Lysosomal Storage Disorders Program
Since the onset of enzyme replacement therapy for Gaucher disease in 1990, Children’s National 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.
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.
Lysosomal Storage Disorders Program Team
In This Section:
We provide a healthcare experience designed with kids in mind, and delivers confidence and assurance when parents need it most.
Have a question about a specific disease or condition or treatments or services we offer?
We see children from around the Washington, DC, area, nation, and world who need the specialized expertise and child-focused care we offer.
Our providers represent medical and surgical specialties, family practice, and general pediatrics.
Pediatric specialists work closely to ensure an integrated approach to caring for each child and family.
Children’s National offers resources for families to help answer questions and ease their experience.