MEPSEVII is an enzyme replacement therapy designed to replace the deficient lysosomal enzyme beta-glucuronidase in MPS VII patients.
MPS VII is a rare genetic, metabolic lysosomal storage disorder (LSD) caused by the deficiency of beta-glucuronidase, an enzyme required for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate, chondroitin sulfate and heparan sulfate.
Limitations of Use: The effect of MEPSEVII on the central nervous system manifestations of MPS VII has not been determined.
In theory, periodic intravenous replacement of the lacking enzyme might benefit MPS VII victims.
In one set of experiments, he gave MPS VII mice intravenous doses of human beta-glucuronidase provided by John W.
Until recently, physicians had no way to identify MPS VII children before glycosaminoglycans accumulated with irreversible effects.
Beyond their usefulness for testing conventional therapies, MPS VII mice show promise as test subjects for gene therapy.
Although gene therapy for humans with MPS VII remains years away, the engineered mice hint a permanent cure for this and related disorders, Birkenmeier says.