ASCEND- Peds
Research type
Research Study
Full title
A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency
IRAS ID
166982
Contact name
Simon Jones
Contact email
Sponsor organisation
Genzyme Corporation
Eudract number
2014-003198-40
Duration of Study in the UK
2 years, 3 months, 20 days
Research summary
Niemann Pick B disease (NPB) is a serious and life threatening disorder for which there is no safe and effective treatment to improve the symptoms or reverse the disease course. In this disorder, a genetic defect results in reduced enzyme acid sphingomyelinase (ASM) activity and thus the 50fold increase in sphingomyelin levels which then accumulates in organs such as the liver, spleen, lung and bone marrow leading to dysfunction. This is a Phase 1/2 study to evaluate the safety 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
North West - Greater Manchester Central Research Ethics Committee
REC reference
15/NW/0067
Date of REC Opinion
19 Feb 2015
REC opinion
Further Information Favourable Opinion