Choroideremia Gene Therapy Clinical Trial

Byron Lam

Status and phase

Completed

Phase 2

Conditions

Choroideremia

Treatments

Biological: Injection of AAV2-REP1 (10e11 vg)

Study type

Interventional

Funder types

Other

Identifiers

NCT02553135

20150371

Details and patient eligibility

About

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.

Full 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.

Enrollment

6 patients

Sex

Male

Ages

18+ years old

Volunteers

No Healthy Volunteers

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.