Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)

Beacon Therapeutics27 enrolled

Overview

This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector expressing retinoschisin (rAAV2tYF-CB-hRS1) in patients with X-linked retinoschisis. Up to 27 participants will be enrolled and 3 dose levels will be evaluated in a dose escalation format.

This will be a non-randomized, open label, Phase 1/2 dose escalation study. Up to 27 participants will be enrolled. Each participant will receive the study agent by intravitreal injection in one eye on a single occasion. Enrollment will begin with the lowest dose and will proceed to higher doses only after review of safety data by a Data and Safety Monitoring Committee (DSMC). Participants in the dose escalation phase will be ≥ 18 years of age. After the maximum tolerated dose is identified individuals ≥ 6 years of age will be enrolled. Safety will be measured by the number and proportion of participants experiencing adverse events and immune response to RS1. Efficacy will be measured by evaluation of changes in visual function and schisis cavity size.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

X-linked Retinoschisis

Interventions

rAAV2tYF-CB-hRS1BIOLOGICAL

adeno-associated virus vector expressing retinoschisin

Eligibility

Sex: MALEMin age: 6 Years

Medical Language ↔ Plain English

Inclusion Criteria include: 1. Retinal disease consistent with a diagnosis of XLRS and documented mutations in the RS1 gene 2. Male individual at least 18 years of age (dose escalation phase) or at least 6 years of age (maximum tolerated dose phase), 3. Able to perform tests of visual and retinal function, 4. Visual acuity specified for each group 5. Not treated with CAIs currently or within 3 months prior to study enrollment, 6. Have acceptable laboratory parameters. Exclusion Criteria include: 1. Prior receipt of any AAV gene therapy product, 2. Pre-existing eye conditions that would preclude the planned intravitreal injection or interfere with interpretation of study endpoints or complications of vector administration.

Locations (9)

University of California San Francisco, Dept. of Ophthalmology

San Francisco, California, United States

University of Miami - Miller School of Medicine Bascom Palmer Eye Institute

Miami, Florida, United States

The Wilmer Eye Institute, Johns Hopkins Hospital

Baltimore, Maryland, United States

Outcomes

Primary Outcomes

Number of Participants Experiencing Adverse Events

Number of participants with ocular adverse events, assessed by standard ophthalmic examination, including slit lamp biomicroscopy, tonometry, and indirect ophthalmoscopy.

Time frame: From Day 0 to Month 12 (12 months)

Secondary Outcomes

Change From Baseline in Best Corrected Visual Acuity (BCVA)

Change in ETDRS (Early Treatment of Diabetic Retinopathy) Letter Score. Minimum value=0; Maximum value=100. Higher scores indicate better visual acuity. Change = 12 Mo value - Baseline value

Time frame: From Day 0 to Month 12 (12 Months)

Change From Baseline in Schisis Cavity Size on Optical Coherence Tomography (OCT)

Change in cystic cavity volume (mm\^3), obtained from spectral domain optical coherence tomography (SD-OCT) of the retina, yielding volumetric measures of schisis cavity size and total cyst cavity. Change = 12 Mo value - Baseline value

Time frame: From Day 0 to Month 12 (12 months)

Change From Baseline in B-wave Amplitude in Electroretinogram (ERG) Responses

Change in dark-adapted 3.0 B-wave amplitude (μV). Change = 12 Mo value - Baseline value

Time frame: From Day 0 to Month 12 (12 months)

Data from ClinicalTrials.gov

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