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

Leber Congenital Amaurosis Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02714816
• Other study ID #: MGT005
• Status: Completed
• Start date: April 2016
• Est. completion date: July 22, 2023

Study information

• Verified date: August 2023
• Source: MeiraGTx UK II Ltd
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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 .

Recruitment information / eligibility

• Status: Completed
• Enrollment: 37
• Est. completion date: July 22, 2023
• Est. primary completion date: July 22, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Blindness
• Leber Congenital Amaurosis

Locations

Country	Name	City	State
United Kingdom	Moorfields Eye Hospital	London
United States	Kellogg Eye Center	Ann Arbor	Michigan

Sponsors (1)

Lead Sponsor	Collaborator
MeiraGTx UK II Ltd

Countries where clinical trial is conducted

United States,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Analysis of retinal structure and function	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	Quality of Life Questionnaires	Assessment of Visual impairment using appropriate, validated questionnaires	6 years
Secondary	Retinal Sensitivity	To be assessed in Microperimetry	6 years
Secondary	Retinal Structural analysis	Retinal Structure analysis with Adaptive Optics	6 years
Secondary	Fundal Autofluorescence	Presence or Absence	6 years
Secondary	Assessment of Visual Fields	Assessment of Visual Fields with analysis of hill of vision	6 years