Gene Therapy for Blindness Caused by Choroideremia

University of Oxford

Status and phase: Completed; Phase 2; Phase 1

Conditions: Choroideremia

Treatments: Drug: rAAV2.REP1

Study type: Interventional

Funder types: Other

Identifiers

NCT01461213

2009-014617-27 (EudraCT Number)

CHM09/01

Details and patient eligibility

About

• Primary objective: To assess the safety and tolerability of the AAV.REP1 vector, administered at two different doses to the retina in 12 patients with a diagnosis of choroideremia.

• Secondary Objective: To identify any therapeutic benefit as evidenced by a slowing down of the retinal degeneration assessed by functional and anatomical methods in the treated eye compared to the control eye 24 months after gene delivery.

Full description

Detailed description may be found in the following scientific publication:

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial, The Lancet, Volume 383, Issue 9923, Pages 1129 - 1137 (29 March 2014).

Links: www.thelancet.com/journals/lancet/article/PIIS0140-6736(13)62117-0/abstract ; http://dx.doi.org/doi:10.1016/S0140-6736(13)62117-0

Enrollment: 14 patients

Sex: Male

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Participant is willing and able to give informed consent for participation in the study,
• Male aged 18 years or above,
• Diagnosed with choroideraemia and in good health,
• Active disease with SLO changes visible within the macula region,
• Willing to allow his or her General Practitioner and consultant, if appropriate, to be notified of participation in the study,
• Vision at least 6/60 or better in the study eye.

Exclusion criteria

• Female and child participants (under the age of 18),
• Men unwilling to use barrier contraception methods, if relevant,
• Previous history of retinal surgery or ocular inflammatory disease (uveitis),
• Grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control,
• Any other significant disease or disorder which, in the opinion of the Investigator, may either put the participants at risk because of participation in the study, or may influence the result of the study, or the participant's ability to participate in the study,
• Participants who have participated in another research study involving an investigational product in the previous 12 weeks.

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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14 participants in 2 patient groups

Dose 1

Experimental group

Description:

Dose 1 = single subretinal injection of vector suspension containing approximately 10e10 rAAV2.REP1 genome particles. Six patients have now received Dose 1.

Treatment:

Drug: rAAV2.REP1

Dose 2

Experimental group

Description:

Dose 2 = single subretinal injection of vector suspension containing approximately 10e11 rAAV2.REP1 genome particles. Three patients thus far have received Dose 2.

Treatment:

Drug: rAAV2.REP1