Assessment of eye disease in mucopolysaccharidosis
Research type
Research Study
Full title
Use of new imaging technology to assess effect of enzyme replacment therapy on eye disease progession in mucopolysacchardiosis.
IRAS ID
178408
Contact name
Jane L Ashworth
Contact email
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
The mucopolysaccharidoses (MPS) are a group of hereditary disorders which arise from defects in enzymes which break down glycosaminoglycans (GAGs) which occur in a wide variety of tissues, resulting in multiple systemic complications. Sight loss occurs in MPS due to corneal clouding, retinal degeneration, glaucoma and damage to the optic nerve. Corneal opacification occurs in infancy in several MPS subtypes and in the untreated disease the opacification is thought to be progressive, contributing to significant visual impairment in many patients. Improvements in quality of life and lifespan as a result of early treatment (with enzyme replacement therapy and haematopoetic stem cell transplantation) have meant that management of ocular complications and preservation of vision has increased importance.
A repeatable, reliable technique for quantification of corneal clouding will allow objective demonstration of the effect of treatments such as ERT in stabilisation or improvement of corneal clouding, and to establish the natural history of corneal opacification in MPS.
We have previously developed the Iris camera (Irisguard Corp, McLean, VA 22102, USA) technology to give an objective measure of corneal clouding (Irisguard model IG-AD100®) (Aslam et al 2009). We demonstrated that use of the the iris camera for corneal opacification assessment in MPS is feasibile, practical and has shown evidence for validity and reliability (Aslam et al 2012) (research funded in part by Biomarin Europe Ltd). The densitometry program for the Pentacam® Scheimpflug camera has also been shown to be able to provide measurements of corneal clouding in MPS (Elflein et al 2013). Optos wide-angle digital imaging and high resolution OCT allows documentation of retinal disease. This research proposal will allow us to use to these techniques to quantify corneal clouding and retinal disease over time in MPS patients and to assess the effects of treatment with ERT and HSCT.REC name
West of Scotland REC 3
REC reference
15/WS/0143
Date of REC Opinion
9 Jul 2015
REC opinion
Favourable Opinion