Clinical Investigations of Niemann-Pick Disease, type C

C 型尼曼匹克病的临床研究

• 批准号: 7734822
• 负责人: Forbes Porter
• 金额: $ 11.44万
• 依托单位: EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7734822
• 关键词: Age; Auditory Brainstem Responses; Biological Markers; Blood; Cerebrospinal Fluid; Cerebrum; Child; Cholesterol; Clinical; Clinical Protocols; Clinical Trials; Country; Defect; Enrollment; Evaluation; Foundations; Funding; Future; Goals; Hearing; Lipids; Magnetic Resonance Imaging; Medical; Medical Research; Neurodegenerative Disorders; Neurologic; Nursing Research; Observational Study; Outcome Measure; Patients; Protocols documentation; Range; Research; Spectrum Analysis; Supraoptic Vertical Ophthalmoplegia; Therapeutic Clinical Trial; Therapy Clinical Trials; Time; Trust; Urine; Work; base; bench to bedside; cohort

Niemann-Pick Disease, type C (NPC) is a neurodegenerative disorder due to a defect in intracellular lipid and cholesterol transport. As part of a Bench-to-Bedside initiative, we initiated a clinical protocol focused on identifying and characterizing biomarkers that could be used in a subsequent therapeutic trial. Funding to support a research nurse was provided by both the Ara Parseghian Medical Research Foundation and Danas Angels Research Trust. This protocol was initiated in August 2006, and to date we have enrolled twentysix NPC patients. This is the largest cohorts of actively followed patients in this country. While most of the patients are children, the patients range in age from 4 years to 52 years. This protocol involves neurological, hearing, ophthalmological, psychiatric and medical evaluations. Blood, urine, and cerebral spinal fluid are being collected for biomarker analysis. Evaluations include magnetic resonance imaging combined with spectroscopy and auditory brainstem responses. We plan to continue to enroll new patients and follow this group over time. Our goal is to use this observational study to lay the foundation for a future therapeutic trial.

Niemann-Pick疾病，C型（NPC）是一种神经退行性疾病，这是由于细胞内脂质和胆固醇转运的缺陷。 作为基准阶层倡议的一部分，我们启动了临床方案，重点是识别和表征随后的治疗试验中可以使用的生物标志物。 ARA Parseghian医学研究基金会和Danas Angels Research Trust提供了支持研究护士的资金。 该方案于2006年8月启动，迄今为止我们已经招募了Twentysix NPC患者。 这是该国积极关注的患者的最大人群。 虽然大多数患者是儿童，但患者的年龄从4岁到52岁不等。 该协议涉及神经，听力，眼科，精神病学和医学评估。 正在收集血液，尿液和脑脊髓液以进行生物标志物分析。 评估包括磁共振成像结合光谱和听觉脑干响应。 我们计划继续注册新患者，并随着时间的流逝跟随该组。 我们的目标是利用这项观察性研究为未来的治疗试验奠定基础。