Trial Outcomes & Findings for Choroideremia Gene Therapy Clinical Trial (NCT NCT02553135)

Last Updated: 2019-07-29

Results Overview

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.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

6 participants

Primary outcome timeframe

Baseline, 24 Months

Results posted on

2019-07-29

Participant Flow

Participant milestones

Participant milestones
Measure	Injection of AAV2-REP1 Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Overall Study STARTED	6
Overall Study COMPLETED	6
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Choroideremia Gene Therapy Clinical Trial

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Injection of AAV2-REP1 n=6 Participants Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Age, Categorical <=18 years	0 Participants n=93 Participants
Age, Categorical Between 18 and 65 years	5 Participants n=93 Participants
Age, Categorical >=65 years	1 Participants n=93 Participants
Sex: Female, Male Female	0 Participants n=93 Participants
Sex: Female, Male Male	6 Participants n=93 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	1 Participants n=93 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	5 Participants n=93 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=93 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=93 Participants
Race (NIH/OMB) Asian	0 Participants n=93 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=93 Participants
Race (NIH/OMB) Black or African American	0 Participants n=93 Participants
Race (NIH/OMB) White	6 Participants n=93 Participants
Race (NIH/OMB) More than one race	0 Participants n=93 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=93 Participants

PRIMARY outcome

Timeframe: Baseline, 24 Months

Outcome measures

Outcome measures
Measure	Injection of AAV2-REP1 n=6 Participants Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Change in Best Corrected Visual Acuity From Baseline	3.0 Letters Standard Deviation 4.0

SECONDARY outcome

Timeframe: 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).

Outcome measures

Outcome measures
Measure	Injection of AAV2-REP1 n=6 Participants Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Change in Retinal Macular Autofluorescence From Baseline Baseline to 12 Months	-3.4 mm^2 Standard Deviation 3.6
Change in Retinal Macular Autofluorescence From Baseline Baseline to 24 Months	2.8 mm^2 Standard Deviation 2.9

SECONDARY outcome

Timeframe: Baseline to 24 months

Microperimetry assessments. A negative change from baseline indicates disease worsening.

Outcome measures

Outcome measures
Measure	Injection of AAV2-REP1 n=6 Participants Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Changes in Microperimetry From Baseline	0.823 Average Threshold dB Standard Deviation 1.789

SECONDARY outcome

Timeframe: 24 months

Adverse events during treatment and follow-up period

Outcome measures

Outcome measures
Measure	Injection of AAV2-REP1 n=6 Participants Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Number of Participants Who Experience an Adverse Event	6 Participants

Adverse Events

Injection of AAV2-REP1

Serious events: 0 serious events

Other events: 6 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Injection of AAV2-REP1 n=6 participants at risk Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Injection of AAV2-REP1 (10e11 vg): Single Group: single arm study
Eye disorders Cataract	16.7% 1/6 • 24 months
Eye disorders Diplopia	16.7% 1/6 • 24 months
Eye disorders Vitreous Cells	16.7% 1/6 • 24 months
Eye disorders Anterior Chamber Cells	16.7% 1/6 • 24 months
Eye disorders Extrafoveal macular retinal hole in area of nonfunctioning retina	33.3% 2/6 • 24 months
Eye disorders Subretinal fluid	83.3% 5/6 • 24 months
Eye disorders Conjunctiva hemorrhage, edema	100.0% 6/6 • 24 months

Additional Information

Byron Lam , MD

University of Miami

Phone: 305-326-6021

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place