LAMA2-related Muscular Dystrophy Brain Study
关键词
抽象
描述
LAMA2-MD is a congenital muscular dystrophy (CMD) subtype caused by mutations in the laminin alpha 2 gene. LAMA2-MD may present clinically as an early onset, severe phenotype or a late onset limb girdle phenotype. The early onset form is most commonly associated with a complete absence of merosin on muscle biopsy with profound neonatal hypotonia, possible respiratory distress and feeding difficulties while the late onset form presents with proximal muscle weakness, contractures and is able to achieve walking. In both early and late onset forms, brain white matter abnormalities have been described on brain MRI and approximately 8-30% develop a seizure disorder. On magnetic resonance (MR) spectroscopy, white matter changes are shown to be due to increased water content rather than areas of demyelination. Both, non-ambulant and ambulant patients may develop respiratory insufficiency requiring non-invasive ventilation and scoliosis.
Although several studies have evaluated the correlation between brain MRI white matter changes and cognition, no studies to date have provided a systematic evaluation of brain imaging, electrophysiologic testing and seizures in patients identified by molecular or immunohistochemical testing to have LAMA2-MD.
日期
最后验证: | 09/30/2015 |
首次提交: | 09/18/2013 |
提交的预估入学人数: | 09/23/2013 |
首次发布: | 09/26/2013 |
上次提交的更新: | 03/04/2018 |
最近更新发布: | 03/06/2018 |
实际学习开始日期: | 10/31/2013 |
预计主要完成日期: | 10/31/2014 |
预计完成日期: | 11/30/2014 |
状况或疾病
相
资格标准
有资格学习的性别 | All |
取样方式 | Non-Probability Sample |
接受健康志愿者 | 是 |
标准 | Inclusion Criteria: - Genetic confirmation of 2 variants in LAMA2 gene OR muscle biopsy with complete absence of merosin - Complete authorization to obtain medical records for Congenital Muscle Disease International Registry - Complete authorization to obtain medical records for National Institutes of Health (NIH) - Reside in United States or Canada - Complete registration and intake survey in the Congenital Muscle Disease International Registry Exclusion Criteria: - Individuals with LAMA2-MD who have not had a brain MRI |
结果
主要结果指标
1. Identify and grade the structural brain abnormalities observed on MRI [up to 5 months]
次要成果指标
1. Seizure History [up to 8 months]
2. Evaluation of baseline and diagnostic electroencephalograms [up to 8 months]
3. Examine the association between brain MRI structural abnormalities and EEG findings [up to 11 months]