Choroideremia Gene Therapy Clinical Trial

NCT02553135 | Completed Phase 2 Results DMC

• 1 other identifier: 20150371
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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.

Conditions

Choroideremia

Keywords

choroideremia, gene therapy

Outcome Measures

Primary Outcomes (1)

• Change in Best Corrected Visual Acuity From Baseline

  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.

  Baseline, 24 Months

Secondary Outcomes (3)

• Change in Retinal Macular Autofluorescence From Baseline

  12 and 24 months

• Changes in Microperimetry From Baseline

  Baseline to 24 months

• Number of Participants Who Experience an Adverse Event

  24 months

Study Arms (1)

Injection of AAV2-REP1

EXPERIMENTAL

Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.

Biological: Injection of AAV2-REP1 (10e11 vg)

Interventions

Injection of AAV2-REP1 (10e11 vg) BIOLOGICAL

Single Group: single arm study

Injection of AAV2-REP1

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Byron Lam: lead

Study Sites (1)

Bascom Palmer Eye Institute, University of Miami

Miami, Florida, 33136, United States

Location

Related Publications (1)

• Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol. 2018 Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.

  PMID: 30194931 DERIVED

MeSH Terms

Conditions

Choroideremia

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Choroid Diseases; Uveal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked

Results Point of Contact

• Title: Byron Lam , MD
• Organization: University of Miami

blam@med.miami.edu

305-326-6021

Study Officials

• BYRON LAM, MD

  UNIVERSITY OF MIAMI, BASCOM PALMER EYE INSTITUTE

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor of Ophthalmology

Study Record Dates

• First Submitted: June 17, 2015
• First Posted: September 17, 2015
• Study Start: September 1, 2015
• Primary Completion: February 1, 2018
• Study Completion: February 1, 2018
• Last Updated: July 29, 2019
• Results First Posted: July 29, 2019

Record last verified: 2019-07

Locations

US (1)