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Lysosomal Storage Disorders Program

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Children's National offers comprehensive management and treatment for patients with Lysosomal storage disorders (LSDs) serving the mid-Atlantic area in addition to international patients. In collaboration with Children's National CTSI and Clinical Research Center we coordinate numerous clinical research trials and other studies in the field of LSDs.

Our Services include:
  • Identification of LSDs in pediatric and adult patients
  • Genetics and Metabolism Clinic appointments available in DC and Fairfax
  • Genetic counseling for patients and family members
  • Coordination of multidisciplinary care
  • Continuity of care and long term follow-up
  • Metabolic nutrition services
  • Multidisciplinary clinic with muscular dystrophy association clinic (MDA)
  • Coordination of disease specific treatment including Enzyme Replacement Therapy and other approved therapies for conditions such as:
    • Gaucher disease, Fabry disease, Mucopolysaccharidosis type I, II, and VI, Pompe disease, Juvenile gangliosidosis type I and II
  • Immune modulation for CRIM negative infantile Pompe disease
  • Bone marrow/hematopoietic stem cell transplantation for a few neuropathic LSDs

Our Research includes:
Clinical Trials for
  • Pompe disease
  • Mucopolysaccharidosis type IVA LSD Registry Studies

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