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REP1 Gene Replacement Therapy for Choroideremia (REGENERATE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02407678
Recruitment Status : Unknown
Verified June 2019 by University of Oxford.
Recruitment status was:  Active, not recruiting
First Posted : April 3, 2015
Last Update Posted : July 2, 2019
Moorfields Eye Hospital NHS Foundation Trust
University College, London
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment Phase
Choroideremia Genetic: AAV-mediated REP1 gene replacement Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description:

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.

Masking: None (Open Label)
Masking Description: 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.
Primary Purpose: Treatment
Official Title: An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)
Actual Study Start Date : August 2016
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Experimental: Treatment
Treated eye undergoes AAV-mediated REP1 gene replacement. AAV vector is delivered by subretinal injection.
Genetic: AAV-mediated REP1 gene replacement
AAV vector carrying human REP1 gene is delivered into the treated eye by subretinal injection

No Intervention: Control
Untreated eye

Primary Outcome Measures :
  1. Change from baseline in best corrected visual acuity in the treated eye [ Time Frame: 2 years ]

Secondary Outcome Measures :
  1. Change from baseline in the central visual field in the treated eye as determined by microperimetry [ Time Frame: 2 years ]
  2. 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 [ Time Frame: 2 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

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 identifier (NCT number): NCT02407678

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United Kingdom
Moorfields Eye Hospital NHS Foundation Trust
London, United Kingdom, EC1V 2PD
Oxford University Hospitals NHS Foundation Trust
Oxford, United Kingdom, OX3 9DU
Sponsors and Collaborators
University of Oxford
Moorfields Eye Hospital NHS Foundation Trust
University College, London
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Principal Investigator: Robert E MacLaren, MB ChB DPhil University of Oxford
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Responsible Party: University of Oxford Identifier: NCT02407678    
Other Study ID Numbers: REGEN2015
First Posted: April 3, 2015    Key Record Dates
Last Update Posted: July 2, 2019
Last Verified: June 2019
Additional relevant MeSH terms:
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Eye Diseases, Hereditary
Eye Diseases
Choroid Diseases
Uveal Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked