REP1 Gene Replacement Therapy for Choroideremia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

30 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-08-16

Study Completion Date

2021-07-23

Brief Summary

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The assessment of the efficacy (with respect to preservation of visual function and retinal structure) and safety of a single subretinal injection of AAV2.REP1 in participants with a confirmed diagnosis of choroideremia, as evaluated by various functional and anatomical outcomes measured over a number of time points up to 24 months post-treatment.

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Detailed Description

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Conditions

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Choroideremia

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

The decision about which eye to treat will be made on clinical grounds and will generally be the worse eye affected in cases where BCVA differs between the two eyes by 2 lines or more of ETDRS letters. The eye to be treated will be randomised in cases where the degeneration is relatively symmetrical between the two eyes, defined as:

* a difference in BCVA of no more than 1 line of ETDRS letters, and
* no more than 25% difference in the area of surviving RPE as measured by fundus autofluorescence.

Prospective participants having non-symmetrical retinal degeneration will be allocated to the non-randomised arm. The treated eye will generally be the worse eye. Prospective participants having relatively symmetrical retinal degeneration will be allocated to the randomised arm.

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

The study is designated as Open Label with no masking. However, in order to minimise bias evaluation of the treated eye and untreated fellow eye (control eye), the ophthalmic assessments (visual acuity, microperimetry, fundus autofluorescence, etc.) will be conducted by an appropriately qualified masked observer once the participant's treated eye has had time to heal after the surgical procedure and has regained its normal appearance and function.

Study Groups

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Treatment

Treated eye undergoes AAV-mediated REP1 gene replacement. AAV vector is delivered by subretinal injection.

Group Type EXPERIMENTAL

AAV-mediated REP1 gene replacement

Intervention Type GENETIC

AAV vector carrying human REP1 gene is delivered into the treated eye by subretinal injection

Control

Untreated eye

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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AAV-mediated REP1 gene replacement

AAV vector carrying human REP1 gene is delivered into the treated eye by subretinal injection

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

1. Candidate is willing and able to give informed consent for participation in the study.
2. Male aged 18 years or above.
3. Genetic or molecular confirmed diagnosis of choroideremia (REP1 protein deficiency).
4. Active disease visible clinically within the macula region.
5. Best corrected visual acuity better than or equal to 6/60 (20/200; Decimal 0.1; LogMAR 1.0) in the study eye.

Exclusion Criteria

1. Any female, or a male aged below 18 years.
2. An additional cause for sight loss (e.g. amblyopia) in the eye to be treated.
3. Any other significant ocular and non-ocular disease or disorder which, in the opinion of the investigator, may put the participants at risk because of participation in the study.
4. Inability to take systemic prednisolone for a period of 45 days.
5. Unwillingness to use barrier contraception methods for a period of three months following gene therapy surgery.
6. Participation in another research study involving an investigational product in the preceding 12 weeks.

Minimum Eligible Age

18 Years

Maximum Eligible Age

90 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No