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Brain Connectivity Signatures of Behavior and Cognition in Duchenne Muscular Dystrophy

杜氏肌营养不良症患者行为和认知的大脑连接特征

基本信息

批准号：
10355348
负责人：
Shantanu H. Joshi
金额：
$ 42.9万
依托单位：
UNIVERSITY OF CALIFORNIA LOS ANGELES
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-09-30 至 2025-03-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10355348
关键词：
15 year old Active Sites Age Anterior Area Atlases Behavior Biological Markers Birth Brain Brain Mapping Brain imaging Cardiac Child Chromosome Mapping Clinical Clinical Trials Cognition Cognitive Cognitive deficits Corpus Callosum Data Diffusion Magnetic Resonance Imaging Disease Disease Progression Duchenne muscular dystrophy Dystrophin Emotions Enrollment Europe Exons Functional Magnetic Resonance Imaging Future Gene Delivery Gene Expression Gene Expression Profile Genes Genetic Goals Human Image Imaging technology Impulsivity Individual International Joints Life Expectancy Link Longevity Magnetic Resonance Imaging Maps Measures Muscle Muscle Weakness Muscle function Muscular Dystrophies Musculoskeletal System Mutation Myocardial dysfunction Myocardium National Institute of Neurological Disorders and Stroke Neurocognitive Neurologic Neuromuscular Diseases Outcome Parietal Lobe Participant Patients Pattern Pharmaceutical Preparations Pilot Projects Prefrontal Cortex Prevalence Protein Isoforms Protocols documentation Relaxation Reporting Research Resolution Rest Role Steroids Structure Survival Rate System Therapeutic Thick Time Variant Wheelchairs base behavioral phenotyping biomarker discovery biomarker signature boys brain abnormalities brain morphology clinical care cognitive ability cognitive function connectome executive function exon skipping gray matter imaging biomarker imaging study improved male morphometry multimodality muscle degeneration nervous system disorder neurobehavioral neuroimaging novel optimism prisma rehabilitation management skeletal transcriptome transcriptomics white matter

项目摘要

PROJECT SUMMARY Therapies (drugs and genetics-based) in Duchenne Muscular Dystrophy (DMD) are targeted towards improving muscle function and arresting the progression of disease. As a result, the skeletal and even the cardiac musculature are well researched. However, studies focusing on brain structure have been sparse even though varying cognitive deficits have been reported across the spectrum. With advancing treatments, such as exon skipping, as well as steroid alternatives such as VBP15 moving to human trials, there is renewed optimism about improving the life expectancy and quality of patients with DMD. Consequently, a better understanding of the brain structure and its putative link with cognitive function becomes important. Our plan is to collect pilot brain imaging data in 36 children (24 children with DMD and 12 healthy controls, both 8~21 years) using cutting-edge imaging protocols from the Human Connectome Project. Our overarching goal is to identify a brain connectivity biomarker of cognition in DMD by investigating the potential of structural neuroimaging signatures and functional connectomic motifs and relating them to gene expression profiles in the brain.

项目概要杜氏肌营养不良症 (DMD) 的治疗（基于药物和遗传学）旨在改善肌肉功能和阻止疾病的进展。结果，骨骼甚至心脏肌肉组织经过充分研究。然而，尽管如此，针对大脑结构的研究却很少。据报道，各种认知缺陷都有所不同。随着先进的治疗方法，例如外显子跳过，以及 VBP15 等类固醇替代品进入人体试验，人们对提高 DMD 患者的预期寿命和生活质量。因此，可以更好地了解大脑结构及其与认知功能的假定联系变得重要。我们的计划是收集飞行员的大脑使用尖端技术对 36 名儿童（24 名 DMD 儿童和 12 名健康对照，年龄均为 8~21 岁）进行影像数据分析来自人类连接组计划的成像协议。我们的首要目标是确定大脑连接通过研究结构神经影像特征和功能的潜力，研究 DMD 认知的生物标志物连接组基序并将它们与大脑中的基因表达谱联系起来。