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

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ClinicalTrials.gov Identifier: NCT02583152
Recruitment Status : Recruiting
First Posted : October 22, 2015
Last Update Posted : November 28, 2017
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Manchester Royal Eye Hospital

Brief Summary:
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.

Condition or disease
Mucopolysaccharidoses

Detailed Description:

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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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Use of New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
Study Start Date : November 2015
Estimated Primary Completion Date : November 2020
Estimated Study Completion Date : November 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eye Diseases

Group/Cohort
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.



Primary Outcome Measures :
  1. Corneal densitometry scores in participants on treatment [ Time Frame: 60 months study period ]

Secondary Outcome Measures :
  1. Corneal clouding score over time in patients on treatment. [ Time Frame: 60 months study period ]

Other Outcome Measures:
  1. Repeatability and accessibility for each imaging technique [ Time Frame: 60 months study period ]
  2. Retinal morphology changes with Optos wide field digital imaging and high resolution OCT [ Time Frame: 60 months study period ]


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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
  • 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 eligible if able to hold relatively still while seated at an instrument with a head rest.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02583152


Contacts
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Contact: Jane Ashworth, MBChB Jane.Ashworth@cmft.nhs.uk

Locations
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United Kingdom
Manchester Royal Eye Hospital Recruiting
Manchester, United Kingdom, M13 9WL
Contact: Jane Ashworth       jane.ashworth@mft.nhs.uk   
Contact: Monika Cien    01617011765    monika.cien@mft.nhs.uk   
Sponsors and Collaborators
Manchester Royal Eye Hospital
BioMarin Pharmaceutical
Investigators
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Principal Investigator: Jane Ashworth, MBChB, PhD Central Manchester Foundation Trust

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Responsible Party: Manchester Royal Eye Hospital
ClinicalTrials.gov Identifier: NCT02583152     History of Changes
Other Study ID Numbers: R04002
First Posted: October 22, 2015    Key Record Dates
Last Update Posted: November 28, 2017
Last Verified: November 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Mucopolysaccharidoses
Eye Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases