elosulfase

Elosulfase refers to elosulfase alfa, a recombinant human enzyme used as enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis type IVA, MPS IVA). The drug provides the deficient lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS), helping to break down certain glycosaminoglycans.

In Morquio A, GALNS deficiency leads to accumulation of keratan sulfate and chondroitin-6-sulfate in tissues such as bone, cartilage, and connective tissues. This buildup contributes to skeletal abnormalities, joint stiffness, short stature, and reduced endurance. Elosulfase alfa aims to reduce substrate accumulation, slow disease progression, and improve function and quality of life.

Elosulfase alfa is administered by intravenous infusion, typically on a weekly schedule. The usual dosing regimen is 2 mg per kilogram of body weight per week, delivered under medical supervision with monitoring for infusion-related reactions. Premedication and slow infusion rates may be used to minimize adverse reactions.

Clinical trial data have shown modest improvements in endurance measures (for example, the 6-minute walk test) and reductions in urinary keratan sulfate levels, along with some gains in physical function and quality of life. It is not a cure, and the therapeutic benefits are generally gradual and variable among individuals. Ongoing treatment often requires supportive care addressing skeletal, respiratory, and mobility issues.

Common safety concerns include infusion-associated reactions, fever, nausea, vomiting, and hypersensitivity. Serious allergic or anaphylactic reactions are rare but require immediate medical attention. As with other enzyme replacement therapies, treatment plans are individualized based on patient response and tolerance.

Elosulfase alfa was approved for Morquio A in several jurisdictions in the early 2010s and is marketed under brand names such as Vimizim. It remains the primary approved enzyme replacement option for MPS IVA.