Biomarkers in Hunter Syndrome
Research type
Research Study
Full title
A Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome
IRAS ID
263187
Contact name
Simon Jones
Contact email
Sponsor organisation
Denali Therapeutics Inc.
Duration of Study in the UK
2 years, 0 months, 2 days
Research summary
This study is a 2-part prospective, multicentre, observational study in patients with mucopolysaccharidosis type II (MPS II), also called Hunter Syndrome. Hunter Syndrome is a rare, inherited genetic
disorder that is caused by a missing or malfunctioning enzyme. People diagnosed with Hunter Syndrome are not able to make enough of the enzyme called iduronate 2-suphatase. This enzyme deficiency results in the build-up of certain complex molecules which are harmful to the body. The study will be divided into two parts. Part 1 will enrol patients aged 2 through to 10 years. Part 2 will enrol patients aged 2 through to 30 years.There are no experimental therapies in this study. The primary focus is to evaluate biomarkers in patients with MPS II that may serve as markers of disease severity and/or treatment response, and thereby advance clinical trials of new MPS II therapeutics. Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted during Part 1 of the study, with clinical assessments
optional in Part 2 for patients aged 18 years or younger.Documented diagnosis of MPS II is required for study entry in both Parts 1 and 2 of the study. Patients participating in this observational study may be eligible to enrol in an interventional study and
receive an investigational central nervous system–penetrant treatment for MPS II if they meet the eligibility criteria.REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
19/NE/0169
Date of REC Opinion
18 Jul 2019
REC opinion
Further Information Favourable Opinion