Lysosomal Storage Disorders [LSD] Program

The Lysosomal Storage Disorders [LSD] Program at the Massachusetts General Hospital, Department of Neurology and Child Neurology is affiliated with Partners Health Care and the Harvard Medical School.  The LSD program is directed by Katherine Sims, M.D.  Other staff include:  Marsha Browning, M.D., Virginia Clarke R.N. and research coordinator, Kellie Burke administrative coordinator.  Our administrative office can be reached at 617-726-5732 or contact can be made directly to Virginia Clarke at 781-826-8281 or vclarke1@partners.org

The clinic serves as a local, regional and national/international resource for the diagnostic evaluation of genetic neurodegenerative disorders for both pediatric and adult patients and their families.  In addition to evaluation and diagnosis, specialized care is delivered to patients and families with the lysosomal storage disorders including, but not limited to, Fabry, Gaucher, Pompe, Mucopolysacharide disorders [MPS] and Neuronal Ceroid Lipofuscinosis [NCL] diseases.

Genetic counseling is an area of particular expertise.  Educational and patient support programs are ongoing efforts.  Clinical care and participation in clinical research aimed at better characterizing the phenotypic variability and natural history of these disorders and in the evaluation of therapies including enzyme replacement therapy. 

Dr. Sims is a member of the National Fabry Registry Advisory Board.  Other disorders in which the staff has special expertise include, Norrie disease, neurometabolic and mitochondrial disorders.