clinical trialSanofi Genzyme, the specialty care global business unit of Sanofi, has announced that the first adult patient has enrolled and been dosed in a pivotal Phase II/III clinical trial named ASCEND for the investigational therapy olipudase alfa. Olipudase alfa is an enzyme replacement therapy being studied for the treatment of non-neurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B (NPD B).

ASMD is one of a group of lysosomal storage disorders that affect cellular metabolism and are caused by genetic mutations. ASMD is a serious and life-threatening disorder caused by insufficient activity of the enzyme acid sphingomyelinase resulting in accumulation of sphingomyelin in multiple organs of the body. Common clinical manifestations include enlarged liver and spleen, liver dysfunction, infiltrative lung disease, bleeding complications, cardiovascular and bone disease, and growth delay. There are currently no approved treatment options for patients with ASMD.

ASCEND is a Phase II/III multinational, multicentre, double-blinded, placebo-controlled trial to evaluate the efficacy, safety, pharmacodynamics and pharmacokinetics of olipudase alfa administered intravenously once every 2 weeks for 52 weeks in adult patients with ASMD, specifically NPD B. The Phase II/III trial will assess the effect 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 a placebo. Upon completion of the 52 week primary analysis period, all patients will receive treatment in an extension period.

“ASMD is a rare and debilitating disease that can lead to serious medical conditions including failure of the lungs, liver or heart,” said Eugen Mengel, MD, Principal Investigator at the Villa Metabolica Mainz University Medical Center. “The beginning of this pivotal trial is a critical milestone in the assessment of olipudase alfa’s potential to impact the lives of patients living with ASMD.”

In June of last year, Sanofi Genzyme announced the beginning of a Phase I/II trial in paediatric patients with ASMD, specifically NPD B. For more information on both trials, please visit or The US Food and Drug Administration (FDA) has granted Breakthrough Therapy designation to olipudase alfa. Breakthrough Therapy designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions.

“We are excited to have clinical studies for olipudase alfa now under way for both paediatric and adult patients,” said Therapeutic Area Head, Rare Diseases Development Rand Sutherland, MD. “This is an important step forward in our journey to meet the need for a meaningful treatment option for patients with ASMD. We are thankful for the engagement and support of the patients, physicians and scientific community for helping us reach this milestone.”