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

Study Overview
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Brief Summary
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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.

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 AAV2/5 vector in participants with XLRP caused by mutations in RPGR.

Official Title
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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)

Conditions
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X-Linked Retinitis Pigmentosa

Intervention / Treatment
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* Genetic: AAV2/5-RPGR


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 5 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

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


Arms and Interventions

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

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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XLRP RPGR