Hypertrophic CardiomyopathyFUSION-HCMNCT06400524
Assessment of Cardiac Function, Microvascular Function and Cardiac Perfusion in Different Disease Stages of Hypertrophic Cardiomyopathy
An observational study of Hypertrophic Cardiomyopathy and Hypertrophic Cardiomyopathy, Obstructive, run by Amsterdam UMC, location VUmc at 1 site in Netherlands.
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. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Hypertrophic Cardiomyopathy, Hypertrophic Cardiomyopathy, Obstructive
- How many people
- 100 participants
- Where
- 1 siteNetherlands
- Study dates
- May 2024to May 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- Adult, Older adult
Study population: Potential study subjects are recruited from different hospitals and will be invited to the VUmc. Our research consortium consists of cardiologists and cardiogeneticists who will spread our call for participants to their patients. We will also work together with the HCM patient organization. Potential study subjects will be invited to contact us by phone or e-mail, after which an information letter will be sent. If someone is interested in participation in the study, they will be invited to the VUmc to sign informed consent and undergo day 1 of the study.
Who may be able to join
- 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
Show all 11Show fewer
- 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
Who cannot join
- ≥70 years old
- Insulin-dependent diabetes mellitus
- Pregnancy
- Smoking
- Claustrophobia
- Pacemaker/ICD
Show all 19Show fewer
- 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
Trial locations and contacts
1 site in 1 country.
Netherlands1 site, 1 recruiting
- Recruiting
Amsterdam UMC - location VUmc
Amsterdam, North Holland, 1081HV
Julia E Visch, MD, +31629349699, j.visch@amsterdamumc.nl
About this study
Official title: Assessment of Myocardial Function, (Peripheral) Endothelial Function and Perfusion in Early and Advanced Disease Stages of Hypertrophic Cardiomyopathy
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.
- Keywords
- hypertrophic cardiomyopathy, perfusion, endothelial function
- Medical subject headings
- Cardiomyopathy, Hypertrophic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy controls | Not described | |
| Mutation carriers | Not described | |
| Mild hypertrophy | Not described | |
| Overt hypertrophy | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
myocardial blood flow
assessed by PET and CMR
Measured: 1 month
peripheral endothelial function
assessed by EndoPAT and LASCA
Measured: 1 month
Secondary outcomes (3)
Tissue characterization
assessed by CMR
Measured: 1 month
Diastolic dysfunction
assessed by echocardiography
Measured: 1 month
Fibrosis
assessed by CMR
Measured: 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2024
- Study startMay 2024 (estimated)
- Primary completionMay 2026 (estimated)
- Study completionMay 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypertrophic CardiomyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Amsterdam UMC, location VUmc
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Tjeerd Germans, Amsterdam UMC, location VUmc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06400524
- Sponsor's protocol ID
- NL83573.018.23
- Acronym
- FUSION-HCM
- Status last verified
- May 2024
- First submitted
- 1 May 2024
- Last updated
- 6 May 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Myocardial Function, (Peripheral) Endothelial Function and Perfusion in Early and Advanced Disease Stages of Hypertrophic Cardiomyopathy
- ClinicalTrials.gov ID
- NCT06400524
- Acronym / sponsor ID
- FUSION-HCM / NL83573.018.23
- Keywords
- hypertrophic cardiomyopathy, perfusion, endothelial function
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Amsterdam UMC, location VUmcUniversity, hospital or other
- Study start
- May 2024 (estimated)
- Primary completion
- May 2026 (estimated)
- Study completion
- May 2026 (estimated)
- First posted
- 6 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Healthy controls | – | – |
| Mutation carriers | – | – |
| Mild hypertrophy | – | – |
| Overt hypertrophy | – | – |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Potential study subjects are recruited from different hospitals and will be invited to the VUmc. Our research consortium consists of cardiologists and cardiogeneticists who will spread our call for participants to their patients. We will also work together with the HCM patient organization. Potential study subjects will be invited to contact us by phone or e-mail, after which an information letter will be sent. If someone is interested in participation in the study, they will be invited to the VUmc to sign informed consent and undergo day 1 of the study.
Key inclusion criteria (11 listed)
- MYBPC3 mutation carrier
- MYH7 mutation carrier
- Genotype-negative first degree relative of a MYBPC3 or MYH7 mutation carrier
- For the mutation carrier group: ≥18 years old
- For the genotype-negative group: ≥30 years old
Key exclusion criteria (19 listed)
- ≥70 years old
- Insulin-dependent diabetes mellitus
- Pregnancy
- Smoking
- Claustrophobia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
myocardial blood flow
Time frame: 1 month
assessed by PET and CMR
peripheral endothelial function
Time frame: 1 month
assessed by EndoPAT and LASCA
3 secondary outcomes
Tissue characterization
Time frame: 1 month
Diastolic dysfunction
Time frame: 1 month
Fibrosis
Time frame: 1 month
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypertrophic Cardiomyopathy and Hypertrophic Cardiomyopathy, Obstructive, run by Amsterdam UMC, location VUmc at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 19 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 6 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Julia E Visch, MD (+31629349699, j.visch@amsterdamumc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
myocardial blood flow (time frame: 1 month). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2024.