Metabolomic Biomarkers of Myotonic Dystrophy
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of myotonic dystrophy by examining a urine sample and a blood sample, and performing muscle function testing. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human myotonic dystrophy.
研究概览
地位
条件
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名：Tamkin Shahraki, MD
- 电话号码：617-726-7506
- 邮箱：tshahraki@mgh.harvard.edu
学习地点
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Massachusetts
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Boston、Massachusetts、美国、02114
- 招聘中
- Massachusetts General Hospital
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接触：
- Tamkin Shahraki, MD
- 电话号码：617-726-7506
- 邮箱：tshahraki@mgh.harvard.edu
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-
参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
Individuals with myotonic dystrophy Individuals without myotonic dystrophy
描述
Inclusion Criteria:
- Individuals with myotonic dystrophy
- Individuals without myotonic dystrophy
- Ages 14 years and older
Exclusion Criteria:
- State of immunosuppression
- Coagulopathy
- Use of anticoagulants within 60 days prior to blood draw
学习计划
研究是如何设计的？
设计细节
- 观测模型：COHORT
- 时间观点：PROSPECTIVE
队列和干预
团体/队列 |
|---|
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Myotonic dystrophy
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Unaffected
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Extracellular vesicle metabolite profile
大体时间：Five years
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The extracellular vesicle metabolite profile in the myotonic dystrophy group will be evaluated and compared with the extracellular vesicle metabolite profile in the control group. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity. |
Five years
|
合作者和调查者
出版物和有用的链接
一般刊物
- Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.
- Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun.
- Kumari P, Sullivan LM, Li Z, Parker Conquest E, Cornforth E, Jayakumar R, Hu N, Alexander Sizemore J, McKee BB, Kitchen RR, Gonzalez-Perez P, Linville C, Castro K, Gutierrez H, Samaan S, Townsend EL, Darras BT, Rutkove SB, Iannaccone ST, Clemens PR, Puwanant A, Das S, Wheeler TM. Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1. Nat Commun. 2025 Mar 5;16(1):2158. doi: 10.1038/s41467-025-56479-5.
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.