Development of a multimodal biomarker platform for predictive risk stratification of cardiac disease in Duchenne muscular dystrophy
What is the goal of the study?
Aim 1: Create a consortium of DMD clinical investigators with standardized cardiac imaging protocols. Objectives: We will construct a consortium of four centers with expertise in DMD CM care, creating the largest cohort of DMD patients with rigorous cardiovascular phenotyping. This consortium will help overcome the sample size limitations inherent in this rare disease and create a network for future DMD CM drug trials. Aim 2: Identify serum biomarkers of fibrosis that characterize DMD CM disease severity. Hypothesis 1: Serum biomarkers of fibrosis, including MMPs and OPN, will differentiate DMD cardiac disease severity. Aim 3: Define the longitudinal progression of DMD CM in the current era and determine serum and imaging measures of myocardial fibrosis that herald a subsequent change in cardiac function. Hypothesis 4: A prospective, systematic evaluation of cardiac and skeletal muscle disease progression using CMR, quantitative muscle testing, and accelerometry will lead to a more complete understanding of DMD disease course in the setting of current treatment regimens. This understanding of phenotype variability will allow determination of optimal sample sizes and outcome measures for clinical trials. Hypothesis 5: Serum and imaging biomarkers, specifically T1 and ECV mapping, MMPs, and OPN, define abnormalities that precede a decrease in left ventricular ejection fraction (LVEF). Aim 4: Identify the proportion of patients with severe/aggressive phenotype and discover genetic polymorphisms that determine DMD CM severity. Hypothesis 1: An unbiased approach to assessment of genetic polymorphisms will discriminate between patients with severe /aggressive and mild /benign phenotypes
Who can participate in the study?
Please contact the study team listed below to learn more.