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Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
Published on: November 2, 2018
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CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA.
M Dominik Fischer1,2,3,4, G Alex Ochakovski1,2, Benjamin Beier3
1University Eye Hospital, Centre for Ophthalmology, Tübingen, Germany.
Retina (Philadelphia, Pa.)
|October 12, 2018
Summary
Gene therapy using AAV2-REP1 shows promise for treating choroideremia (CHM) by potentially improving vision and retinal sensitivity. Further research is needed to confirm long-term efficacy in patients with this rare genetic eye disease.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Choroideremia (CHM) is a rare, inherited retinal degeneration caused by mutations in the CHM gene, leading to a lack of functional Rab escort protein 1 (REP1).
- Current treatments for CHM are limited, necessitating the exploration of novel therapeutic approaches.
Purpose of the Study:
- To evaluate the safety and efficacy of retinal gene therapy using an adeno-associated virus vector (AAV2-REP1) delivering a functional CHM gene in patients with choroideremia.
- To assess the impact of AAV2-REP1 gene therapy on visual acuity, retinal sensitivity, and fixation in CHM patients.
Main Methods:
- The THOR study (NCT02671539) was a Phase 2, open-label, single-center, randomized trial involving six male patients aged 51-60 with CHM.
- Patients received a single 0.1-mL subretinal injection of AAV2-REP1 (10 genome particles) during vitrectomy, with twelve-month data reported.
Main Results:
- Four patients showed minor changes in best-corrected visual acuity (BCVA) in study eyes, with one gaining 17 ETDRS letters and another losing 14.
- Five out of six patients demonstrated improvements in mean retinal sensitivity, peak retinal sensitivity, and gaze fixation area.
- Anatomical changes and adverse events were comparable between study and control eyes and consistent with the surgical procedure.
Conclusions:
- Retinal gene therapy with AAV2-REP1 appears capable of maintaining, and in some instances improving, visual acuity in patients with choroideremia.
- Longer-term follow-up is necessary to ascertain the sustained benefits of AAV2-REP1 gene therapy for choroideremia.
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