2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Vestronidase Alfa for the Treatment of Mucopolysaccharidosis VII (MPS VII): Updated Results from a Novel, Longitudinal, Multicenter Disease Monitoring Program

Vestronidase Alfa for the Treatment of Mucopolysaccharidosis VII (MPS VII): Updated Results from a Novel, Longitudinal, Multicenter Disease Monitoring Program

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This document presents updated results from a longitudinal, multicenter Disease Monitoring Program (DMP) studying the use of vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII). MPS VII is a rare lysosomal storage disorder caused by beta-glucuronidase enzyme deficiency, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs.<br /><br />The objectives of the study are to characterize the disease presentation and progression in patients with MPS VII, assess the long-term effectiveness and safety of vestronidase alfa, and investigate biomarkers and other predictors of disease progression and mortality.<br /><br />The study enrolled 32 patients, with a mean age of 13.5 years at enrollment. Most patients were under 18 years old, and 44% were Hispanic or Latino. The study found that vestronidase alfa treatment resulted in a sustained reduction in urinary glycosaminoglycan excretion in patients, demonstrating its effectiveness.<br /><br />No patients died or discontinued the study due to adverse events, and no hypersensitivity reactions were identified. Infusion-associated reactions were reported in four patients, but they were considered unrelated to vestronidase alfa. Additional serious adverse events were reported, but they were not related to the treatment.<br /><br />The study highlights the positive risk-benefit profile of vestronidase alfa and the ongoing effectiveness of the treatment in reducing GAG accumulation in patients with MPS VII. The Disease Monitoring Program aims to provide a better understanding of the disease and its response to treatment as more patients are enrolled, providing valuable insights for the management of this rare disease.<br /><br />Overall, this study reinforces the importance of continued surveillance and treatment monitoring in patients with MPS VII and highlights the potential benefits of vestronidase alfa in improving outcomes for these patients.

Asset Subtitle

Submitter Only - Kerri Hebard-Massey, PhD; Co-Author - Roberto Giugliani, MD, PhD; Co-Author - Antonio Gonzalez-Meneses, MD; Presenting Author - Christina Grant, MD, PhD; Co-Author - Maurizio Scarpa, MD, PhD; Co-Author - Angela Sun, MD; Co-Author - Raymond Y. Wang, MD; Co-Author - Joel Hetzer, PhD; Co-Author - Deborah Marsden, MBBS, FACMG; Co-Author - J. Lawrence Merritt II, MD;

Meta Tag

Metabolic Disorder

Co-Author Roberto Giugliani, MD, PhD

Co-Author Antonio Gonzalez-Meneses, MD

Co-Author Maurizio Scarpa, MD, PhD

Co-Author Angela Sun, MD

Co-Author Raymond Y. Wang, MD

Co-Author Joel Hetzer, PhD

Co-Author Deborah Marsden, MBBS, FACMG

Co-Author J. Lawrence Merritt II, MD

Presenting Author Christina Grant, MD, PhD

Submitter Only Kerri Hebard-Massey, PhD

Keywords

Disease Monitoring Program

vestronidase alfa

mucopolysaccharidosis type VII

MPS VII

lysosomal storage disorder

beta-glucuronidase enzyme deficiency

glycosaminoglycans

biomarkers

disease progression

mortality