Several leading HCM programs are continuing work on genetics within research and other areas that offer promise and hope of better understanding, treating and hopefully some day STOPPING HCM.   We encourage you to discuss participation in these important programs and help us all by participating in the research realm in hopes it will lead to better testing, treatment and one day maybe even a cure.

The HCMA is  currently conducting several online surveys a part of our research efforts.  Click here to see what current surveys are available to participate in.

To learn more about research opportunities call the HCMA office at 973-983-7429

Active protocols seeking patients:

HCMA insight:

The need for greater understanding of the genetics behind HCM is imperative.  This multi center study is a unique and important step in collecting this critical data.  We encourge all HCM families to read this information very carefully and consider participation.

USING GENETICS FOR EARLY PHENOTYPING AND PREVENTION OF HYPERTROPHIC CARDIOMYOPATHY
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an inherited heart problem. HCM affects about 1
out of every 500 to 1000 people. People with HCM have unexplained thickening of the heart wall. This
thickening of the heart is also called left ventricular hypertrophy, or LVH. HCM can put people at increased
risk for heart failure and dying suddenly. HCM is caused by changes (mutations) in genes that control how
the heart pumps. These genes are called sarcomere genes. Although most people who inherit a sarcomere
gene mutation will eventually develop HCM, it is often hard to detect HCM early in life.
Genetic testing allows us to identify family members who carry a mutation and are at risk for developing HCM
before the heart has obviously changed. Therefore, people who are likely to develop HCM can be identified
before their doctors can diagnose them with this condition. By studying people with gene mutations before
they are diagnosed with HCM, we hope to gain a better understanding of how the gene mutations lead to the
development of HCM. This information will allow us to design new treatments which will hopefully be able to
delay, decrease, or prevent HCM from developing.

HCM♥Net: We have established a network of experienced and committed doctors at different centers across
the country. These doctors will work together with a common goal of improving our understanding of HCM
and improving treatment in the future.
STUDY OUTLINE:
Criteria: People and families with HCM, including:
- People with HCM
- People who carry sarcomere gene mutations but have not yet developed HCM
- Healthy family members who do not carry the mutation to use for comparison

If you or your family has not yet had genetic testing performed:
Genetic testing is available free of charge for eligible individuals interested in study participation.

Time Commitment:
The study typically involves a single visit to one of the HCM♥Net centers. This visit may be combined with
scheduled doctor’s appointments and tests. Participants will undergo testing, including:
- Blood draws
- Exercise testing on a treadmill
- EKG (recording the heart’s rhythm)
- Echocardiography (ultrasound pictures to look at the heart)
- Cardiac MRI (harmless magnetic field pictures to look at the heart)

The entire study visit will take about 5-6 hours.
Testing that is not planned as part of your regular medical care will be covered free of charge by the study

HCM♥Net Sites
Brigham and Women’s Hospital Boston, MA
Children’s Hospital Boston, MA
Cleveland Clinic Foundation Cleveland, OH
Cincinnati Children’s Hospital Cincinnati, OH
University of Chicago Chicago, IL
University of Colorado Denver, CO
Johns Hopkins University Baltimore, MD
University of Michigan Ann Arbor, MI
St. Luke’s Roosevelt Hospital New York, NY
Stanford University Palo Alto, CA
Vanderbilt University Nashville, TN
Washington University St. Louis, MO

Contact Information:
Carolyn Ho, MD                                 Allison Cirino, CGC
617-732-5685                                         617-732-7921
cho@partners.org                            acirino@partners.org

HCMA insight:

The Seidman laboratory has been a leader in cutting edge HCM genetics research.   While we know many of the genes that cause HCM, we are still searching for 30-35% of the genes that cause HCM.  Our members and families can help to discover new genes and help our global HCM community better understand the genes that cause HCM. 

HCM Genetics Research Study- The Seidman Research Laboratory is currently enrolling subjects in a research study looking for novel (new?) gene mutations in HCM patients who have previously undergone HCM genetic testing with negative results (ie., no mutation was found/identified).

Inclusion Criteria:

·         Clinical diagnosis of HCM (clinical records will be requested)
·         Have undergone Genetic testing at a commercial laboratory (LMM, Gene Dx,  Correlagen,  etc. – copy of genetic results/reports will be requested)
·         Genetic testing –negative (No mutation found)
Study Requirements:

·         Blood sample
·         Informed Consent form for research participation - signed
·         Copies of cardiac records (ecg, echocardiogram reports) requested
·         Copy of previous genetic testing results requested 
Drs. Christine and Jon Seidman and their colleagues at Harvard Medical School and Brigham and Women’s Hospital have 20 years’ experience in researching genetic factors that cause and/or contribute to Hypertrophic Cardiomyopathy (HCM). In 1990, the Seidman Lab identified a mutation in the myosin heavy chain gene, the first gene linked to HCM. Subsequently, over 700 mutations in 11 additional HCM genes have been identified.  The participation of HCM patients and their family members in research based studies was critical in leading to the development of the first commercially available clinical genetic screening test, and has heightened awareness of the inheritable component of HCM.  Several commercial screening tests are now available.

Despite the numerous genetic discoveries known to result in HCM, there remains a substantial percentage (30-35%) of genotyped patients diagnosed with familial HCM, but lacking a genetic explanation. Investigators in the Seidman Laboratory continue to research genetic causes in individuals with HCM and negative genetic test results.

If you are interested in learning more about the study, please contact Dr. Seidman’s office via nurses- Barbara McDonough or Libby Sparks  617-432-1006 mcdonough@genetics.med.harvard.edu lsparks@genetics.med.harvard.edu.

HCMA insight:

Dr. Martin Maron is investigating the use of a previously FDA approved medication for use in patients with Hypertrophic Cardiomyopathy to evaluate its ability to inhibit or regress fibrosis and reduce cardiac mass. This is an ambitious and exciting research endeavor that many prove to provide patients with HCM with a new drug option. This marks the first new drug used in the treatment and management of HCM in nearly 30 years. It is the hope of the HCMA, and all HCM patients, that we find better methods of treatment to improve quality of life, length of life and work toward eradicating HCM; this is but one step toward that end. Those who are interested in learning more about this particular protocol are encouraged to contact Dr. Maron at the number noted below.

Dr. Martin Maron, of Tufts-New England Medical Center in Boston, is investigating the efficacy of a drug called spironolactone in patients with Hypertrophic Cardiomyopathy (HCM). Spironolactone is currently an FDA-approved drug for use in other forms of heart disease, where it has been shown to improve outcome primarily by decreasing myocardial scarring and fibrosis. The goal of this study is to determine if spironolactone can decrease scarring and improve heart function and symptoms in patients with either obstructive or nonobstructive HCM. If you are interested in learning more about the study, please contact Dr. Martin Maron at mmaron@tufts-nemc.org; 617 636-8066.

3. HCMA insight:

Dr. Carolyn Ho is conducting research of a previously FDA approved medication for use in patients who are genetically positive for Hypertrophic Cardiomyopathy gene mutations but have not yet shown clinical signs of HCM (no left ventricular hypertrophy on echocardiogram). This is a new and incredibly promising area of research for the HCM community. It may be the first opportunity we have had to alter the presentation of HCM by use of common and safe cardiac medications. The HCMA, and all HCM patients, have high hopes for this research endeavor. Those who are interested in learning more about this particular protocol are encouraged to contact Dr. Carolyn Ho at the number noted below.

Dr. Carolyn Ho, of Brigham and Women's Hospital in Boston, is studying the use of diltiazem in individuals with Hypertrophic Cardiomyopathy (HCM) who are found to carry a sarcomere gene mutation but do not yet have left ventricular hypertrophy. The goal of this study is to see if diltiazem can slow the development of HCM in preclinical family members. If you are interested in learning more about the study, please contact Dr. Ho at cho@partners.org; 617-732-5685.

Research is underway in many major centers around the world. The HCMA keeps in regular contact with many of these centers and maintains a registry of published papers and articles in the field of HCM and related areas. As many of these articles/papers are older, the links no longer work (or were never available on the web). We do maintain a rather complete library of materials at the office. Should you need particular information feel free to contact the HCMA office. This page will feature links to recent articles updated on a monthly basis. Many of these articles are geared toward the medical community and may be difficult for patients and families to follow.