The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy
| Status: | Completed |
|---|---|
| Conditions: | Cardiology, Neurology |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Neurology |
| Healthy: | No |
| Age Range: | Any - 65 |
| Updated: | 4/2/2016 |
| Start Date: | August 2007 |
| End Date: | August 2009 |
| Contact: | Andres Menesses-Diaz, MD |
| Email: | diegom@bcm.tmc.edu |
| Phone: | 832-826-5600 |
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.
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.
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
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
Inclusion Criteria:
- All patients with the diagnosis of muscular dystrophy.
Exclusion Criteria:
- Patients that do not carry the diagnosis of muscular dystrophy.
We found this trial at
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Texas Children's Hospital Texas Children's Hospital, located in Houston, Texas, is a not-for-profit organization whose...
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