The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00518817
Recruitment Status : Unknown
Verified August 2007 by Baylor College of Medicine.
Recruitment status was:  Not yet recruiting
First Posted : August 21, 2007
Last Update Posted : August 21, 2007
Information provided by:
Baylor College of Medicine

Brief Summary:
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.

Condition or disease
Muscular Dystrophy Dilated Cardiomyopathy Heart Failure

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

Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Defined Population
Primary Purpose: Screening
Time Perspective: Longitudinal
Time Perspective: Prospective
Study Start Date : August 2007
Estimated Study Completion Date : August 2009

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Month to 65 Years   (Child, Adult)
Sexes Eligible for Study:   All
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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 Identifier: NCT00518817     History of Changes
Other Study ID Numbers: Thrasher
First Posted: August 21, 2007    Key Record Dates
Last Update Posted: August 21, 2007
Last Verified: August 2007

Keywords provided by Baylor College of Medicine:

Additional relevant MeSH terms:
Heart Failure
Muscular Dystrophies
Cardiomyopathy, Dilated
Heart Diseases
Cardiovascular Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn