A Prospective, Observational Study of MPS IIIB
Research type
Research Study
Full title
A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
IRAS ID
174710
Contact name
Maureen Cleary
Contact email
Sponsor organisation
BioMarin Pharmaceutical Inc.
Duration of Study in the UK
2 years, 6 months, 31 days
Research summary
Mucopolysaccharidosis type IIIB (MPS IIIB, also known as Sanfilippo B syndrome) is a severe neurodegenerative disorder. The purpose of this study is to learn more about the health problems in patients with MPS IIIB and how to measure these problems over time. It will particularly look at how the disease develops in young children. This will help us design future studies to measure whether these health problems get better when we give experimental drugs for MPS IIIB. This is an observational study, so no experimental drug will be given in this study.
People with MPS IIIB do not have enough NAGLU, an enzyme needed to break down a molecule normally found in the body called heparan sulfate glycosaminoglycan (GAG). When there is not enough working NAGLU enzyme, heparan sulfate GAG builds up in the cells of the body, leading to the symptoms seen with MPS IIIB.
About 20 to 30 children aged 10 or under will be in the whole study and will participate for approximately 2 years. There will be up to 4 weeks of screening tests, and then Study visits will occur every 12 weeks for a maximum of 96 weeks. Each study visit will take either 1 or 2 days. A number tests and procedures will be done at the study visits, including: blood samples, urine samples, physical examinations, ECG (electrical test of the heart rhythm), EEG (electrical test of the brain wave pattern), questionnaires, MRI scan and collection of cerebrospinal fluid by lumbar puncture. Some of these assessments will be done under general anaesthetic or strong sedation.
The study is sponsored by BioMarin and is planned to be run at Great Ormond Street Hospital in the UK as well as other centres worldwide.REC name
London - Dulwich Research Ethics Committee
REC reference
15/LO/0671
Date of REC Opinion
15 Jun 2015
REC opinion
Further Information Favourable Opinion