Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 250
- 试验地点
- 1
- 主要终点
- Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging
研究概览
简要总结
Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.
详细描述
Four cohorts are enrolled in this study. The target population is the cohort of genetically confirmed DMD/BMD female carriers (Cohort A). This cohort will consist of 150 DMD/BMD mothers who are somatic carriers of a mutation in the DMD gene. The data collected for this cohort will be compared to three control groups; Control Group B is a cohort of 50 DMD/BMD mothers who are NOT somatic carriers, Control Group C is a cohort of 50 age-matched healthy controls and Control Group D is a cohort of 25 genetically confirmed carriers who do not have an affected child. The inclusion of a Control Group B allows for a comparison to a group of mothers that share the emotional and cognitive burden of caring for an affected male without having the physical or cognitive risks of being a female carrier. The Control Group C offers robust data from an age-matched healthy cohort for purposes of comparison. Control Group D allows for comparison to a group of women that have the same physical or cognitive risks as the Cohort A female carriers, but do not have the same burden of care giving.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Age >18 years
- •Cohort A requires a genetically confirmed mutation in the DMD gene with an affected child
- •Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene
- •Cohort C age-matched healthy controls with a normal CK level
- •Cohort D requires a genetically confirmed mutation in the DMD gene without an affected child
- •Able to complete testing in English
- •Able to consent
排除标准
- •Subjects with a contraindication to cardiac or skeletal muscle MRI
- •Subjects on heart failure medication at time of enrollment
- •Subjects on steroid treatment
- •Presence of an inherited neurologic disease or comorbidity that may affect their ability to complete this study
- •Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability
结局指标
主要结局
Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging
时间窗: 2 years
Cardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.
次要结局
- Cardiac Function Assessment Treadmill SVO2(2 years)
- Physical Therapy Assessments ACTIVE-seated(2 Years)
- Laboratory biomarkers - Creatine Kinase(2 Years)
- Laboratory biomarkers - Interleukin-6(2 Years)
- Physical Therapy Assessments Maximum Voluntary Isometric Contraction Testing(2 Years)
- Physical Therapy Assessments Time-to-Rise(2 Years)
- Physical Therapy Assessments 6 Minute Walk Test(2 years)
- Laboratory biomarkers - C-Reactive Protein(2 Years)
- Caregiver Stress(2 Years)
- Pulmonary function testing (PFTs)(2 Years)
- Laboratory biomarkers - Cortisol levels(2 Years)
- Cognitive Assessment(2 Years)
研究者
May Ling Mah
Principal Investigator
Nationwide Children's Hospital