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

Sponsor

MeiraGTx UK II Ltd (Industry)

Overall Status

Recruiting

CT.gov ID

NCT02714816

Collaborator

(none)

Enrollment

Locations

Duration (Months)

Patients Per Site

0.2

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.

Condition or Disease	Intervention/Treatment	Phase
Leber Congenital Amaurosis

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 Design

Study Type:

Observational

Anticipated Enrollment :

40 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Study Start Date :

Apr 1, 2016

Anticipated Primary Completion Date :

Feb 1, 2023

Anticipated Study Completion Date :

Feb 1, 2023

Outcome Measures

Primary Outcome Measures

Analysis of retinal structure and function [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

Secondary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

3 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Kellogg Eye Center	Ann Arbor	Michigan	United States	MI 48105
2	Moorfields Eye Hospital	London		United Kingdom

Sponsors and Collaborators

MeiraGTx UK II Ltd

Investigators

Principal Investigator: Michel Michealides, Prof, UCL/Moorfileds

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

MeiraGTx UK II Ltd

ClinicalTrials.gov Identifier:

NCT02714816

Other Study ID Numbers:

MGT005

First Posted:

Mar 22, 2016

Last Update Posted:

Apr 8, 2022

Last Verified:

Apr 1, 2022

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Additional relevant MeSH terms:

Blindness

Leber Congenital Amaurosis

Study Results

No Results Posted as of Apr 8, 2022