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Natural history study of x-linked Dystonia Parkinsonism

X连锁肌张力障碍帕金森病的自然史研究

基本信息

批准号：
10053483
负责人：
NUTAN SHARMA
金额：
$ 21万
依托单位：
MASSACHUSETTS GENERAL HOSPITAL
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-06-15 至 2022-05-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10053483
关键词：
Affect Biological Blood Cerebrospinal Fluid Clinical Clinical Investigator Clinical Research Clinical Trials Clinical effectiveness Cognitive Collaborations Collection DNA Data Disease Disease Progression Dystonia Etiology Family member Female Filipino Gender General Hospitals Genetic Research Goals Grant Individual Island Lead Link Liquid substance Massachusetts Measurement Measures Molecular Mothers Motor Natural History Neurodegenerative Disorders Neurologist Oropharyngeal Outcome Measure Parkinson Disease Parkinsonian Disorders Participant Pathology Patient Self-Report Patients Performance Phenotype Philippines Physiological Predictive Value Principal Investigator Public Health Schools Rare Diseases Research Research Methodology Research Personnel Research Training Severities Surrogate Endpoint Syndrome Therapeutic Clinical Trial Tissues Training Training Programs United States Woman base biobank biomarker identification career cohort drug development genetic testing improved male men molecular marker predictive marker prognostic programs

项目摘要

Project Summary X-linked dystonia Parkinsonism (XDP) is a neurodegenerative disease that affects men whose mothers originate from the island of Panay, Philippines. Due to the relatively isolated region in which those with XDP live, and the rarity of the disease itself, limited data regarding the natural history is currently available. The goal of this application is to solidify an already established collaboration for a natural history study and the collection of DNA and other biological fluids. Natural history studies are important for understanding the etiology, range of manifestations and progression of a rare disease. Biospecimens are crucial to understand the underlying pathology at both the molecular and cellular level. In addition, investigators in the Philippines will undergo training in clinical research methodology in the United States. The training will improve their ability to conduct independent research on XDP in the Philippines.

项目摘要 X连锁肌张力障碍帕金森综合征（XDP）是一种影响男性的神经退行性疾病其母亲来自菲律宾班乃岛。由于相对 XDP患者生活的孤立地区，以及疾病本身的罕见性，关于自然历史的数据目前是可用的。此应用程序的目标是巩固已经建立的自然历史研究和收藏合作 DNA和其他生物液体。自然史研究对于理解罕见疾病的病因、表现范围和进展。生物标本是这对于在分子和细胞水平上理解潜在的病理学至关重要。在此外，菲律宾的研究人员将接受临床研究培训，方法论在美国。培训将提高他们的指挥能力菲律宾XDP的独立研究。