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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

Tracking Information
First Submitted Date September 10, 2015
First Posted Date October 22, 2015
Last Update Posted Date November 28, 2017
Study Start Date November 2015
Estimated Primary Completion Date November 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 24, 2017)
Corneal densitometry scores in participants on treatment [ Time Frame: 60 months study period ]
Original Primary Outcome Measures
 (submitted: October 20, 2015)
Conreal densitometry scores in participants on treatment [ Time Frame: 36 months study period ]
Change History Complete list of historical versions of study NCT02583152 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: November 24, 2017)
Corneal clouding score over time in patients on treatment. [ Time Frame: 60 months study period ]
Original Secondary Outcome Measures
 (submitted: October 20, 2015)
Corneal clouding score over time in patients on treatment. [ Time Frame: 36 months study period ]
Current Other Pre-specified Outcome Measures
 (submitted: November 24, 2017)
  • Repeatability and accessibility for each imaging technique [ Time Frame: 60 months study period ]
  • Retinal morphology changes with Optos wide field digital imaging and high resolution OCT [ Time Frame: 60 months study period ]
Original Other Pre-specified Outcome Measures
 (submitted: October 20, 2015)
  • Repeatability and accessibility for each imaging technique [ Time Frame: 36 months study period ]
  • Retinal morphology changes with Optos wide field digital imaging and high resolution OCT [ Time Frame: 36 months study period ]
 
Descriptive Information
Brief Title New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
Official Title Use of New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
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.
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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition Mucopolysaccharidoses
Intervention Not Provided
Study Groups/Cohorts 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.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 24, 2017)
50
Original Estimated Enrollment
 (submitted: October 20, 2015)
30
Estimated Study Completion Date November 2020
Estimated Primary Completion Date November 2020   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 3 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Jane Ashworth, MBChB Jane.Ashworth@cmft.nhs.uk
Listed Location Countries United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT02583152
Other Study ID Numbers R04002
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Manchester Royal Eye Hospital
Study Sponsor Manchester Royal Eye Hospital
Collaborators BioMarin Pharmaceutical
Investigators
Principal Investigator: Jane Ashworth, MBChB, PhD Central Manchester Foundation Trust
PRS Account Manchester Royal Eye Hospital
Verification Date November 2017