Since the onset of enzyme replacement therapy for Gaucher disease in 1990, Children’s National Hospital has been the regional center for the diagnosis and management of children and adults with lysosomal storage disorders (LSDs). Our LSD program combines advanced clinical care with opportunities for participation in clinical and basic research.
Our team members have extensive experience in the care of children and adults with LSDs such as Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis types I-VII, as well as conditions such as Farber disease, Lysosomal acid lipase deficiency (LALD or Wolman disease) and Niemann Pick disease. Our clinic provides care for more than 70 children and adults with these rare disorders.
Our program offers diagnosis, evaluation, and treatment of LSDs. We coordinate care for our patients with numerous other specialists such as cardiology, orthopedics, otolaryngology, pulmonology, neurology, muscular dystrophy association clinic, ophthalmology, neurology, developmental pediatrics, bone marrow transplant, white matter disease multidisciplinary clinic, and anesthesiology.
We partner with our hospital’s infusion clinics (at our main hospital in D.C. and in Falls Church, VA) and local home infusion nursing companies to provide enzyme replacement therapies for Gaucher, Fabry, and Pompe disease, lysosomal acid lipase deficiency, as well as MPS I (Hurler Syndrome), II (Hunter Syndrome), IVA (Morquio A Syndrome), VI (Maroteaux-Lamy Syndrome) and VII (Sly Syndrome).
Our LSD program has participated in numerous clinic trials for the evaluation of new treatments for LSDs as well as contributing to the understanding of LSDs through natural history and patient registry studies. If you would like to learn more about the current research studies ongoing at our center, please contact us.
Resources for Families
At Children’s National, we understand that families have many questions about their child’s condition and care. Your care providers may offer specific resources, but we also have online resources available to answer your questions and connect you with the information you need.
Lysosomal Storage Disorders - Helpful Web Sites
Our program is located at the Rare Disease Institute on the Research & Innovation Campus in Washington, D.C.
Related Care Services
We take a team approach to care, where all specialties and departments are integrated to offer the best care for each patient and family. Our team collaborates with specialists in other departments to offer the best care possible.
To make an appointment, please call 202-545-2500. You may also email us.