Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene

Phase 1

Completed

• Conditions: Leber's Congenital Amaurosis
• Interventions: Drug: QR-110

• Registration Number: NCT03140969
• Lead Sponsor: Laboratoires Thea

Brief Summary

The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.

Detailed Description

The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation. Subjects will receive QR-110 in one eye every 3 months, for a maximum of 4 doses. Up to 3 dose levels of QR-110 will be evaluated.

Study Timeline

• Study First Submitted: 2017-05-01
• Study First Submitted QC: 2017-05-03
• Study First Posted: 2017-05-04
• Study Start: 2017-10-16
• Primary Completion: 2019-10-02
• Study Completion: 2019-10-02
• Disposition First Submitted: 2020-10-01
• Results First Submitted: 2022-11-10
• Results First Submitted QC: 2022-12-12
• Disposition First Submitted QC: 2022-12-12
• Results First Posted: 2022-12-27
• Disposition First Posted: 2022-12-27
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-03
• Last Update Posted: 2024-10-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 11

Inclusion Criteria

• Male or female, ≥ 6 years of age at Screening with a clinical diagnosis of LCA and a molecular diagnosis of homozygosity or compound heterozygosity for the CEP290 p.Cys998X mutation.
• Best-corrected visual acuity greater than or equal to light perception in both eyes and equal to or worse than LogMAR +1.0 (Snellen notation 20/200) in the worse eye and equal to or worse than LogMAR +0.7 (Snellen notation 20/100) in the contralateral eye.
• Detectable outer nuclear layer (ONL) in the area of the macula.
• An electroretinogram (ERG) result consistent with LCA.
• Clear ocular media and adequate pupillary dilation to permit good quality retinal imaging.

Exclusion Criteria

• Syndromic disease.
• Pregnant or breast-feeding female.
• Any clinically significant cardiac disease or defect.
• One or more coagulation parameters outside of the normal range.
• Any ocular disease or condition that could compromise treatment safety, visual acuity or interfere with assessment of efficacy and safety.
• Prior receipt of intraocular surgery or intravitreal injection within 3 months prior to study start or planned intraocular surgery or procedure during the course of the study.
• Use of any investigational drug or device within 90 days or 5 half-lives of Day 1, whichever is longer, or plans to participate in another study of a drug or device during the PQ-110-001 study period.
• Any prior receipt of genetic therapy for LCA

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SEQUENTIAL

Arm && Interventions

Group	Intervention	Description
QR-110	QR-110	Administered every 3 months

Primary Outcome Measures

Name	Time	Method
Frequency and Severity of Ocular Adverse Events in the Treatment and Contralateral Eyes	1 year

Secondary Outcome Measures

Name	Time	Method
Frequency and Severity of Non-ocular Adverse Events	1 year
Change in Best-corrected Visual Acuity (BCVA)	1 year
Change in Full-field Stimulus Test (FST)	1 year	Average Blue Light Score

Trial Locations

Locations (3)

Ghent University Hospital and Ghent University; 🇧🇪 Ghent, Belgium

Scheie Eye Institute, University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States

University of Iowa; 🇺🇸 Iowa City, Iowa, United States