The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2007 by Baylor College of Medicine.
Recruitment status was  Not yet recruiting
Information provided by:
Baylor College of Medicine Identifier:
First received: August 17, 2007
Last updated: August 20, 2007
Last verified: August 2007
This study will have significant impact on muscular dystrophy patients as it promotes early screening for heart disease. With early identification, beneficial medical therapy can be started sooner, resulting in restoring and maintaining normal heart function. This is critical to the survival of these patients. We have reported previously that heart failure in all patients may have common mechanisms, the "final common pathway". Heart failure is a significant health problem with 5 million people in the US carrying the diagnosis and accounting for 12-15 million office visits and 6.5 million hospital days per year. The number of deaths from heart failure continues to increase. The data from this study could impact patients worldwide with heart failure by offering new insight into an ever-growing disease population and lead to significant changes in how they are currently treated.

Muscular Dystrophy
Dilated Cardiomyopathy
Heart Failure

Study Type: Observational
Study Design: Observational Model: Defined Population
Primary Purpose: Screening
Time Perspective: Longitudinal

Resource links provided by NLM:

Further study details as provided by Baylor College of Medicine:

Estimated Enrollment: 60
Study Start Date: August 2007
Estimated Study Completion Date: August 2009
Detailed Description:

Objective(s) and Hypothesis(es): The objectives to be evaluated are as follows:

Specific Hypothesis #1: Heart disease, specifically dilated cardiomyopathy, can be identified early in patients with muscular dystrophy and allow for earlier institution of medical therapies

Specific Hypothesis #2: Non-invasive testing via magnetic resonance imaging (MRI) and echocardiography can identify early systolic and diastolic dysfunction in patients with muscular dystrophy as well as document structural changes ("Reverse remodeling") following institution of medical therapy

Specific Hypothesis #3: Serologic testing can identify early cardiac dysfunction prior to changes on magnetic resonance imaging or echocardiogram that can predict disease onset, risk stratify future cardiac morbidity and mortality, and response to medical therapy

Specific Hypothesis #4: Specific dystrophin mutations can be identified that predict the onset or protection against dilated cardiomyopathy

Specific Hypothesis #5: Construction and maintenance of a database of patients with muscular dystrophy can be established that will allow for future research in patients with muscular dystrophy, specifically in the area of gene therapy

Specific Hypothesis #6: Quality of life in patients with cardiac disease can be assessed and used to modulate therapy and also allow for noncardiac directed therapies that will improve overall well-being

Specific Hypothesis #7: Further understanding of neurohormonal profiles, responses to medical therapy, and dystrophin mediated cardiomyopathy will impact all patients with heart failure world-wide


Ages Eligible for Study:   1 Month to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • All patients with the diagnosis of muscular dystrophy.

Exclusion Criteria:

  • Patients that do not carry the diagnosis of muscular dystrophy.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00518817

Contact: Andres Menesses-Diaz, MD 832-826-5600

United States, Texas
Texas Children's Hospital Not yet recruiting
Houston, Texas, United States, 77030
Contact: Andres Menesses-Diaz, M.D.    832-826-5600   
Principal Investigator: John L Jefferies, MD, MPH         
Sponsors and Collaborators
Baylor College of Medicine
Principal Investigator: John L Jefferies, MD Baylor College of Medicine
Study Director: Jeffrey A Towbin, MD Baylor College of Medicine
  More Information

No publications provided Identifier: NCT00518817     History of Changes
Other Study ID Numbers: Thrasher 
Study First Received: August 17, 2007
Last Updated: August 20, 2007
Health Authority: United States: Institutional Review Board

Keywords provided by Baylor College of Medicine:

Additional relevant MeSH terms:
Cardiomyopathy, Dilated
Muscular Dystrophies
Cardiovascular Diseases
Genetic Diseases, Inborn
Heart Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases processed this record on February 11, 2016