Gene Therapy for Blindness Caused by Choroideremia
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ClinicalTrials.gov Identifier: NCT01461213 |
Recruitment Status :
Completed
First Posted : October 28, 2011
Last Update Posted : November 17, 2017
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- 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.
Condition or disease | Intervention/treatment | Phase |
---|---|---|
Choroideremia | Drug: rAAV2.REP1 | Phase 1 Phase 2 |
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
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 14 participants |
Allocation: | Non-Randomized |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) |
Study Start Date : | October 2011 |
Actual Primary Completion Date : | October 2017 |
Actual Study Completion Date : | October 2017 |

Arm | Intervention/treatment |
---|---|
Experimental: Dose 1
Dose 1 = single subretinal injection of vector suspension containing approximately 10e10 rAAV2.REP1 genome particles. Six patients have now received Dose 1.
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Drug: rAAV2.REP1
Single subretinal injection of rAAV2.REP1 vector suspension containing 10e12 genome particles per ml. Dose 1 = dose containing approximately 10e10 rAAV2.REP1 genome particles. Dose 2 = dose containing approximately 10e11 rAAV2.REP1 genome particles.
Other Name: Adeno-associated viral vector |
Experimental: Dose 2
Dose 2 = single subretinal injection of vector suspension containing approximately 10e11 rAAV2.REP1 genome particles. Three patients thus far have received Dose 2.
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Drug: rAAV2.REP1
Single subretinal injection of rAAV2.REP1 vector suspension containing 10e12 genome particles per ml. Dose 1 = dose containing approximately 10e10 rAAV2.REP1 genome particles. Dose 2 = dose containing approximately 10e11 rAAV2.REP1 genome particles.
Other Name: Adeno-associated viral vector |
- Visual acuity [ Time Frame: 6 months ]Best corrected visual acuity, following cataract surgery if indicated
- Microperimetry, OCT and fundus autofluorescence [ Time Frame: 24 months ]Structure function correlations at the margins of the retinal degeneration

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01461213
United Kingdom | |
Moorfields Eye Hospital NHS Foundation Trust | |
London, United Kingdom, EC1V 2PD | |
St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust | |
Manchester, United Kingdom, M13 9WL | |
Oxford Radcliffe Hospitals NHS Trust | |
Oxford, United Kingdom, OX3 9DU | |
Eye Unit, Southampton University Hospitals NHS Trust | |
Southampton, United Kingdom, SO16 6YD |
Study Chair: | Robert E MacLaren, MB ChB DPhil | University of Oxford, Oxford Radcliffe Hospitals NHS Trust and Moorfields Eye Hospital | |
Principal Investigator: | Miguel C Seabra, MD PhD | Imperial College London | |
Principal Investigator: | Andrew R Webster, MD | UCL Institute of Ophthalmology and Moorfields Eye Hospital | |
Principal Investigator: | Susan M Downes, MD | Oxford University Hospitals NHS Trust | |
Principal Investigator: | Graeme C Black, MB BCh DPhil | University of Manchester and Central Manchester University Hospitals NHS Foundation Trust | |
Principal Investigator: | Andrew J Lotery, MD | University of Southampton and Southampton University Hospitals Trust | |
Principal Investigator: | Len W Seymour, PhD | University of Oxford | |
Principal Investigator: | Tanya Tolmachova, PhD | Imperial College London |
Responsible Party: | University of Oxford |
ClinicalTrials.gov Identifier: | NCT01461213 |
Other Study ID Numbers: |
CHM09/01 2009-014617-27 ( EudraCT Number ) |
First Posted: | October 28, 2011 Key Record Dates |
Last Update Posted: | November 17, 2017 |
Last Verified: | November 2017 |
Tapetoretinal degeneration, choroideraemia, X-linked retinitis pigmentosa |
Choroideremia Eye Diseases, Hereditary Eye Diseases Choroid Diseases |
Uveal Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked |