NCT03140969

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
11

participants targeted

Target at below P25 for phase_1

Timeline
Completed

Started Oct 2017

Typical duration for phase_1

Geographic Reach
2 countries

3 active sites

Status
completed

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

May 1, 2017

Completed
3 days until next milestone

First Posted

Study publicly available on registry

May 4, 2017

Completed
6 months until next milestone

Study Start

First participant enrolled

October 16, 2017

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 2, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 2, 2019

Completed
3.2 years until next milestone

Results Posted

Study results publicly available

December 27, 2022

Completed
Last Updated

October 15, 2024

Status Verified

October 1, 2024

Enrollment Period

2 years

First QC Date

May 1, 2017

Results QC Date

November 10, 2022

Last Update Submit

October 3, 2024

Conditions

Leber's Congenital Amaurosis

Keywords

CEP290p.Cys998Xc.2991+1655A>GRNA therapyAntisense oligonucleotideLeber's congenital amaurosis

Outcome Measures

Primary Outcomes (1)

  • Frequency and Severity of Ocular Adverse Events in the Treatment and Contralateral Eyes

    1 year

Secondary Outcomes (4)

  • 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

  • Change in Full-field Stimulus Test (FST)

    1 year

Study Arms (1)

QR-110

EXPERIMENTAL

Administered every 3 months

Drug: QR-110

Interventions

QR-110DRUG

RNA antisense oligonucleotide for intravitreal injection

Also known as: Sepofarsen
QR-110

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

University of Iowa

Iowa City, Iowa, 52242, United States

Location

Scheie Eye Institute, University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Ghent University Hospital and Ghent University

Ghent, B-9000, Belgium

Location

Related Publications (4)

  • Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. Nat Med. 2022 May;28(5):1014-1021. doi: 10.1038/s41591-022-01755-w. Epub 2022 Apr 4.

    PMID: 35379979DERIVED

  • Cideciyan AV, Jacobson SG, Ho AC, Garafalo AV, Roman AJ, Sumaroka A, Krishnan AK, Swider M, Schwartz MR, Girach A. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report. Nat Med. 2021 May;27(5):785-789. doi: 10.1038/s41591-021-01297-7. Epub 2021 Apr 1.

    PMID: 33795869DERIVED

  • Miah KM, Hyde SC, Gill DR. Emerging gene therapies for cystic fibrosis. Expert Rev Respir Med. 2019 Aug;13(8):709-725. doi: 10.1080/17476348.2019.1634547. Epub 2019 Jun 27.

    PMID: 31215818DERIVED

  • Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. Nat Med. 2019 Feb;25(2):225-228. doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17.

    PMID: 30559420DERIVED

MeSH Terms

Conditions

Optic Atrophy, Hereditary, LeberMeckel Syndrome, Type 4

Condition Hierarchy (Ancestors)

Optic Atrophies, HereditaryOptic AtrophyOptic Nerve DiseasesCranial Nerve DiseasesNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesEye Diseases, HereditaryEye DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMitochondrial DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Results Point of Contact

Title
Zuhal Butuner - Chief Medical Officer
Organization
Sepul Bio
contact@sepulbio.com
(905) 599 7887

Study Officials

  • Sepul Bio Chief Medical Officer

    Sepul Bio

    STUDY DIRECTOR

Publication Agreements

PI is Sponsor Employee
No
Restriction Type
OTHER
Restrictive Agreement
Yes

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SEQUENTIAL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 1, 2017

First Posted

May 4, 2017

Study Start

October 16, 2017

Primary Completion

October 2, 2019

Study Completion

October 2, 2019

Last Updated

October 15, 2024

Results First Posted

December 27, 2022

Record last verified: 2024-10

Data Sharing

IPD Sharing
Will not share

Locations

BE(1)US(2)