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New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis

NCT ID: NCT02583152

Last Updated: 2017-11-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-11-30

Study Completion Date

2020-11-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Mucopolysaccharidoses

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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MPS patient cohort

Participants with Mucopolysaccharidosis. types I-IV, VI and VII will be recruited from the paediatric and adult ophthalmology. Participants over the age of three who are able to comply and be investigated.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Adult and paediatric participants with MPS and corneal opacification will be potentially eligible for this study, including those untreated, treated with previous haematopetic stem cell transplant, and treated with ERT.
* Participants who have a confirmed diagnosis of mucopolysaccharosisis type I (Hurler, Hurler/Scheie and Scheie), MPS type II (Hunter), type III (Sanfilippo) type IV (Morquio) and type VI (MaroteauxLamy), type VII (Sly) will be potentially eligible. In order to cooperate with the examinations, the participant needs to be able to hold relatively still while seated at an instrument with a head rest and hold fixation for several seconds for this reason participants over the age of 3 years will be eligible.

Exclusion Criteria

* Those who are aged under 3 years or who have significant neurological involvement which would influence understanding and/or cooperation.
Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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BioMarin Pharmaceutical

INDUSTRY

Sponsor Role collaborator

Manchester Royal Eye Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jane Ashworth, MBChB, PhD

Role: PRINCIPAL_INVESTIGATOR

Central Manchester Foundation Trust

Locations

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Manchester Royal Eye Hospital

Manchester, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Jane Ashworth, MBChB

Role: CONTACT

Email: [email protected]

Facility Contacts

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Jane Ashworth

Role: primary

Monika Cien

Role: backup

Other Identifiers

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R04002

Identifier Type: -

Identifier Source: org_study_id