Clinical trial NCT03252847: Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) - Retinitis Pigmentosa GTPase Regulator (RPGR)
Official title: An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/5-hRKp.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
PHASE2
Conditions: X-Linked Retinitis Pigmentosa
Keywords: XLRP RPGR
Lead sponsor: MeiraGTx UK II Ltd
Sponsor class: INDUSTRY
Collaborators: name: Syne Qua Non Limited
name: Bionical Emas
First posted: 2017-08-17
Enrollment: 49
Sex: MALE
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: SEQUENTIAL
Intervention model description: Biological
Primary purpose: TREATMENT

Brief summary: 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: 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.

Eligibility criteria: Key inclusion Criteria:

* Males aged 5 years or older
* 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

Primary outcomes:
measure: Number of Participants Meeting the Primary Outcome Defined as Any of the Below Events Occurring During the 9 Weeks Following Administration, at Least Possibly Related to the Advanced Therapy Investigational Medicinal Product (ATIMP), Not Surgery Alone.
timeFrame: 9 weeks
Secondary outcomes:
measure: Improvements in Visual Function as Assessed by Visual Acuity
timeFrame: Baseline and Month 6
measure: Improvements in Retinal Function as Assessed by Static Perimetry
timeFrame: Baseline and Month 6
measure: Quality of Life Measured by the Low Luminance Questionnaire (LLQ) Emotional Distress Domain Score
timeFrame: Baseline and Month 6
measure: Quality of Life Measured by the Low Luminance Questionnaire (LLQ) Extreme Lighting Domain Score
timeFrame: Baseline and Month 6
measure: Quality of Life Measured by the Low Luminance Questionnaire (LLQ) General Dim Lighting Domain Score
timeFrame: Baseline and Month 6
measure: Quality of Life Measured by the Low Luminance Questionnaire (LLQ) Mobility Domain Score
timeFrame: Baseline and Month 6
measure: Quality of Life Measured by the Low Luminance Questionnaire (LLQ) Peripheral Vision Domain Score
timeFrame: Baseline and Month 6
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts Eye and Ear Institute
state: Massachusetts
city: Ann Arbor
country: United States
facility: Kellogg Eye Center
state: Michigan
city: Pittsburgh
country: United States
facility: UPMC Eye Center
state: Pennsylvania
city: Leeds
country: United Kingdom
facility: Leeds Teaching Hospitals NHS Trust
city: London
country: United Kingdom
facility: Moorfields Eye Hospital NHS Foundation Trust
Study officials:
affiliation: University College, London
name: James Bainbridge, Prof
role: PRINCIPAL_INVESTIGATOR
References: