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

NCT02583152 | Unknown

• 1 other identifier: R04002
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Mucopolysaccharidoses

Outcome Measures

Primary Outcomes (1)

• Corneal densitometry scores in participants on treatment

  60 months study period

Secondary Outcomes (1)

• Corneal clouding score over time in patients on treatment.

  60 months study period

Other Outcomes (2)

• Repeatability and accessibility for each imaging technique

  60 months study period

• Retinal morphology changes with Optos wide field digital imaging and high resolution OCT

  60 months study period

Study Arms (1)

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.

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Manchester Royal Eye Hospital: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

Manchester Royal Eye Hospital

Manchester, M13 9WL, United Kingdom

RECRUITING

MeSH Terms

Conditions

Mucopolysaccharidoses

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jane Ashworth, MBChB, PhD

  Central Manchester Foundation Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jane Ashworth, MBChB

CONTACT

Jane.Ashworth@cmft.nhs.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 10, 2015
• First Posted: October 22, 2015
• Study Start: November 1, 2015
• Primary Completion: November 1, 2020
• Study Completion: November 1, 2020
• Last Updated: November 28, 2017

Record last verified: 2017-11

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)