NCT01461213

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 Summary

\- 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.

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Interventions

rAAV2.REP1DRUG
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.

Study Locations

FacilityCityStateCountry
Moorfields Eye Hospital NHS Foundation TrustLondonUnited Kingdom
St Mary's Hospital, Central Manchester University Hospitals NHS Foundation TrustManchesterUnited Kingdom
Oxford Radcliffe Hospitals NHS TrustOxfordUnited Kingdom
Eye Unit, Southampton University Hospitals NHS TrustSouthamptonUnited Kingdom

Official Trial Information

View on ClinicalTrials.gov

Data sourced from ClinicalTrials.gov. Last updated: April 14, 2026