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

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ClinicalTrials.gov Identifier: NCT02714816
Recruitment Status : Recruiting
First Posted : March 22, 2016
Last Update Posted : April 8, 2022
Information provided by (Responsible Party):
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.

Condition or disease
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 .

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Study Type : Observational
Estimated 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 : April 2016
Estimated Primary Completion Date : February 2023
Estimated Study Completion Date : February 2023

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. 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

Secondary Outcome Measures :
  1. Quality of Life Questionnaires [ Time Frame: 6 years ]
    Assessment of Visual impairment using appropriate, validated questionnaires

  2. Retinal Sensitivity [ Time Frame: 6 years ]
    To be assessed in Microperimetry

  3. Retinal Structural analysis [ Time Frame: 6 years ]
    Retinal Structure analysis with Adaptive Optics

  4. Fundal Autofluorescence [ Time Frame: 6 years ]
    Presence or Absence

  5. Assessment of Visual Fields [ Time Frame: 6 years ]
    Assessment of Visual Fields with analysis of hill of vision

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with RPE65-LCA condition

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02714816

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Contact: MeiraGTx UK II Ltd, MSc +44 (0)20 3866 4320 ocularinfo@meiragtx.com

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United States, Michigan
Kellogg Eye Center Recruiting
Ann Arbor, Michigan, United States, MI 48105
Contact: Adrienne Chen    734-232-9167    KelloggResearch@med.umich.edu   
Principal Investigator: Dr Jayasundera         
United Kingdom
Moorfields Eye Hospital Recruiting
London, United Kingdom
Contact: Agartha Kyei-Mensah       agartha.kyei-mensah@nhs.net   
Principal Investigator: Michel Michealides, Prof         
Sponsors and Collaborators
MeiraGTx UK II Ltd
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Principal Investigator: Michel Michealides, Prof UCL/Moorfileds
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: MeiraGTx UK II Ltd
ClinicalTrials.gov Identifier: NCT02714816    
Other Study ID Numbers: MGT005
First Posted: March 22, 2016    Key Record Dates
Last Update Posted: April 8, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Leber Congenital Amaurosis
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Diseases