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Completed

NCT Number: NCT02714816

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

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

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Key information

Conditions

Leber Congenital Amaurosis Eye Diseases Eye Diseases, Hereditary Retinal Diseases

Age range

3 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Moorfields Eye Hospital, London, United Kingdom

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About this study

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 .

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  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 outcomes

  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

Sponsors and collaborators

Lead sponsor

MeiraGTx UK II Ltd

Industry

Registry information

Important dates

Study start
2016
Primary completion
2023
Study completion
2023
First posted
Mar 22, 2016
Registry last updated
Aug 14, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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