Margaret M McGovern, PhD, MD

Dr. McGovern is carrying out research in the lysosomal storage diseases, and Niemann Pick disease due to acid sphingomyelinase deficiency on particular.  These studies are focused on the delineation of the natural history of the disease and the evaluation of new treatment for this disorder.  The natural history studies have focused on a careful characterization of the disease phenotype in a cohort of patients enrolled in an IRB approved study.  Patients are evaluated on the General Clinical research Center (GCRC) and undergo comprehensive clinical and clinical laboratory studies to determine the extent of disease involvement in the primary target organs.

To date these studies have: 1) documented the extent of pulmonary disease in affected patients, 2) revealed that retinal stigmata can occur even on the absence of progressive neurologic disease, 3) investigated the nature of the lipid abnormality in these patients which are characterized by low HDL-Cholesterol levels and increased risk for coronary artery disease, and 4) provided detailed information o the disease course in the fatal Type A form do the disease.
Results of a 10 year longitudinal study also have been reported and provide details related to progression of the pulmonary and hepatic disease.  A study in children was carried out to examine in detail the abnormalities in growth that accompany the disorder.  Most recently a retrospective natural history study has begun which is designed to collect even more detailed data related to disease progression.

Evaluation of enzyme replacement therapy for Niemann Pick disease is now being carried out under Dr. McGovern's direction in the GCRC.  This Phase I trial will enroll fifteen subjects to assess safety of the therapy.