Safety and Dose-escalation Study of AAV2-hCHM in Participants With CHM (Choroideremia) Gene Mutations
A Phase 1/2 Safety Study in Subjects With CHM (Choroideremia) Gene Mutations Using an Adeno-Associated Virus Serotype 2 Vector to Deliver the Normal Human CHM Gene [AAV2-hCHM] to the Retina
1 other identifier
interventional
15
1 country
3
Brief Summary
This clinical study evaluates the safety and tolerability of AAV2-hCHM in participants with Choroideremia gene mutations.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for phase_1
Started Jan 2015
Longer than P75 for phase_1
3 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
January 12, 2015
CompletedStudy Start
First participant enrolled
January 15, 2015
CompletedFirst Posted
Study publicly available on registry
January 19, 2015
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 12, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
October 12, 2022
CompletedResults Posted
Study results publicly available
November 2, 2023
CompletedJanuary 25, 2024
January 1, 2024
7.7 years
January 12, 2015
October 12, 2023
January 23, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
An adverse event (AE) was defined as any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. TEAEs were AEs that occurred on or after the day of study drug administration. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.
Up to 5 years
Secondary Outcomes (3)
Number of Participants With Anti-AAV2 Viral Capsid Antibody Titers That Rose Above Baseline At Least Once After Dosing
Up to 2 years
Number of Participants With Cellular Immune Response to AAV2 Through Interferon Gamma Enzyme-linked Immunosorbent Spot (ELISpot) Assay
Up to 2 years
Number of Participants With Cellular Immune Response to Rab Escore Protein-1 (REP-1) Through Interferon Gamma ELISPOT Assay
Up to 2 years
Study Arms (3)
Cohort 1: AAV2-hCHM Dose 1
EXPERIMENTALSingle, unilateral subretinal administration of a single low dose range of AAV2-hCHM.
Cohort 2: AAV2-hCHM Dose 2
EXPERIMENTALSingle, unilateral subretinal administration of a single high dose range of AAV2-hCHM.
Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2
EXPERIMENTALSingle, unilateral subretinal administration of a single high dose range of AAV2-hCHM.
Interventions
Comparison of different dosages of AAV2-hCHM
Eligibility Criteria
You may qualify if:
- Male at least 18 years of age diagnosed with CHM gene mutation
- Central visual field (VF) \<30° in any of the 24 meridians (using Goldmann perimetry III4e isopter) in the eye to be injected
- Any evidence of functioning outer retinal cells within the central 10°
You may not qualify if:
- Previous history of ocular inflammatory disease (uveitis)
- Prior intraocular surgery within six months
- Participation in a previous gene therapy research trial within one year of enrollment or participation in any other ocular gene therapy trial
- Participation in a clinical study with an investigational drug in the past six months
- Grossly asymmetrical disease, or other eye morbidity, which may render the contralateral eye ineffective as a control
- Visual acuity \<20/200 on standard Early Treatment of Diabetic Retinopathy Study (ETDRS) testing in the eye to be injected
- Presence of disease which may preclude the participant from participation in this trial
- Use of medications known to be neuroprotective or retino-toxic that could potentially interfere with the disease process and/or cause ocular adverse events; individuals who discontinue use of these compounds for 6 months may become eligible
- Identification by the investigator as being unable or unwilling to perform/be compliant with study procedures.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114, United States
University of Pennsylvania
Philadelphia, Pennsylvania, 19014, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
Related Publications (1)
Aleman TS, Huckfeldt RM, Serrano LW, Pearson DJ, Vergilio GK, McCague S, Marshall KA, Ashtari M, Doan TM, Weigel-DiFranco CA, Biron BS, Wen XH, Chung DC, Liu E, Ferenchak K, Morgan JIW, Pierce EA, Eliott D, Bennett J, Comander J, Maguire AM. Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial. Ophthalmology. 2022 Oct;129(10):1177-1191. doi: 10.1016/j.ophtha.2022.06.006. Epub 2022 Jun 15.
PMID: 35714735DERIVED
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Results Point of Contact
- Title
- Clinical Director
- Organization
- Spark Therapeutics
Publication Agreements
- PI is Sponsor Employee
- No
- Restrictive Agreement
- Yes
Study Design
- Study Type
- interventional
- Phase
- phase 1
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- TREATMENT
- Intervention Model
- PARALLEL
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 12, 2015
First Posted
January 19, 2015
Study Start
January 15, 2015
Primary Completion
October 12, 2022
Study Completion
October 12, 2022
Last Updated
January 25, 2024
Results First Posted
November 2, 2023
Record last verified: 2024-01