The MPS VII disease monitoring program (DMP) is a novel, longitudinal, cohort program with rigor beyond a traditional registry

Abstract

MPS VII is an ultra-rare, autosomal recessive, heterogeneous, debilitating, lysosomal disease in which patients are deficient in the beta-glucuronidase (GUSB) enzyme. Vestronidase alfa (recombinant human GUSB) is an approved enzyme replacement therapy for MPS VII. Given the rarity of MPS VII, there is a need to better understand disease progression and evaluate long-term treatment with vestronidase alfa. The MPS VII Disease Monitoring Program (DMP) is a multicenter program collecting long-term real world data on patients with MPS VII, regardless of treatment status. To overcome the common registry challenge of missing data, the DMP is designed to provide standardized, consistent, focused outcomes data. Site selection is based on MPS expertise and location, to maximize the number of potential patients who enroll. To ensure enrollment and retention, appropriate site compensation and travel assistance are provided. The DMP aims to enroll approximately 35 patients with MPS VII worldwide. Diagnosis will be confirmed by GUSB enzyme assay and mutation analysis. Key assessments include demographics family, medical, and diagnostic history clinical presentation assessments of cognition, mobility, skeletal disease, and pulmonary function patient/caregiver-reported outcomes and health related quality of life assessments and long-term vestronidase alfa safety and effectiveness data. Assessments occur at baseline, every 6 months for the first year (for patients ≥ 5 years) or first 2 years (for patients