to disease. HCM patients often have microvascular dysfunction and myocardial perfusion deficits, of which the aetiology has not been elucidated. Whether these changes are secondary to remodelling or primarily caused by endothelial dysfunction is unclear. As the pathomechanism of HCM is thought to be a cascade of changes, it is important to gain more insight in the perfusion and endothelial function changes throughout different stages of disease: no phenotype, mild phenotype, and advanced HCM phenotype. In this study we aim to investigate these changes in the two most common genetic mutations.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: May 2026
• Est. primary completion date: May 2026
• Gender: All
• Age group: 18 Years to 70 Years

Eligibility

Inclusion Criteria:

One of below:

• MYBPC3 mutation carrier

• MYH7 mutation carrier

• Genotype-negative first degree relative of a MYBPC3 or MYH7 mutation carrier

All of the following criteria:

• For the mutation carrier group: =18 years old

• For the genotype-negative group: =30 years old

MYBPC3 and MYH7 mutation carriers will be designated to one of three groups based on their maximum wall thickness, measured by echocardiography and MRI:

• No phenotype: MWT <12mm

• Mild Phenotype: MWT =12 until <15mm

• HCM phenotype: MWT =15mm

Exclusion Criteria:

• =70 years old

• Insulin-dependent diabetes mellitus

• Pregnancy

• Smoking

• Claustrophobia

• Pacemaker/ICD

• Renal insufficiency <30 GFR

• Hypertension (systolic >140mmHg or diastolic >90mmHg)

• For the genotype negative group, no phenotype group, and mild phenotype group: the use of blood pressure medication (diuretics, beta-blockers, ACE-inhibitors, angiotensin II receptor blockers, calcium channel blockers, alpha blockers)

• For the HCM phenotype group: when it is unsafe to withhold from blood pressure medication (as specified above) for two days, as assessed by their own cardiologist

• Left ventricular outflow tract gradient > 50mmHg

• Aortic valve disease

• Left bundle branch block

• (History of) Obstructive coronary artery disease

• Chronic atrial fibrillation

• Hormone replacement therapy

• Second or third-degree AV-block, sick-sinussyndrome, prolonged QT-interval

• Asthma and other obstructive pulmonary diseases

• Previous adverse reaction to adenosine or dotarem

Related Conditions & MeSH terms

• Cardiomyopathies
• Cardiomyopathy, Hypertrophic
• Hypertrophic Cardiomyopathy
• Hypertrophy

Locations

Country	Name	City	State
Netherlands	Amsterdam UMC - location VUmc	Amsterdam	Noord-Holland

Sponsors (1)

Lead Sponsor	Collaborator
Amsterdam UMC, location VUmc

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	myocardial blood flow	assessed by PET and CMR	1 month
Primary	peripheral endothelial function	assessed by EndoPAT and LASCA	1 month
Secondary	Tissue characterization	assessed by CMR	1 month
Secondary	Diastolic dysfunction	assessed by echocardiography	1 month
Secondary	Fibrosis	assessed by CMR	1 month