Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)
A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis
1 other identifier
interventional
27
1 country
9
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for phase_1
Started May 2015
Longer than P75 for phase_1
9 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 2, 2015
CompletedFirst Posted
Study publicly available on registry
April 15, 2015
CompletedStudy Start
First participant enrolled
May 1, 2015
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2019
CompletedResults Posted
Study results publicly available
July 1, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
May 9, 2023
CompletedJune 12, 2023
June 1, 2023
3.9 years
April 2, 2015
May 18, 2020
June 8, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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.
From Day 0 to Month 12 (12 months)
Secondary Outcomes (3)
Change From Baseline in Best Corrected Visual Acuity (BCVA)
From Day 0 to Month 12 (12 Months)
Change From Baseline in Schisis Cavity Size on Optical Coherence Tomography (OCT)
From Day 0 to Month 12 (12 months)
Change From Baseline in B-wave Amplitude in Electroretinogram (ERG) Responses
From Day 0 to Month 12 (12 months)
Study Arms (4)
Groups 1A and 1B
EXPERIMENTALSubjects at least 18 y/o treated with a lower dose of rAAV2tYF-CB-hRS1 study drug.
Groups 2 and 2A
EXPERIMENTALSubjects at least 6 y/o treated with a middle dose of rAAV2tYF-CB-hRS1 study drug.
Group 3
EXPERIMENTALSubjects at least 18 y/o treated with a higher dose of rAAV2tYF-CB-hRS1 study drug.
Group 4
EXPERIMENTALSubjects at least 6 y/o treated with a maximum tolerated dose of rAAV2tYF-CB-hRS1 study drug determined for Groups 1A, 1B, 2 and 3.
Interventions
adeno-associated virus vector expressing retinoschisin
Eligibility Criteria
You may qualify if:
- Retinal disease consistent with a diagnosis of XLRS and documented mutations in the RS1 gene
- Male individual at least 18 years of age (dose escalation phase) or at least 6 years of age (maximum tolerated dose phase),
- Able to perform tests of visual and retinal function,
- Visual acuity specified for each group
- Not treated with CAIs currently or within 3 months prior to study enrollment,
- Have acceptable laboratory parameters.
You may not qualify if:
- Prior receipt of any AAV gene therapy product,
- Pre-existing eye conditions that would preclude the planned intravitreal injection or interfere with interpretation of study endpoints or complications of vector administration.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (9)
University of California San Francisco, Dept. of Ophthalmology
San Francisco, California, 94143, United States
University of Miami - Miller School of Medicine Bascom Palmer Eye Institute
Miami, Florida, 33136, United States
The Wilmer Eye Institute, Johns Hopkins Hospital
Baltimore, Maryland, 21287, United States
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114, United States
University of Michigan Kellogg Eye Center
Ann Arbor, Michigan, 48105, United States
Duke Eye Center, Duke University Medical Center
Durham, North Carolina, 27710, United States
Casey Eye Institute, Oregon Health and Sciences University
Portland, Oregon, 97239, United States
Retina Foundation of the Southwest
Dallas, Texas, 75231, United States
Baylor College of Medicine, Alkek Eye Center
Houston, Texas, 77030, United States
Related Publications (1)
Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3.
PMID: 22245536BACKGROUND
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Results Point of Contact
- Title
- Dr. Matt Feinsod
- Organization
- AGTC
Study Officials
- STUDY DIRECTOR
Theresa Heah, MD
Applied Genetics Technologies Corporation
Publication Agreements
- PI is Sponsor Employee
- No
- Restriction Type
- LTE60
- Restrictive Agreement
- Yes
Study Design
- Study Type
- interventional
- Phase
- phase 1
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- TREATMENT
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 2, 2015
First Posted
April 15, 2015
Study Start
May 1, 2015
Primary Completion
April 1, 2019
Study Completion
May 9, 2023
Last Updated
June 12, 2023
Results First Posted
July 1, 2020
Record last verified: 2023-06