Sanofi group Gemzyme has kicked off a Phase I/II assessing its investigational enzyme replacement therapy olipudase alfa in children with rare genetic lysosomal storage disease.

The first paediatric patient has begun treatment for non-neurological manifestations of acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick disease type B), a serious and life-threatening disorder caused by insufficient activity of the enzyme ASM, which leads to sphingomyelin toxicity.

The multi-national, multicenter, open-label, ascending dose trial will evaluate the safety, tolerability and pharmacokinetics of olipudase alfa administered intravenously once every two weeks for 52 weeks in 12 paediatric patients with ASMD. A Phase II/III trial involving adult patients with ASMD is scheduled to begin in the second half of 2015.

There are currently no approved treatment options for Niemann-Pick disease type B and so there remains a high unmet need for patients. As such, US regulators recently awarded olipudase alfa with a breakthrough designation, to help expedite its development.