DFI12712 ASCEND Acid Sphingomyelinase Comparison of Efficacy aNd Dose
Research type
Research Study
Full title
A Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency
IRAS ID
136970
Contact name
Robin Lachmann
Contact email
Sponsor organisation
Genzyme Corporation
Eudract number
2010-023953-12
Research summary
Niemann Pick B disease (NPB) is a serious and life-threatening disorder for which there is no safe effective treatment to improve symptoms or reverse the disease course. In this disorder, a genetic defect results in reduced enzyme acid sphinogomyelinase (ASM) activity and thus the 50-fold increase in sphingomyelin levels which accumulates in organs such as the liver, spleen, lung and bone marrow leading to dysfunction. This study is a Phase 2 trial to evaluate the possible risks and efficacy of repeated doses of an experimental study drug (recombinant human acid sphingomyelinase rhASM), in patients with Niemann Pick disease due to Acid Sphingomyelinase Deficiency (ASMD). Patients who have ASMD do not have enough activity of the enzyme acid sphingomyelinase (ASM), which normally helps the body break down sphingomyelin (an important building block fat for the cell). As time goes by, cells become overloaded with sphingomyelin and are injured, thereby affecting major organs such as the spleen and liver and leading to easy bruising, difficulty breathing, slow growth in childhood, delayed puberty, fatigue, pain and possibly other symptoms as well. Although the study doctor will discuss other available treatment options with patients prior to consenting to entry into the study, as already mentioned above, there is no specific treatment, to date, for ASMD. This study will therefore seek to determine the safe and effective dose of rhASM (a form of enzyme replacement therapy) as given intravenously to patients. The Patient Information Sheet will acknowledge that whilst it is possible that rhASM may help to improve some aspects of the disease (including decreases in liver and spleen size, increases in haemoglobin and platelet counts, reduction in bleeding and bruising, and improvements in lung disease, breathing and exercise capacity), rhASM is still experimental and thus no benefit can be guaranteed at this stage.
REC name
London - London Bridge Research Ethics Committee
REC reference
13/LO/1523
Date of REC Opinion
16 Dec 2013
REC opinion
Further Information Favourable Opinion