Trial record 1 of 19 for:    Leber congenital amaurosis
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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. Identifier: NCT02714816
Recruitment Status : Recruiting
First Posted : March 22, 2016
Last Update Posted : August 21, 2017
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 .

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 : March 2021
Estimated Study Completion Date : March 2021

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, Senior)
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

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 identifier (NCT number): NCT02714816

Contact: Anna Morka, MSc 02037252350
Contact: Julie Bakobaki 02037252349

United States, Michigan
Kellogg Eye Center Not yet recruiting
Ann Arbor, Michigan, United States, MI 48105
Contact: Adrienne Chen    734-232-9167   
Contact: Anna Morka    02037252350   
Principal Investigator: John Heckenlively         
United Kingdom
Moorfields Eye Hospital Recruiting
London, United Kingdom
Contact: Neruban Kumaran, Dr   
Contact: Sophie Connor    02075662821   
Principal Investigator: Michel Michealides, Prof         
Sponsors and Collaborators
MeiraGTx UK II Ltd
Principal Investigator: Michel Michealides, Prof UCL/Moorfileds

Responsible Party: MeiraGTx UK II Ltd Identifier: NCT02714816     History of Changes
Other Study ID Numbers: MGT005
First Posted: March 22, 2016    Key Record Dates
Last Update Posted: August 21, 2017
Last Verified: August 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Leber Congenital Amaurosis
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Signs and Symptoms
Eye Diseases, Hereditary
Retinal Diseases