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Choroideremia Gene Therapy Clinical Trial

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. Read our disclaimer for details. Identifier: NCT02553135
Recruitment Status : Completed
First Posted : September 17, 2015
Results First Posted : July 29, 2019
Last Update Posted : July 29, 2019
Information provided by (Responsible Party):
Byron Lam, University of Miami

Brief Summary:
Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up.

Condition or disease Intervention/treatment Phase
Choroideremia Biological: Injection of AAV2-REP1 (10e11 vg) Phase 2

Detailed Description:
This is a Phase II, open label study involving patients with a clinical phenotype of choroideremia and a confirmed CHM genotype. Following consent, patients will be required to attend an initial screening visit (Visit 1). Within 2 weeks of the screening visit patients will undergo a surgical procedure (Visit 2) under general anesthesia which will include a standard vitrectomy, retinal detachment and administration of a subretinal injection of AAV2-REP1 (1x1011 genome particles). Patients will be required to attend a further 9 study visits (Visits 3-11) over a 24 month period for functional, and anatomical assessments as well as monitoring of adverse events. The primary endpoint is the change from baseline in visual acuity in the study eye, compared to control eye. Secondary study endpoints are, change from baseline in autofluorescence evaluation, microperimetry readings and other anatomic and functional outcomes (all in the study eye compared to control eye). Secondary endpoints also include safety assessments to be conducted throughout the study. The fellow eyes of these patients will be utilized as controls in this study and will receive no study treatment.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 6 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)
Actual Study Start Date : September 2015
Actual Primary Completion Date : February 2018
Actual Study Completion Date : February 2018

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Experimental: Injection of AAV2-REP1
Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.
Biological: Injection of AAV2-REP1 (10e11 vg)
Single Group: single arm study

Primary Outcome Measures :
  1. Change in Best Corrected Visual Acuity From Baseline [ Time Frame: Baseline, 24 Months ]
    Patients will have an assessment of visual acuity using the Early Treatment of Diabetic Retinopathy Study (ETDRS) vision charts in both eyes. Low Luminance BCVA was measured by placing a 2.0 log unit neutral density filter over the best correction for that eye and having the participant read the normally illuminated ETDRS chart and was reported as the number of letters read correctly (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). The study eye was defined as the eye that met inclusion/exclusion criteria with the worst standard BCVA. If the BCVA in both eyes was similar the Patient determines the worse eye be selected as the study eye. A positive change from baseline indicates an improvement and a negative change from baseline indicates a worsening.

Secondary Outcome Measures :
  1. Change in Retinal Macular Autofluorescence From Baseline [ Time Frame: 12 and 24 months ]
    Measured in mm^2 by Fundus Autofluorescence and shows changes in the integrity and metabolism of retinal cells. A negative change from baseline indicates a decrease in size of the retained retina (worsening; disease progression).

  2. Changes in Microperimetry From Baseline [ Time Frame: Baseline to 24 months ]
    Microperimetry assessments. A negative change from baseline indicates disease worsening.

  3. Number of Participants Who Experience an Adverse Event [ Time Frame: 24 months ]
    Adverse events during treatment and follow-up period

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 18 Years and older
  • Male
  • Able to give informed consent
  • Genetically confirmed diagnosis of choroideremia
  • Active disease visible clinically within the macula region
  • Best-corrected visual acuity equal to or worse than 20/32 but better than or equal to 20/200 in the study eye.

Exclusion Criteria:

  • Female
  • Under the age of 18
  • History of amblyopia in the study eye
  • Men unwilling to use barrier contraception methods
  • Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control
  • Any other significant ocular and non-ocular disease/disorder or retinal surgery
  • Contraindication to use of medications or contrast agents
  • Participated in research study involving an investigational product in the past 12 weeks
  • Having had gene or cellular therapy at any time prior to this study.

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): NCT02553135

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United States, Florida
Bascom Palmer Eye Institute, University of Miami
Miami, Florida, United States, 33136
Sponsors and Collaborators
Byron Lam
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  Study Documents (Full-Text)

Documents provided by Byron Lam, University of Miami:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Byron Lam, Professor of Ophthalmology, University of Miami Identifier: NCT02553135    
Other Study ID Numbers: 20150371
First Posted: September 17, 2015    Key Record Dates
Results First Posted: July 29, 2019
Last Update Posted: July 29, 2019
Last Verified: July 2019
Keywords provided by Byron Lam, University of Miami:
choroideremia, gene therapy
Additional relevant MeSH terms:
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Eye Diseases, Hereditary
Eye Diseases
Choroid Diseases
Uveal Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked