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

Thea Pharma

Status and phase

Completed

Phase 2

Phase 1

Conditions

Leber's Congenital Amaurosis

Treatments

Drug: QR-110

Study type

Interventional

Funder types

Industry

Other

Identifiers

NCT03140969

PQ-110-001

2017-000813-22 (EudraCT Number)

Details and patient eligibility

About

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.

Full 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.

Enrollment

11 patients

Sex

All

Ages

6+ years old

Volunteers

No Healthy Volunteers

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