Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) - Retinitis Pigmentosa GTPase Regulator (RPGR)

An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR)

The Phase 1 part of the study is a dose escalation of subretinal administration of AAV2/5 vector to assess the safety of this vector in participants with XLRP caused by mutations in RPGR.

The Phase 2 part of the study is a cohort expansion of subretinal administration of AAV2/5 vector to assess the safety and efficacy of this vector in participants with XLRP caused by mutations in RPGR.

Study Overview

• Status: Completed
• Conditions: X-Linked Retinitis Pigmentosa
• Intervention / Treatment: Genetic: AAV2/5-RPGR

Detailed Description

This is an open-label phase 1/2 dose-escalation and cohort expansion trial to determine the safety and efficacy of subretinal administration of AAV2/5 vector in participants with XLRP caused by mutations in RPGR.

• Study Type: Interventional
• Enrollment (Actual): 49
• Phase: Phase 2; Phase 1

Contacts and Locations

Study Locations

• United Kingdom
  • Leeds, United Kingdom, LS9 7TF
    • Leeds Teaching Hospitals NHS Trust
  • London, United Kingdom
    • Moorfields Eye Hospital NHS Foundation Trust
• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts Eye and Ear Institute
  • Michigan
    • Ann Arbor, Michigan, United States, 48105
      • Kellogg Eye Center
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • UPMC Eye Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

Description

Key inclusion Criteria:

• Are aged 5 years or older male
• Have X-linked retinitis pigmentosa confirmed by a retinal specialist (CI or PI)

Key exclusion Criteria:

• Have participated in another research study involving an investigational medicinal therapy for ocular disease within the last 6 months

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Phase 1 (Part 1, Dose Escalation); Participants receive one of three doses of AAV2/5-RPGR	Genetic: AAV2/5-RPGR; Single, subretinal administration of AAV2/5-RPGR
Experimental: Phase 2 (Part 2; Expansion); Participants receive one of two doses of AAV2/5-RPGR	Genetic: AAV2/5-RPGR; Single, subretinal administration of AAV2/5-RPGR

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of Adverse Events related to the sub retinal administration of AAV2-RPGR	Safety is defined as the absence of advanced therapy medicinal product (ATIMP)-related safety events	18 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Improvement in visual function	Improvements in visual function as assessed by ocular examination	18 months
Improvement in retinal function	Improvements in retinal function as assessed by retinal assessement	18 months
Improvement in Quality of Life	•Quality of life will be measured by QoL questionnaire	18 months

Collaborators and Investigators

• Sponsor: MeiraGTx UK II Ltd
• Collaborators: Syne Qua Non Limited; Bionical Emas
• Investigators: Principal Investigator: James Bainbridge, Prof, University College, London

Study record dates

Study Major Dates

• Study Start (Actual): July 14, 2017
• Primary Completion (Actual): November 18, 2021
• Study Completion (Actual): November 18, 2021

Study Registration Dates

• First Submitted: August 1, 2017
• First Submitted That Met QC Criteria: August 16, 2017
• First Posted (Actual): August 17, 2017

Study Record Updates

• Last Update Posted (Estimate): December 7, 2022
• Last Update Submitted That Met QC Criteria: December 2, 2022
• Last Verified: November 1, 2022

More Information

Terms related to this study

• Keywords: XLRP RPGR
• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Retinal Dystrophies; Retinitis; Retinitis Pigmentosa
• Other Study ID Numbers: MGT009

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No