HCMR - Cardiac Magnetic Resonance in HCM (Closed)

This study is in the follow-up phase, and is no longer accepting participants.

HCMR – Novel Markers of Prognosis in Hypertrophic Cardiomyopathy – (taken from: ClinicalTrials.gov)          
Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease and the most frequent cause of sudden cardiac death (SCD) in the young. It is characterized by unexplained left ventricular hypertrophy (LVH), diffuse and patchy fibrosis, and myofibrillar disarray. While the majority of patients remain asymptomatic, prognosis is poor in a subset who present with SCD or progress to heart failure (HF). Current methods to predict risk of these adverse events and to target therapy are limited. Current medical therapy does not protect against SCD, nor does it prevent development of HF. Therefore, the identification of novel risk markers would help develop therapeutic targets aimed at altering the phenotypic expression to impact the natural history, especially SCD and HF. Cardiovascular magnetic resonance (CMR) is emerging as a powerful tool for diagnosis and risk stratification in HCM including assessment of LV mass and pattern of hypertrophy. Late gadolinium enhancement by CMR is a marker of focal myocardial fibrosis which is thought to underlie the arrhythmogenic substrate as well as promote development of HF.
The investigators hypothesize that HCM patients with a higher primary outcome event rate can be identified by novel CMR findings. The majority of cases of HCM are autosomal dominant and about 60% are caused by mutations in genes encoding cardiac sarcomeric proteins. However, the relationship between genetic mutation, disease phenotype, and clinical outcomes remains poorly understood. The investigators hypothesize that HCM patients with sarcomeric HCM mutations will have a higher primary outcome event rate and more marked myocardial pathology on CMR than those without. Furthermore, there may be a link between sarcomeric mutations and fibrosis, as mutation carriers with overt HCM as well as those without hypertrophy have elevated markers of collagen turnover. The investigators therefore hypothesize that serum biomarkers of collagen metabolism in HCM will predict outcomes. Thus, the Specific Aim is to develop a predictive model of cardiovascular outcomes in HCM by: 1) using exploratory data mining methods to identify demographic, clinical, and novel CMR, genetic and biomarker variables associated with the outcomes and 2) develop a score from the predictive model that can be used to assess risk given a patient’s combination of risk factors, thus establishing the evidence base to enable clinical trial design to reduce morbidity and mortality in HCM in a cost-effective manner.

About the HCM Registry

The purpose of the HCM Registry is to find ways of predicting the risk of developing complications associated with HCM, so that the most appropriate advice and treatment can be given to patients.
This study will carry out a careful and thorough assessment of people with HCM using new sophisticated tests to identify markers that are associated with these complications.
This information we gather from this research will help doctors in the future identify people with HCM who are at higher risks of developing complications as a result of the disease and give the most appropriate treatment.

Who Is Carrying Out This Research?

This research is funded by the National Institutes of Health (nih.gov).
The University of Virginia, USA, and the University of Oxford, UK, are organising this research. This study involves 40 research sites in the U.S, Canada and Europe and will enrol 2750 people with HCM over 2 years, followed up for up to 5 years. See Study Locations.
This study has been listed in clinicaltrials.gov (identifier NCT01915615), a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world.
Study Locations in North America and Europe:

    Ann Arbor, MI – University of Michigan
    Baltimore, MD – Johns Hopkins University
    Boston MA – Brigham and Women’s Hospital
    Boston, MA – Tufts University
    Calgary, Canada – University of Alberta
    Charlottesville, VA – University of Virginia Health System
    Chicago, IL – Northwestern University
    Cleveland, OH – Cleveland Clinic
    Durham, NC – Duke University Hospital
    Houston, TX – Houston Methodist Hospital
    Montreal, Canada – Montreal Heart Institute
    Morristown, NJ – Morristown Medical Center
    New Haven, CT – Yale University
    New York, NY – NYP/Weill Cornell Medical Center
    New York, NY – St Luke’s Hospital
    Palo Alto, CA – Stanford University
    Philadelphia, PA – University of Pennsylvania
    Portland, OR – Oregon Health Sciences University
    Rochester, MN – Mayo Clinic
    Toronto, Canada – Toronto General Hospital
    Aberdeen, UK – University of Aberdeen
    Amsterdam, Netherlands – VU University Medical Center
    Berlin, Germany – info to come
    Birmingham, UK – University Hospitals Birmingham
    Bologna, Italy – info to come
    Edinburgh, UK – Royal Infirmary of Edinburgh
    Florence, Italy – info to come
    Glasgow, UK – University of Glasgow
    Heidelberg, Germany – info to come
    Leeds, UK – University of Leeds
    Leicester, UK – Glenfield Hospital
    London, UK – Chest Hospital
    London, UK – King’s College, St Thomas’ Hospital
    London, UK – Royal Brompton Hospital
    London, UK – St George’s Hospital
    Milan, Italy – info to come
    Oxford, UK – University of Oxford
    Rome, Italy – info to come
    Rotterdam, Netherlands – Erasmus MC
    Stuttgart, Germany – info to come

Study Locations in the United Kingdom:

University of Aberdeen, School of Medicine and Dentistry
Aberdeen, Scotland, United Kingdom, AB25 2ZD

University Hospitals Birmingham (Queen Elizabeth Hospital)
Birmingham, United Kingdom, B15 2TH

Royal Infirmary of Edinburgh
Edinburgh, United Kingdom, EH16 4SB

University of Glasgow (BHF Glasgow Cardiovascular Research Centre)
Glasgow, Scotland, United Kingdom, G12 8TA
Contact: Dr. Nikolaos Tzemos

University of Leeds
Leeds, United Kingdom, LS2 9JT
Contacts: Prof. Sven Plein

Glenfield Hospital Leicester
Leicester, United Kingdom, LE3 9QP

London – Chest Hospital
London, United Kingdom, E2 9JX

London – King’s College (St. Thomas’s)
London, United Kingdom, SE1 7EH

London – Royal Brompton
London, United Kingdom, SW3 6NP

London – St George’s
St. George’s Healthcare NHS Trust
London, United Kingdom, SW17 0RE

University of Oxford,
Oxford Centre for Clinical Magnetic Resonance Research (OCMR)
Level 0, John Radcliffe Hospital
Oxford, United Kingdom OX3 9DU

Study Locations in the United States:

United States, Connecticut
Yale University
New Haven, Connecticut, United States, 06520

United States, Illinois
Bluhm Cardiovascular Institute
Northwestern University
676 North St Clair Street, Suite 1700
Chicago, IL 60611

United States, Maryland
HCM Center of Excellence & T. Abraham, M.D.
Johns Hopkins School of Medicine
Division of Cardiology
600 N. Wolfe St. / Blalock 910
Baltimore, MD 21287

United States, Massachusetts
Brigham and Women’s Hospital

United States, Oregon
Oregon Health Science University
3181 SW Sam Jackson Park Road
UHN-62 Portland, OR 97239

United States, Pennsylvania
Hospital of the University of Pennsylvania (Penn Heart and Vascular Center)
University of Pennsylvania
Heart and Vascular Center
2 East Perelman Pavilion
3400 Civic Center Boulevard
Philadelphia, PA 19104

United States, Virginia
University of Virginia Health System
Charlottesville, Virginia, United States, 22908

Study Locations in Europe

Netherlands, Amsterdam
VU University Medical Center
Amsterdam, Netherlands, 1081 HV

Netherlands, Rotterdam
Erasmus MC
Rotterdam, Netherlands, 3015 CE