Natural History and Treatment of Niemann Pick Disease

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DESCRIPTION (provided by applicant): 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.