Observational Study for Neuronopathic Forms of MPSII (Hunter Syndrome)
Research type
Research Study
Full title
A Prospective, Observational Study of Pediatric Patients with Neuronopathic Forms of MPS II (Hunter Syndrome)
IRAS ID
300600
Contact name
Anupam Chakrapani
Contact email
Sponsor organisation
REGENXBIO Inc.
Duration of Study in the UK
4 years, 0 months, 12 days
Research summary
This study will be an observational study without drug treatment used to define the natural course of Mucopolysaccharidosis Type II (MPS II) which is considered a rare disease. Understanding the natural history of MPS II is important because it may help determine the best age for treatment and help provide better care to individuals living with MPS II.
MPS II, an inherited, genetic disorder caused by a change in the IDS gene (a set of instructions) that makes an enzyme called iduronate-2-sulfatase (I2S), is being studied. I2S is needed to break down long chains of sugar molecules (called mucopolysaccharides or glycosaminoglycans), but it is missing or is not properly working in individuals with MPS II. As a result, these sugar molecules are not broken down and instead build up in cells. This build-up causes cell damage over time leading to changes in the way individuals with MPS II grow, act, think and look.
The sponsor of this study, REGENXBIO Inc., would like to study children with MPS II for a period of time to have information about how the disease progresses in order to understand how new treatments could help children with MPS II.
The purpose of this study is to better understand the changes over time in children with MPS II, depending on the type of gene change they have and the type of treatment they are or have received for MPS II. The study staff will perform a number of tests and collect blood and urine samples. They will also watch for physical and behavioural changes of each participant.
There will be up to 40 participants with MPS II between 1 month of age and up to 8 years of age who will be enrolled in up to 20 clinical centres.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
21/NE/0168
Date of REC Opinion
2 Nov 2021
REC opinion
Further Information Favourable Opinion