Enzyme Replacement Therapy in Niemann-Pick Disease
Research type
Research Study
Full title
Laboratory analyses of blood samples from patients with Niemann-Pick Disease (Type B) dosed with Olipudase Alfa
IRAS ID
227222
Contact name
Handrean Soran
Contact email
Sponsor organisation
Manchester University NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 31 days
Research summary
Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick disease (NPD), is a rare genetic disorder. The gene mutation results in deficiency of the enzyme acid sphingomyelinase (ASM). This enzyme is necessary for breaking down sphingomyelin, a fatty substance present in cell membranes. Lack of the enzyme causes the fatty substance to build up and eventually cells and organs are damaged. Currently enzyme replacement therapy (ERT) with recombinant acid sphingomyelinase (olipudase alfa) is being developed as a treatment option for NPD patients. In a recent study looking at the safety and efficacy of ERT, it was noted that there was a significant improvement in the lipid profiles of patients receiving it. This may be important with regards to cardiovascular disease. In this study we wish to better understand the changes in lipid profiles of NPD patients receiving ERT. In addition we will look at other cardiovascular risk factors by performing specific blood tests on blood samples from these patients. Anonymised blood samples from 5 NPD patients collected in ERT study have been made available to us by Genzyme Corporation. It is important to compare results from NPD patients with healthy control participants. 15 age and sex matched control participants will be recruited from Manchester University NHS Foundation Trust. The control participants will have a single fasting blood sample of 60ml taken. The same laboratory tests will be performed on blood samples from both NPD patients and control participants.
The study is expected to be completed in 2 year from commencement.REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
18/YH/0078
Date of REC Opinion
28 Feb 2018
REC opinion
Favourable Opinion