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

Completed

• Conditions: Leber Congenital Amaurosis

• Registration Number: NCT02714816
• Lead Sponsor: MeiraGTx UK II Ltd

Brief Summary

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

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 Timeline

• Study First Submitted: 2016-03-08
• Study First Submitted QC: 2016-03-16
• Study First Posted: 2016-03-22
• Study Start: 2016-04
• Primary Completion: 2023-07-22
• Study Completion: 2023-07-22
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-10
• Last Update Posted: 2023-08-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 37

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

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

Trial Locations

Locations (2)

Kellogg Eye Center; 🇺🇸 Ann Arbor, Michigan, United States

Moorfields Eye Hospital; 🇬🇧 London, United Kingdom