Mucopolysaccharidoses Clinical Trial
Official title:
Use of New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
Mucopolysaccharidoses (MPS) are currently treated with Enzyme replacement therapy and Bone Marrow Transplantation (BMT). No current evidence on the effectiveness on these therapies on the eye in this systemic disease is avalible. Using new imaging techniques; previously subjective data can be quantified and compared to determine if there is an improvment in the vision of patients with MPS.
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.
The investigators have previously developed the Iris camera (Irisguard Corp, McLean, VA
22102, USA) technology to give an objective measure of corneal clouding (Irisguard model
IGAD100 ®) (Aslam et al 2009). The investigators demonstrated that use of 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 .This research proposal will allow us to
use to these techniques to quantify corneal clouding over time in MPS patients and to assess
the effects of treatment with ERT and HSCT on corneal opacification.
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