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In this webinar, Prof. Roberto Giugliani provides a comprehensive overview of the current and emerging therapies for mucopolysaccharidoses (MPS). Dr. Christina Lampe moderates the discussion and emphasizes the role of multidisciplinary care. The session covers approved therapies, experimental approaches, and the urgent need for early diagnosis and comprehensive management.
Prof. Giugliani begins by explaining how MPS results from enzyme deficiencies that disrupt the degradation of glycosaminoglycans (GAGs), leading to multisystemic GAG accumulation. The two main approved therapies are hematopoietic stem cell transplantation (HSCT), used primarily in severe MPS I, and intravenous enzyme replacement therapy (ERT), available for MPS I, II, IVa, VI, and VII. ERT improves somatic symptoms such as hepatosplenomegaly, respiratory function, endurance, and joint mobility but has limited impact on the CNS, heart valves, bones, and corneal clouding.
The session explores several alternative approaches to address these limitations:
Prof. Giugliani then details gene therapy strategies, including:
He presents therapy development status across MPS subtypes and highlights that MPS I and II have the most advanced programs. He concludes by stressing that early diagnosis—ideally through newborn screening—remains the greatest determinant of treatment success, especially before CNS damage becomes irreversible.
Dr. Lampe adds that care must also include symptomatic management, surgery, physical therapy, and psychological support to maximize quality of life in this chronic, progressive group of disorders.