Sanofi Genzyme has begun enrolment for its pivotal Phase II/III ASCEND clinical trial of olipudase alfa to treat non-neurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B (NPD B).

ASMD is a type of lysosomal storage disorder caused by genetic mutations and affects cellular metabolism.

The terminal disorder is caused by insufficient activity of the enzyme acid sphingomyelinase, which leads to accumulation of sphingomyelin in multiple organs of the body.

University College of London Hospitals' national hospital for neurology and neurosurgery principal investigator Dr Robin Lachmann said: "ASMD is a rare disorder affecting the breakdown of certain complex fats in the body.

"There is a clear need for a new treatment option, which could positively affect the lives of patients with ASMD."

"These gradually accumulate over time in organs such as the liver, spleen and lungs, leading to debilitating and life threatening complications.

“There is a clear need for a new treatment option, which could positively affect the lives of patients with ASMD. We are excited to be taking part in this pivotal clinical trial and pleased to have been able to dose the first patient in the UK." 

ASMD causes symptoms such enlarged liver and spleen, liver dysfunction, infiltrative lung disease, bleeding complications, cardiovascular and bone disease, and growth delay.

The Phase II/III multi-national, multi-centre, double-blinded, placebo-controlled Ascend trial is being held in the UK. It will assess efficacy, safety and determine pharmacodynamics and pharmacokinetics profile of olipudase alfa on spleen size, lung function and other important clinical parameters.

Thirty-six patients are expected to be enrolled in the study and receive olipudase alfa or placebo.

Following completion of the 52-week primary analysis period, all patients will receive treatment in an extension period.

Olipudase alfa has been developed to address the fundamental defect underlying NPD B.

The addition of olipudase alfa to defective or deficient native enzyme results in the breakdown of sphingomyelin, whose accumulation is responsible for the clinical manifestation of ASMD.