Xenpozyme is a treatment for ASMD and the condition’s only current enzyme replacement therapy

The European Commission has approved Xenpozyme – also known as olipudase alfa – as the first and only enzyme replacement therapy for the treatment of non-Central Nervous System (CNS) manifestations of Acid Sphingomyelinase Deficiency (ASMD).

The therapy is for use among paediatric and adult patients with ASMD type A/B or ASMD type B. Meanwhile, the approval is based on positive data from the Ascend clinical trials, in which Xenpozyme showed substantial and clinically relevant improvement in lung function – as measured by diffusing capacity of the lung for carbon monoxide – and reduction of spleen and liver volumes.

Xenpozyme is an enzyme replacement therapy designed to replace deficient or defective acid sphingomyelinase, an enzyme that allows for the breakdown of the lipid sphingomyelin. In individuals with ASMD, the insufficient amount of the ASM enzyme means sphingomyelin is poorly metabolised, potentially leading to lifelong accumulation in and damage to multiple organs.

Given the urgent unmet medical needs of the ASMD community, the European Medicines Agency (EMA) granted Xenpozyme ‘PRIority MEdicines' (PRIME) designation. Xenpozyme has also received special breakthrough designations from several other regulatory agencies around the world.

John Reed, executive vice president, global head of research and development at Sanofi, reflected: “The ASMD community has waited many years for a treatment for this rare and debilitating genetic disease. The approval of Xenpozyme by the European Commission represents a transformational shift in what we can offer to patients, demonstrated by the clinically important improvements across major manifestations of ASMD and the sustained effects noted over longer term treatment.”

Maurizio Scarpa, from the University Hospital of Udine, concluded: “We welcome the European Union approval of Xenpozyme as the first and only disease-specific therapy for ASMD with a potential to oppose disease progression. This is a significant milestone for individuals living with ASMD, a disease associated with substantial morbidity and risk of premature death.”

ASMD is an extremely rare, progressive genetic disease with significant morbidity and mortality, especially among infants and children. Signs and symptoms of ASMD may include enlarged spleen or liver, difficulty breathing, lung infections and unusual bruising or bleeding. Current management of the disease includes palliative and supportive care to manage the symptoms.