REP1 Gene Replacement Therapy for Choroideremia

Phase 2

Completed

• Conditions: Choroideremia
• Interventions: Genetic: AAV-mediated REP1 gene replacement

• Registration Number: NCT02407678
• Lead Sponsor: University of Oxford

Brief Summary

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.

Detailed Description

Not available

Basic Information
|
Recruitment & Eligibility
|
Study & Design
|
Trial Locations

Study Timeline

• Study First Submitted: 2015-03-10
• Study First Submitted QC: 2015-03-30
• Study First Posted: 2015-04-03
• Study Start: 2016-08-16
• Status Verified: 2021-07
• Primary Completion: 2021-07-23
• Study Completion: 2021-07-23
• Last Update Submitted: 2021-08-04
• Last Update Posted: 2021-08-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 30

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.

Read More

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.

Read More

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

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

Primary Outcome Measures

Name	Time	Method
Change from baseline in best corrected visual acuity in the treated eye	2 years

Secondary Outcome Measures

Name	Time	Method
Change from baseline in the area of surviving retinal pigment epithelium in the treated eye as measured by fundus autofluorescence, compared to the untreated fellow eye (control eye) after randomisation of treatment to one eye or the other	2 years
Change from baseline in the central visual field in the treated eye as determined by microperimetry	2 years

Trial Locations

Locations (2)

Oxford University Hospitals NHS Foundation Trust; 🇬🇧 Oxford, United Kingdom

Moorfields Eye Hospital NHS Foundation Trust; 🇬🇧 London, United Kingdom