An Interview With Dr. Raymond Wang About Mucopolysaccharidosis Type I (MPS I)

Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, provides an extensive overview of mucopolysaccharidosis type I (MPS I), also known as Hurler syndrome. In this interview, Dr. Wang explains this rare condition, including its pathophysiology, prevalence, and natural progression. He also discusses the current treatment options for MPS I as well as the work he is doing to assess the safety and efficacy of gene therapy (RGX-111) for this rare disease. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.