Elosulfase alfa for the treatment of mucopolysacchoridosis IVA.

Mucopolysacchariodosis IVA is a lysosomal storage disorder characterized by deficiency of the enzyme N-acetylgalactosamine-6-sulfatase leading to accumulation of glycosaminoglycans. Mucopolysacchariodosis IVA affects many organs, especially the skeletal system. The disease is progressive, leads to serious cardiopulmonary problems and is severely debilitating. Enzyme replacement therapy with elosulfase alfa is the only approved treatment for this rare genetic condition. The results from a Phase III clinical trial demonstrated that elosulfase alfa at dose 2.0 mg/kg weekly given intravenously improved the walking distance in 6 min. The results of the 3-min stair climb test and respiratory function test did not show statistically significant improvement over the placebo. However, the composite end point analysis combining changes from baseline in walking distance in 6 min, 3-min stair climb test and respiratory function showed that at dose 2.0 mg/kg weekly, subjects performed better than the placebo, indicating that the effects of treatment are clinically meaningful. Serious side effects are uncommon and infusion-associated reactions are manageable.