Abstrato

Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux “Lamy syndrome)

Michael Beck

Since enzyme-replacement therapy has been successfully introduced for patients with Gaucher disease, Fabry disease and mucopolysaccharidosis Type I, the principle of this treatment has also been taken into consideration for individuals who are affected by mucopolysaccharidosis Type VI (Maroteaux–Lamy disease), a rare lysosomal storage disorder with multiple organ and tissue involvement. After enzyme-replacement therapy with recombinant human arylsulfatase B in a feline model of mucopolysaccharidosis VI showed a reduction in storage vacuoles in Kupffer cells and connective tissue, clinical trials were intitiated. A Phase I/II trial showed that regular infusions of recombinant arylsulfatase B were able to reduce urinary glycosaminoglycan excretion. In all patients, general endurance and shoulder range of motion improved. These results were confirmed by a following open-label Phase II study with ten patients who had more rapidly advanced disease. After a Phase III (double-blind, placebo-controlled) study had demonstrated the clinical efficacy of weekly infusion of recombinant human arylsulfatase B, this enzyme preparation was approved by the US Food and Drug Administration for the treatment of patients with mucopolysaccharidosis Type VI. The efficacy and safety of the enzyme preparation is discussed in this review.