Date: 2015-06-15
Type of information: Treatment of the first patient
phase: 1-2
Announcement: treatment of the first patient
Company: Genzyme (USA - MA), a Sanofi company (France)
Product: olipudase alfa
Action
mechanism: enzyme replacement therapy. Olipudase alfa is a recombinant human acid sphingomyelinase. Traditionally called Niemann-Pick Disease types A and B (NPD A and NPD B), acid sphingomyelinase deficiency (ASMD) is one of a group of lysosomal storage diseases that affect the metabolism and that are caused by genetic mutations. ASMD is caused by the deficiency of a specific enzyme, acid sphingomyelinase (ASM). This enzyme is found in special compartments within cells called lysosomes and is required to metabolize a lipid called sphingomyelin. If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Niemann-Pick A and Niemann-Pick B are both caused by the same enzymatic deficiency and there is growing evidence that the two forms represent opposite ends of a continuum. The FDA has granted Breakthrough Therapy designation to olipudase alfa.
Disease: acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B
Therapeutic area: Rare diseases - Genetic diseases
Country: France, Italy, UK, USA
Trial
details: ASCEND-Peds is a phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase alfa in pediatric patients aged (NCT02292654)
Latest
news: * On June 15, 2015, Genzyme, a Sanofi company, announced that the first pediatric patient has begun treatment in a Phase 1/2 clinical trial focused on evaluating the investigational therapy olipudase alfa. Olipudase alfa is an enzyme replacement therapy being studied for the treatment of nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B, as opposed to type A, which is characterized by neurological involvement. The Phase 1/2 trial is a multi-national, multi-center, open label, ascending dose trial to evaluate the safety, tolerability and pharmacokinetics of olipudase alfa administered intravenously once every 2 weeks for 52 weeks in pediatric patients with ASMD. Twelve pediatric patients will be enrolled into 3 age cohorts: an adolescent cohort (12 to
