Lysosomal Storage Disorders Program
Since the onset of enzyme replacement therapy for Gaucher disease in 1990, Children’s National Medical Center has been the regional center for the diagnosis and management of children and adults with lysosomal storage disorders (LSDs). As the largest program in the mid-Atlantic, the LSD program combines advanced clinical care with opportunities for participation in clinical and basic research.
Our team members from the Division of Genetics and Metabolism have extensive experience in the care of children with LSDs affecting the central nervous system, including Tay-Sachs disease. The clinic coordinates care for more than 60 children and adults with these rare disorders. View diagnoses currently managed in the program.
The program offers diagnosis and evaluation of LSDs at a weekly clinic, substrate reduction, and pharmacologic chaperone therapy for LSDs. We also provide enzyme replacement therapy infusions for Gaucher, Fabry, and Pompe disease, as well as MPS I (Hurler Syndrome), II (Hunter Syndrome), and VI (Marateaux-Lamy Syndrome).
To ensure that children continue to receive appropriate care as adults, Children’s National coordinates with the Washington Hospital Center to support a continuum of subspecialty care into adulthood.
Research at Children’s National
We endeavor to continually discover new therapies that improve the quality of life and outcomes for children and adults affected by these rare disorders. The program participates in a variety of basic and clinical research projects on LSDs including:
• Studies concerning Gaucher, Pompe, Tay-Sachs, and Sandhoff diseases
• Studies on GM1 and GM2 gangliosidoses
• National Institutes of Health (NIH) collaborative studies on neurodegeneration in GM1 & GM2 gangliosidoses
To learn more about ongoing studies please contact Sandra Yang, Program Coordinator at 202-476-4168.
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