Natural History and Treatment of Niemann Pick Disease

此K24应用程序寻求对玛格丽特·M·麦戈文医学博士的支持，她是一名职业生涯中期的活跃临床医生 有独立研究支持并参与以患者为中心的研究(FOR)的调查员。使用 在这种支持下，麦戈文博士将在与A型相关的FOR方面加强她的国际公认的计划 和B·尼曼·皮克病(NPD)，增加她对年轻研究人员的指导活动，并增加 她的研究技能。她在POR项目中的总体目标是：1)获得导演所有 临床试验阶段，包括在良好临床实践(GCP)中获得技术专长，2)建立在 她之前在生化和分子遗传学方面的培训和经验加强了她的实验室基础 研究计划，以更深入地研究NPD的肺和血脂异常，以及3) 收集与NPD疾病表现相关的试点数据，这些数据将构成未来计划拨款的基础 申请。她的具体目标是：1)继续研究人类的自然历史和疾病表现 A型和B型NPD，并进行基因表型关联；2)掌握实验室方法 评估NPD新疗法的临床疗效，包括识别疾病生物标志物的研究 3)进行临床试验，以评估 酶替代疗法(ERT)治疗这种疾病的安全性和有效性。麦戈文博士一直在 广泛参与青年调查人员的指导和教育项目的发展 与临床研究有关，包括设立临床研究硕士学位课程。 她将利用这个奖项提供的保护时间：1)扩大她对年轻调查人员的指导 对遗传疾病的POR感兴趣，包括年轻的教职员工和研究员，以及2)投入更多的时间 帮助硕士研究生选择导师和最适合他们的教育项目 需要。

This K24 application seeks support for Margaret M. McGovern, MD, PhD, an active, midcareer clinical investigator who has independent research support and is involved in patient oriented research (FOR). With this support, Dr. McGovern will enhance her internationally recognized program in FOR related to Types A and B Niemann Pick disease (NPD), increase her mentoring activities for young investigators, and increase her research skills. Her general goals related to her program in POR are to: 1) attain expertise in directing all phases of clinical trials including attaining technical expertise in good clinical practice (GCP), 2) build upon her previous training and experience in biochemical and molecular genetics to enhance her laboratory based research program in order to study the pulmonary and lipid abnormalities in NPD in greater depth, and 3) collect pilot data related to disease manifestations in NPD that will form the basis of future planned grant applications. Her specific goals are to:1) continue to study the natural history and disease manifestations of NPD Types A and B and carry out genotype phenotype correlations; 2) attain skill in laboratory methods to assess clinical efficacy of new therapies for NPD, including research to identify biomarkers of disease severity, and to study the pulmonary manifestations of the disease; and 3) carry out a clinical trial to assess the safety and efficacy of enzyme replacement therapy (ERT) for this disorder. Dr. McGovern has been extensively involved in mentoring of young investigators and the development of educational programs related to clinical research, including the establishment of a Master's degree program in Clinical Research. She will use the protected time provided by this award to: 1) expand her mentoring of young investigators interested in POR in genetic disorders including young faculty and fellows, and 2) devote more time to assisting Masters Degree candidates in selecting mentors and an educational program that best suits their needs.