Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 89
- 试验地点
- 3
- 主要终点
- Myocardial Functional Characterization
研究概览
简要总结
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD.
Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD.
Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.
详细描述
The second objective is to use their well-characterized cardiac MRI biomarkers and define their sensitivity for detecting early cardiac involvement. The final objective is to use these validated cardiac MRI biomarkers to better understand the genotype-phenotype correlation in boys with DMD, which to date remain tenuous. The investigators propose a pilot study to explore cardiac genotype-phenotype correlations in boys with DMD and outlier phenotypes using approaches they have pioneered for skeletal muscle.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 7 Years 至 21 Years（Child, Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •Healthy boys or pediatric patients with DMD age 7 to 21
- •Able & willing to complete an approximately 75-minute (or less) MRI exam without sedation or mechanical ventilation
- •Drug regimen (if applicable) stable for at least 3 months prior to participation
排除标准
- •Renal insufficiency (GFR<40 mL/min/m2)
- •Non-MRI compatible implants (e.g. neurostimulator, pacemaker, implanted cardioverter defibrillator)
- •Claustrophobia that prevents an MRI exam
- •Known allergy to MRI contrast agents
- •Serum potassium level of >5.0 mmol/L
- •Signs and symptoms of heart failure
研究组 & 干预措施
Group 1a
Group 1a comprises healthy volunteers who will complete a Cardiac MRI without contrast. A subset of healthy volunteers will have a repeat MRI at Children's Hospital of Orange County.
干预措施: Cardiac MRI without contrast (Other)
Group 1a
Group 1a comprises healthy volunteers who will complete a Cardiac MRI without contrast. A subset of healthy volunteers will have a repeat MRI at Children's Hospital of Orange County.
干预措施: Repeat MRI scan (Other)
Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County.
干预措施: Cardiac MRI with contrast (Other)
Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County.
干预措施: Blood Test (Other)
Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County.
干预措施: Heart Rate (Other)
Group 3
Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing.
干预措施: Genetic Testing (Other)
Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County.
干预措施: Pulmonary Function Test (Other)
Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County.
干预措施: Genetic Testing (Other)
Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County.
干预措施: Repeat MRI scan (Other)
Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
干预措施: Cardiac MRI with contrast (Other)
Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
干预措施: Blood Test (Other)
Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
干预措施: Heart Rate (Other)
Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
干预措施: Pulmonary Function Test (Other)
Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
干预措施: Genetic Testing (Other)
Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
干预措施: Repeat MRI scan (Other)
Group 3
Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing.
干预措施: Cardiac MRI with contrast (Other)
Group 3
Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing.
干预措施: Blood Test (Other)
Group 3
Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing.
干预措施: Heart Rate (Other)
Group 3
Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing.
干预措施: Pulmonary Function Test (Other)
结局指标
主要结局
Myocardial Functional Characterization
时间窗: 6 months
Strain imaging and rotational mechanics
Genomic Analysis
时间窗: 4 years
Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis
Myocardial Tissue Characterization
时间窗: 6 months
Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
次要结局
未报告次要终点
研究者
Daniel Ennis
Principal Investigator
Stanford University