Study to evaluate QR-110 in subjects with Leber’s Congenital Amaurosis (LCA) due to the p.Cys998X mutation in the CEP290 Gene

An Open-Label, Single Arm, Multiple Dose, Dose Escalation Study to Evaluate the Safety and Tolerability of QR-110 in Subjects with Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2017-000813-22-BE

Enrollment

Registered

2017-04-13

Start date

2017-06-19

Completion date

Unknown

Last updated

2019-12-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene MedDRA version: 19.1 Level: PT Classification code 10070667 Term: Leber's congenital amaurosis System Organ Class: 10010331 - Congenital, familial and genetic disorders

Interventions

Product Name: QR-110, Solution for Intravitreal Injection Pharmaceutical Form: Solution for injection

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. 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. 2. 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. 3. Detectable outer nuclear layer (ONL) in the area of the macula. 4. An ERG result consistent with LCA. 5. Clear ocular media and adequate pupillary dilation to permit good quality retinal imaging Are the trial subjects under 18? yes Number of subjects for this age range: 6 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 1

Exclusion criteria

Exclusion criteria: 1. Syndromic disease 2. Pregnant or breast-feeding female 3. Any clinically significant cardiac disease or defect. 4. One or more coagulation parameters outside of the normal range. 5. Any ocular disease or condition that could compromise treatment safety, visual acuity or interfere with assessment of efficacy and safety. 6.Prior receipt of intraocular surgery or IVT injection within 3 months prior to study start or planned intraocular surgery or procedure during the course of the study 7. 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. 8. Any prior receipt of genetic therapy for LCA

Design outcomes

Primary

Measure	Time frame
Secondary Objective: The secondary objectives of the study are: • to evaluate the pharmacokinetics of QR-110 • to evaluate the efficacy of QR-110 ;Primary end point(s): Frequency and severity of ocular AEs in the treatment and contralateral eyes ;Timepoint(s) of evaluation of this end point: All 21 visits;Main Objective: The primary objective of the study is to evaluate the safety and tolerability of QR-110 administered via IVT injection in subjects with LCA due to the CEP290 p.Cys998X mutation	—

Measure

Time frame

Secondary Objective: The secondary objectives of the study are: • to evaluate the pharmacokinetics of QR-110 • to evaluate the efficacy of QR-110 ;Primary end point(s): Frequency and severity of ocular AEs in the treatment and contralateral eyes ;Timepoint(s) of evaluation of this end point: All 21 visits;Main Objective: The primary objective of the study is to evaluate the safety and tolerability of QR-110 administered via IVT injection in subjects with LCA due to the CEP290 p.Cys998X mutation

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Secondary

Measure	Time frame
Secondary end point(s): Frequency and severity of non-ocular AEs Changes in ophthalmic examination findings Change in BCVA Changes in infrared imaging Changes in OCT findings Changes in safety parameters, including vital sign measurements, physical examination findings, ECG, and laboratory parameters Characterize the PK profile of QR-110 in serum Change in light sensitivity by FST Change in cone mediated light sensitivity by FST Change in rod mediated light sensitivity by FST Change in PLR amplitude Change in PLR latency Change in melanopsin-mediated PLR Change in cone-mediated PLR end Change in rod-mediated PLR Change in mobility course score ;Timepoint(s) of evaluation of this end point: Frequency and severity of non-ocular AEs – All 21 visits Changes in ophthalmic examination findings – All 21 visits Change in BCVA – Visits 1, 2, 6, 7, 8, 11, 12, 13, 16, 17, 20, 21 Changes in infrared imaging and OCT findings - Visits 1, 6, 7, 8, 11, 12, 13, 16, 17, 20, 21 Changes in safety parameters – Throughout the 21 visits Characterize the PK profile of QR-110 in serum – Visits 2, 3, 4, 6, 7, 8, 10, 13, 17 Changes measured by FST, by PLR and in mobility course score – Visits 1, 2, 6, 7, 8, 13, 17, 21	—

Measure

Time frame

Secondary end point(s): Frequency and severity of non-ocular AEs Changes in ophthalmic examination findings Change in BCVA Changes in infrared imaging Changes in OCT findings Changes in safety parameters, including vital sign measurements, physical examination findings, ECG, and laboratory parameters Characterize the PK profile of QR-110 in serum Change in light sensitivity by FST Change in cone mediated light sensitivity by FST Change in rod mediated light sensitivity by FST Change in PLR amplitude Change in PLR latency Change in melanopsin-mediated PLR Change in cone-mediated PLR end Change in rod-mediated PLR Change in mobility course score ;Timepoint(s) of evaluation of this end point: Frequency and severity of non-ocular AEs – All 21 visits Changes in ophthalmic examination findings – All 21 visits Change in BCVA – Visits 1, 2, 6, 7, 8, 11, 12, 13, 16, 17, 20, 21 Changes in infrared imaging and OCT findings - Visits 1, 6, 7, 8, 11, 12, 13, 16, 17, 20, 21 Changes in safety parameters – Throughout the 21 visits Characterize the PK profile of QR-110 in serum – Visits 2, 3, 4, 6, 7, 8, 10, 13, 17 Changes measured by FST, by PLR and in mobility course score – Visits 1, 2, 6, 7, 8, 13, 17, 21

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Countries

Belgium, United States

Contacts

Public ContactClinical Trial Manager

ProQR Therapeutics

clinical@proqr.com+31881667000

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026