About Mucopolysaccharidosis Type VII
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an extremely rare lysosomal storage disorder caused by deficiency of beta-glucuronidase (GUSB), resulting in accumulation of dermatan sulfate, heparan sulfate, and chondroitin sulfate. Clinical features range from severe hydrops fetalis and neonatal death to mild forms surviving into adulthood. Vestronidase alfa (Mepsevii) is approved as enzyme replacement therapy for non-CNS manifestations.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Mucopolysaccharidosis Type VII trials.
Vestronidase alfa (Mepsevii) is approved — trials focus on CNS outcomes, intrathecal delivery, or next-generation approaches
Beta-glucuronidase enzyme activity in leukocytes is the primary diagnostic biomarker required for enrollment
Urinary glycosaminoglycan (GAG) quantification is a key pharmacodynamic endpoint in ERT trials
MPS VII is extremely rare — contact MPS Society for disease-specific trial matching and registry enrollment
Patient Resources
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