An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene. (BRIGHTEN)
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ClinicalTrials.gov Identifier: NCT04855045 |
Recruitment Status :
Recruiting
First Posted : April 22, 2021
Last Update Posted : March 25, 2022
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Leber Congenital Amaurosis 10 Blindness Leber Congenital Amaurosis Vision Disorders Sensation Disorders Neurologic Manifestations Eye Diseases Eye Disorders Congenital Retinal Disease Retinal Degeneration Retinal Dystrophies | Drug: sepofarsen | Phase 2 Phase 3 |
This is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8 years of age) with LCA10 due to the c.2991+1655A>G mutation. The study consists of two parts: an open-label dose escalation part, followed by a double-masked randomized part.
In the open label part; subjects will be assigned to one of 3 planned dose groups using a staggered dose escalation design. After at least 1 patient is dosed in each group; the Data Monitoring Committee (DMC) will review at least 4 weeks of safety data post dosing; and may recommend initiation of the next dose group. The DMC may recommend initiation of the double-masked randomized part of the study after completion of the last dose group in the dose escalation part of the study.
In the double-masked, randomized, controlled part of the study; subjects will be randomized to one of 2 planned dose groups .
Subjects will receive a unilateral IVT injection of sepofarsen on Day 1. Thereafter a 6-monthly dosing schedule is planned.
After each dosing subjects will be assessed for safety and tolerability at follow up visits.
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 15 participants |
Allocation: | Randomized |
Intervention Model: | Sequential Assignment |
Intervention Model Description: | The study consists of two parts: an open-label dose escalation part, followed by a double-masked randomized part. |
Masking: | Triple (Participant, Care Provider, Investigator) |
Primary Purpose: | Treatment |
Official Title: | An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation. |
Actual Study Start Date : | March 23, 2021 |
Estimated Primary Completion Date : | December 2023 |
Estimated Study Completion Date : | December 2023 |

Arm | Intervention/treatment |
---|---|
Experimental: Group 1 - open label |
Drug: sepofarsen
RNA antisense oligonucleotide for intravitreal injection
Other Name: QR-110 |
Experimental: Group 2 - open label |
Drug: sepofarsen
RNA antisense oligonucleotide for intravitreal injection
Other Name: QR-110 |
Experimental: Group 3: open label |
Drug: sepofarsen
RNA antisense oligonucleotide for intravitreal injection
Other Name: QR-110 |
Experimental: Group 4: double-masked, randomized to one of 2 dose cohorts |
Drug: sepofarsen
RNA antisense oligonucleotide for intravitreal injection
Other Name: QR-110 |
- Incidence and severity of ocular adverse events (AEs) [ Time Frame: 24 months ]Incidence and severity of ocular adverse events (AEs)
- Incidence and severity of non-ocular adverse events (AEs) [ Time Frame: 24 months ]Incidence and severity of non-ocular adverse events (AEs)
- Change from baseline to Month 12 in Best-corrected visual acuity (BCVA) [ Time Frame: 12 months ]Mean change in BCVA relative to baseline after 12 months of treatment
- Change from baseline to Month 12 in retinal sensitivity measured by Full-field stimulus testing (FST) [ Time Frame: 12 months ]Mean change in retinal sensitivity measured by FST relative to baseline after 12 months of treatment

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Ages Eligible for Study: | 0 Years to 7 Years (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Male or female child, <8 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, based on genotyping analysis at Screening. A historic genotyping report from a certified laboratory are acceptable with Sponsor approval.
- BCVA equal to or better than Logarithm of the Minimum Angle of Resolution (logMAR) + 4.0 (Light Perception), and equal to or worse than logMAR + 0.4 in the treatment eye.
- Detectable outer nuclear layer (ONL) in the area of the macula.
Exclusion Criteria:
- Presence of any significant ocular or non-ocular disease/disorder which may put the subject at risk because of participation in the trial' may influence the results of the trial, or the subject's ability to participate in the trial.
- Receipt within 1 month prior to Screening of any intraocular or periocular surgery (including refractive surgery), or an IVT injection or planned intraocular surgery or procedure during the course of the trial.
- Current treatment or treatment within the past 12 months with therapies known to influence the immune system (including but not limited to cytostatics, interferons, TNF-binding proteins, drugs acting on immunophilins, or antibodies with known impact on the immune system).
- Current treatment or treatment within the past 3 months or planned treatment with drugs known to be toxic to the lens, retina, or the optic nerve.
- Use of any investigational drug or device within 3 months or 5 half-lives of Day 1, whichever is longer, or plans to participate in another study of a drug or device during the trial period.
- Any prior receipt of genetic or stem-cell therapy for ocular or non-ocular disease.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04855045
Contact: ProQR Clinical Trials Manager | +31881667000 | info@proqr.com |
Belgium | |
Universitair Ziekenhuis Gent (UZ) | Recruiting |
Ghent, Belgium, 9000 | |
Contact: Bart Leroy bart.leroy@ugent.be | |
Principal Investigator: Bart Leroy | |
Brazil | |
INRET Clinica e Centro de Pesquisa / Santa Casa BH | Recruiting |
Belo Horizonte, Brazil | |
Contact: Fernanda Porto, Dr. 00553132264882 pesquisa@inret.com.br | |
Principal Investigator: Fernanda Porto, Dr. | |
Federal University of Sao Paulo - Hospital Sao Paulo | Recruiting |
São Paulo, Brazil | |
Contact: Juliana Sallum 00551155764848 ext 2265 juliana@pobox.com | |
Principal Investigator: Juliana Sallum, Dr. | |
Canada, Alberta | |
University of Alberta | Not yet recruiting |
Edmonton, Alberta, Canada | |
Contact: Rita Whitford 0017804928869 ovstrial@ualberta.ca | |
Principal Investigator: Mark Seamone, Dr. | |
Germany | |
Justus-Liebig Universität - Department of Ophthalmology | Recruiting |
Gießen, Germany, 35392 | |
Contact: Lyubomyr Lytvynchuk +49-641-985-43803 lyubomyr.Lytvynchuk@augen.med.uni-giessen.de | |
Principal Investigator: Lyubomyr Lytvynchuk | |
University of Tübingen - Institute for Ophthalmic Research | Not yet recruiting |
Tübingen, Germany, 72076 | |
Contact: Andrea Rindtorff +49 7071 29 87747 andrea.rindtorff@stz-eyetrial.de | |
Principal Investigator: Katarina Stingl, MD | |
Italy | |
Eye Clinic University of Campania Liugi Vanvitelli | Not yet recruiting |
Naples, Italy | |
Contact: Francesca Simonelli, Prof. 00393387630132 francesca.simonelli@unicampania.it | |
Principal Investigator: Francesca Simonelli, Prof. | |
Netherlands | |
Amsterdam University Medica Center - Locatie AMC | Recruiting |
Amsterdam, Netherlands, 1105 AZ | |
Contact: Monique Wezel +31 205668618 m.wezel@amsterdamumc.nl | |
Principal Investigator: Camiel Boon | |
United Kingdom | |
Moorfields Eye Hospital - NHS Foundation Trust | Not yet recruiting |
London, United Kingdom, EC1V 2PD | |
Contact: Flora Kakanou +44 0207 253 3411 ext 2109 flora.kakanou@nhs.net | |
Principal Investigator: Michel Michaelides |
Study Director: | ProQR Medical Monitor | ProQR Therapeutics |
Responsible Party: | ProQR Therapeutics |
ClinicalTrials.gov Identifier: | NCT04855045 |
Other Study ID Numbers: |
PQ-110-005 |
First Posted: | April 22, 2021 Key Record Dates |
Last Update Posted: | March 25, 2022 |
Last Verified: | March 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Product Manufactured in and Exported from the U.S.: | No |
LCA10 CEP290 p.Cys998X c.2991+1655A>G Leber Congenital Amaurosis Antisense oligonucleotide |
RNA therapy QR-110 sepofarsen pediatric children |
Blindness Neurologic Manifestations Vision Disorders Sensation Disorders Eye Diseases Retinal Diseases Retinal Degeneration Retinal Dystrophies |
Leber Congenital Amaurosis Eye Abnormalities Disease Pathologic Processes Nervous System Diseases Eye Diseases, Hereditary Congenital Abnormalities |