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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02714816
Recruitment Status : Recruiting
First Posted : March 22, 2016
Last Update Posted : July 16, 2019
Sponsor:
Information provided by (Responsible Party):
MeiraGTx UK II Ltd

Tracking Information
First Submitted Date March 8, 2016
First Posted Date March 22, 2016
Last Update Posted Date July 16, 2019
Study Start Date April 2016
Estimated Primary Completion Date March 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 16, 2017)
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
Original Primary Outcome Measures
 (submitted: March 16, 2016)
Analysis of retinal structure and function [ Time Frame: 6 years ]
Retinal structure will be analysed using state of the art 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
Change History
Current Secondary Outcome Measures
 (submitted: August 16, 2017)
  • Quality of Life Questionnaires [ Time Frame: 6 years ]
    Assessment of Visual impairment using appropriate, validated questionnaires
  • Retinal Sensitivity [ Time Frame: 6 years ]
    To be assessed in Microperimetry
  • Retinal Structural analysis [ Time Frame: 6 years ]
    Retinal Structure analysis with Adaptive Optics
  • Fundal Autofluorescence [ Time Frame: 6 years ]
    Presence or Absence
  • Assessment of Visual Fields [ Time Frame: 6 years ]
    Assessment of Visual Fields with analysis of hill of vision
Original Secondary Outcome Measures
 (submitted: March 16, 2016)
  • Quality of Life Questionnaires [ Time Frame: 6 years ]
    Assessment of Visual impairment using appropriate, validated questionnaires
  • Retinal Sensitivity [ Time Frame: 6 years ]
    To be assessed in Microperimetry
  • Retinal Structural analysis with Adaptive Optics [ Time Frame: 6 years ]
    Retinal Structure analysis
  • Fundal Autofluorescence [ Time Frame: 6 years ]
    Presence or Absence
  • Assessment of Visual Fields [ Time Frame: 6 years ]
    Assessment of Visual Fields with analysis of hill of vision
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
Official Title Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with RPE65-LCA condition
Condition Leber Congenital Amaurosis
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 16, 2016)
40
Original Estimated Enrollment Same as current
Estimated Study Completion Date March 2021
Estimated Primary Completion Date March 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages 3 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: MeiraGTx UK II Ltd, MSc +44 (0)20 3866 4320 ocularinfo@meiragtx.com
Listed Location Countries United Kingdom,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02714816
Other Study ID Numbers MGT005
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party MeiraGTx UK II Ltd
Study Sponsor MeiraGTx UK II Ltd
Collaborators Not Provided
Investigators
Principal Investigator: Michel Michealides, Prof UCL/Moorfileds
PRS Account MeiraGTx UK II Ltd
Verification Date July 2019