Measuring Levels of SMN in Blood Samples of SMA Patients
SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro
Spinal muscular atrophy (SMA) is a disorder that affects the motor neurons. SMA is caused by a mutation in a part of the DNA called the survival motor neuron (SMN1) gene, which normally produces a protein called SMN. Because of their gene mutation, people with SMA make less SMN protein, which results in the loss of motor neurons. SMA symptoms may be improved by increasing the levels of SMN protein. The purpose of this study is to determine whether a drug called a histone deacetylase inhibitor can increase SMN levels.
After undergoing a general medical and neurological evaluation, study participants will donate a blood sample. Researchers will use this sample to measure SMN levels. They will also isolate cells from the blood and treat the cells with various drugs that may increase SMN levels.
研究概览
地位
条件
详细说明
研究类型
注册 (实际的)
联系人和位置
学习地点
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Maryland
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Bethesda、Maryland、美国、20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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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
描述
- INCLUSION CRITERIA:
Diagnosis of SMA with genetically proven mutations in the SMN1 gene or unaffected family members (age greater than or equal to 2 years).
No exposure to valproic acid or any other HDAC inhibitors for a period of at least 2 weeks.
Written, informed consent (and assent, if applicable).
EXCLUSION CRITERIA:
History of valproic acid or other HDAC inhibitor use within the past14 days.
History of bleeding disorder, which would make a blood draw unsafe.
学习计划
研究是如何设计的?
合作者和调查者
出版物和有用的链接
一般刊物
- Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13. doi: 10.1136/jmg.15.6.409.
- Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis. 1996 Apr;3(2):97-110. doi: 10.1006/nbdi.1996.0010. No abstract available.
- Nicole S, Diaz CC, Frugier T, Melki J. Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve. 2002 Jul;26(1):4-13. doi: 10.1002/mus.10110.
研究记录日期
研究主要日期
学习开始
研究完成
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
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
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