The Boston Children's Lysosomal Storage Disorders (BoLD) Program is a multidisciplinary, patient-centered program for children and adults with known lysosomal storage disorders. In addition, the BoLD program is a referral site for all patients with suspected lysosomal storage disorders across the age span.
Lysosomal storage disorders are caused by missing enzymes, leading to a buildup of potentially harmful substances. Symptoms may include developmental delay, intellectual disability, frequent ear infections, inguinal hernias, low tone, hearing loss, enlargement of the liver and spleen, joint restrictions, and coarse facial features, as well as bone, lung, and heart problems. More than 50 lysosomal storage disorders are known to date, including various subtypes of mucopolysaccharidosis (MPS) such as Hurler syndrome (MPSI), Hunter Syndrome (MPSII), Sanfilippo syndrome (MPSIII A, B, C, and D), and Morquio syndrome (MPSIVA), as well as other lysosomal disorders such as Gaucher disease (types 1, 2 and 3), Pompe disease (infantile and late onset), Fabry disease, Niemann Pick C disease, ASMD deficiency, alpha-mannosidosis, and all other oligosaccharidoses and various subtypes of mucolipidosis, to name a few. Early diagnosis is critical to initiate timely therapy and counsel families about recurrence risk for future pregnancies. The BoLD program is also one of two sites in Massachusetts for the follow up of positive newborn screening cases identified by the New England newborn screening program to be at risk for MPSI or Pompe disease.
Why Boston Children’s Hospital?
We offer integrated, individualized, multidisciplinary inpatient and outpatient care for all patients with lysosomal storage disorders, as well as market-approved treatments and access to clinical trials when available. In addition, our team maintains close ties with a number of family support groups and patient advocacy groups who provide families facing similar challenges with additional support and helpful educational information.