Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene

NCT04671433 | Completed Phase 3 DMC FDA Drug

• 3 other identifiers: CR109258MGT-RPGR-0212020-002873-88
• Study Type: interventional
• Target: 105
• Locations: 11 countries
• Sites: 28

Brief Summary

A clinical trial of AAV5-RPGR vector for participants with X-linked retinitis pigmentosa (XLRP)

Conditions

X-Linked Retinitis Pigmentosa

Outcome Measures

Primary Outcomes (1)

• Change From Baseline to Week 52 in Vision-guided Mobility Assessment (VMA) as Measured by the Ability of the Participant to Navigate Through a VMA Maze

  Change from baseline to Week 52 in VMA as measured by the ability of the participant to navigate through a VMA maze.

  From Baseline to 52 Weeks

Secondary Outcomes (14)

• Change From Baseline in Mean Retinal Sensitivity Within the Central 10 Degrees Excluding Scotoma (Mean Retinal Sensitivity Within the Central 10 Degree Excluding Scotoma in Static Perimetry [MRS10]) in Static Perimetry at Week 52

  From Baseline to Week 52

• Change From Baseline in Mean Retinal Sensitivity of Worse-seeing Eye Within the Central 10 Degrees Excluding Scotoma in Static Perimetry (MRS10) at Week 52

  From Baseline to Week 52

• Change in Retinal Function as Assessed by Pointwise Response in Full Visual Field at Week 52

  From Baseline to Week 52

• Change in Retinal Function as Assessed by Pointwise Response in Worse-seeing Eye in Full Visual Field at Week 52

  From Baseline to Week 52

• Change in Retinal Function as Assessed by Pointwise Response in the Central 30 Degrees Visual Field at Week 52

  From Baseline to Week 52

Study Arms (3)

Experimental - Immediate Treatment

EXPERIMENTAL

Intermediate dose.

Biological: Genetic: AAV5-hRKp.RPGR

Deferred Treatment

OTHER

Deferred Treatment

Biological: Genetic: AAV5-hRKp.RPGR

Experimental Immediate Treatment

EXPERIMENTAL

Low dose.

Biological: Genetic: AAV5-hRKp.RPGR

Interventions

Genetic: AAV5-hRKp.RPGR BIOLOGICAL

Bilateral, sub-retinal administration of AAV5-hRKp.RPGR - immediate treatment group

Also known as: botaretigene sparoparvovec

Experimental - Immediate Treatment; Experimental Immediate Treatment

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or female
• years of age or older
• Has XLRP confirmed by a retinal specialist and has a predicted disease-causing sequence variant in RPGR confirmed by an accredited laboratory

You may not qualify if:

• Has had ocular surgery within 3 months prior to screening or is anticipated to require ocular surgery within 6 months after the study intervention administration
• Any investigational ocular treatment or any other ocular treatment that could confound the interpretation of the efficacy results or affect participant compliance with the visit schedule
• Has undergone prior retinal surgery involving the macula, macular laser photocoagulation, external-beam radiation therapy, transpupillary thermotherapy, glaucoma filtration surgery or corneal surgery

Sponsors & Collaborators

• Janssen Research & Development, LLC: lead

Study Sites (28)

Shiley Eye Institute Jacobs Retina Center

La Jolla, California, 92093 0946, United States

Location

Childrens Hospital

Los Angeles, California, 90027, United States

Location

Stanford Health Care

Palo Alto, California, 94303, United States

Location

VitreoRetinal Associates, PA

Gainesville, Florida, 32607, United States

Location

Emory University

Atlanta, Georgia, 30322, United States

Location

Massachusetts General Hospital - Center for Celiac Research and Treatment

Boston, Massachusetts, 02114, United States

Location

Univ of Michigan Medical Center

Ann Arbor, Michigan, 48105, United States

Location

Duke Eye Center

Durham, North Carolina, 27705, United States

Location

University of Pittsburgh Medical Center (UPMC)

Pittsburgh, Pennsylvania, 15213, United States

Location

Retina Consultants of Houston

Bellaire, Texas, 77401, United States

Location

UZ Gent

Ghent, 9000, Belgium

Location

Hospital For Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

Rigshospitalet Glostrup

Glostrup Municipality, 2600, Denmark

Location

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Paris, 75012, France

Location

Hadassah Medical Center

Jerusalem, 91120, Israel

Location

Azienda Ospedaliero Universitaria Careggi

Florence, 50134, Italy

Location

Ospedale San Paolo

Milan, 20142, Italy

Location

Azienda Ospedaliera Univ.- Università Degli studi della Campania - Luigi Vanvitelli

Naples, 80131, Italy

Location

IRCCS Fondazione G.B. Bietti per lo Studio e la Ricerca in Oftalmologia ONLUS

Roma, 00198, Italy

Location

VUMC Amsterdam

Amsterdam, 1105AZ, Netherlands

Location

Radboudumc

Nijmegen, 6525EX, Netherlands

Location

Hosp Univ Fund Jimenez Diaz

Madrid, 28040, Spain

Location

University Hospital Basel, Eye Clinic/Institute of Molecular and Clinical

Basel, 4031, Switzerland

Location

Universite de Lausanne, Hopital ophtalmique Jules-Gonin

Lausanne, 1004, Switzerland

Location

NHS Lothian

Edinburgh, EH3 9HA, United Kingdom

Location

Gartnavel General Hospital

Glasgow, G12 0YN, United Kingdom

Location

St James University Hospital

Leeds, LS9 7TF, United Kingdom

Location

Moorfields Eye Hospital

London, EC1V 2PD, United Kingdom

Location

Study Officials

• Janssen Research & Development, LLC Clinical Trial

  Janssen Research & Development, LLC

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: No intervention - deferred treatment group (Bilateral, subretinal administration of AAV5-RPGR to be administered in the follow-up study)
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: Bilateral, subretinal administration of AAV5-RPGR - immediate treatment group

Study Record Dates

• First Submitted: November 5, 2020
• First Posted: December 17, 2020
• Study Start: December 4, 2020
• Primary Completion: September 30, 2024
• Study Completion: September 30, 2024
• Last Updated: March 16, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1); CH (2); CA (1); ES (1); GB (4); NL (2); IT (4); BE (1); DK (1); US (10); IL (1)