Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65

August 10, 2023 updated by: MeiraGTx UK II Ltd
MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.

Study Overview

Status

Completed

Conditions

Detailed Description

Leber Congenital Amaurosis (LCA) is a diagnosis for a group of severe, autosomal recessively inherited rod - cone dystrophies that typically result in complete visual loss in the third or fourth decade of life. One form, LCA2, is caused by a mutation in the gene encoding RPE56, an RPE-specific 65-kDa isomerase. Non-functional RPE65 results in photoreceptor cells that are unable to respond to light resulting in these patients being visually impaired.

In preparation for human clinical trials, a detailed prospective phenotypic study will be undertaken to investigate the natural history of RPE65-LCA. Such a study will help identify suitable patients for therapeutic intervention. Furthermore through greater phenotyping an optimal window for intervention and specific parameters to help quantify effect and identify clinical end points may have been ascertained .

Study Type

Observational

Enrollment (Actual)

37

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United Kingdom
      • London, United Kingdom
        • Moorfields Eye Hospital
  • United States
    • Michigan
      • Ann Arbor, Michigan, United States, MI 48105
        • Kellogg Eye Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with RPE65-LCA condition

Description

Inclusion Criteria:

  • Patients with RPE65 associated retinal dystrophy
  • Minimum subject age of 3 years
  • Able to give consent/parent or guardian able to give consent

Exclusion Criteria:

  • Patients unable or unwilling to undertake consent or clinical testing
  • Have received a gene therapy treatment in both eyes

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Analysis of retinal structure and function
Time Frame: 6 years
Retinal structure will be analysed using Adaptive optics and SD-OCT and Fundal autofluorescence. This will be correlated with assessment of visual acuity, psychophysical visual assessment, visual mobility, retinal sensitivity and visual fields
6 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Quality of Life Questionnaires
Time Frame: 6 years
Assessment of Visual impairment using appropriate, validated questionnaires
6 years
Retinal Sensitivity
Time Frame: 6 years
To be assessed in Microperimetry
6 years
Retinal Structural analysis
Time Frame: 6 years
Retinal Structure analysis with Adaptive Optics
6 years
Fundal Autofluorescence
Time Frame: 6 years
Presence or Absence
6 years
Assessment of Visual Fields
Time Frame: 6 years
Assessment of Visual Fields with analysis of hill of vision
6 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

MeiraGTx UK II Ltd

Investigators

  • Principal Investigator: Michel Michealides, Prof, UCL/Moorfileds

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2016

Primary Completion (Actual)

July 22, 2023

Study Completion (Actual)

July 22, 2023

Study Registration Dates

First Submitted

March 8, 2016

First Submitted That Met QC Criteria

March 16, 2016

First Posted (Estimated)

March 22, 2016

Study Record Updates

Last Update Posted (Actual)

August 14, 2023

Last Update Submitted That Met QC Criteria

August 10, 2023

Last Verified

August 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MGT005

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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