This trial is active, not recruiting.

Condition choroideremia
Treatment injection of aav2-rep1 (10e11 vg)
Phase phase 2
Sponsor Byron Lam
Start date September 2015
End date February 2018
Trial size 6 participants
Trial identifier NCT02553135, 20150371


Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification safety/efficacy study
Intervention model single group assignment
Masking open label
Primary purpose treatment
Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.
injection of aav2-rep1 (10e11 vg)
Single Group: single arm study

Primary Outcomes

Change in best corrected visual acuity from baseline
time frame: 24 Months

Secondary Outcomes

Change in retinal macular autofluorescence from baseline
time frame: 24 months
Changes in microperimetry from baseline
time frame: 24 months
Number of participants who experience an adverse event
time frame: 24 months

Eligibility Criteria

Male participants at least 18 years old.

Inclusion Criteria: - 18 Years and older - Male - Able to give informed consent - Genetically confirmed diagnosis of choroideremia - Active disease visible clinically within the macula region - Best-corrected visual acuity equal to or worse than 20/32 but better than or equal to 20/200 in the study eye. Exclusion Criteria: - Female - Under the age of 18 - History of amblyopia in the study eye - Men unwilling to use barrier contraception methods - Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control - Any other significant ocular and non-ocular disease/disorder or retinal surgery - Contraindication to use of medications or contrast agents - Participated in research study involving an investigational product in the past 12 weeks - Having had gene or cellular therapy at any time prior to this study.

Additional Information

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)
Principal investigator BYRON LAM, MD
Description This is a Phase II, open label study involving patients with a clinical phenotype of choroideremia and a confirmed CHM genotype. Following consent, patients will be required to attend an initial screening visit (Visit 1). Within 2 weeks of the screening visit patients will undergo a surgical procedure (Visit 2) under general anesthesia which will include a standard vitrectomy, retinal detachment and administration of a subretinal injection of AAV2-REP1 (1x1011 genome particles). Patients will be required to attend a further 9 study visits (Visits 3-11) over a 24 month period for functional, and anatomical assessments as well as monitoring of adverse events. The primary endpoint is the change from baseline in visual acuity in the study eye, compared to control eye. Secondary study endpoints are, change from baseline in autofluorescence evaluation, microperimetry readings and other anatomic and functional outcomes (all in the study eye compared to control eye). Secondary endpoints also include safety assessments to be conducted throughout the study. The fellow eyes of these patients will be utilized as controls in this study and will receive no study treatment.
Trial information was received from ClinicalTrials.gov and was last updated in April 2016.
Information provided to ClinicalTrials.gov by University of Miami.