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

NCT ID: NCT03252847

Last Updated: 2025-01-08

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE1/PHASE2

Total Enrollment

49 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-07-31

Study Completion Date

2021-11-18

Brief Summary

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Phase 1 of the study is a dose escalation of the subretinal administration of AAV5-hRKp.RPGR vector to assess the safety of this vector in participants with XLRP caused by mutations in RPGR. Participants enrolled in Phase 1 were assigned to a dose group based on when they enrolled (i.e., sequential assignment).

Phase 2 of the study is a cohort expansion of the subretinal administration of AAV5-hRKp.RPGR vector to assess the safety and efficacy of this vector in participants with XLRP caused by mutations in RPGR. Participants enrolled in Phase 2 were randomized to immediate or deferred treatment.

Detailed Description

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This is an open-label phase 1/2 dose-escalation and cohort expansion trial to determine the safety and efficacy of subretinal administration of AAV5-hRKp.RPGR vector in participants with XLRP caused by mutations in RPGR.

Conditions

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X-Linked Retinitis Pigmentosa

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

SEQUENTIAL

Biological
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Phase 1 (Part 1, Dose Escalation)

Participants receive one of three doses of AAV5-RPGR

Group Type EXPERIMENTAL

AAV5-RPGR

Intervention Type GENETIC

Single, subretinal administration of AAV5-RPGR

Phase 2 (Part 2; Expansion)

Participants receive one of two doses of AAV5-RPGR

Group Type EXPERIMENTAL

AAV5-RPGR

Intervention Type GENETIC

Single, subretinal administration of AAV5-RPGR

Interventions

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AAV5-RPGR

Single, subretinal administration of AAV5-RPGR

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

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

5 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Syne Qua Non Limited

INDUSTRY

Sponsor Role collaborator

Bionical Emas

INDUSTRY

Sponsor Role collaborator

MeiraGTx UK II Ltd

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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James Bainbridge, Prof

Role: PRINCIPAL_INVESTIGATOR

University College, London

Locations

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Massachusetts Eye and Ear Institute

Boston, Massachusetts, United States

Site Status

Kellogg Eye Center

Ann Arbor, Michigan, United States

Site Status

UPMC Eye Center

Pittsburgh, Pennsylvania, United States

Site Status

Leeds Teaching Hospitals NHS Trust

Leeds, , United Kingdom

Site Status

Moorfields Eye Hospital NHS Foundation Trust

London, , United Kingdom

Site Status

Countries

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United States United Kingdom

References

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Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J. Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa. Am J Ophthalmol. 2024 Nov;267:122-134. doi: 10.1016/j.ajo.2024.05.034. Epub 2024 Jun 12.

Reference Type DERIVED
PMID: 38871269 (View on PubMed)

Provided Documents

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Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

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MGT009

Identifier Type: -

Identifier Source: org_study_id

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