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) mutatio

Phase 2

Completed

• Conditions: Leber Congenital Amaurosis. Leber's Disease; 10052635

• Registration Number: NL-OMON55235
• Lead Sponsor: ProQR Therapeutics

Brief Summary

Trial is onging in other countries

Detailed Description

Not available

Study Timeline

• Study Completion: 2022-10-18
• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 3

Inclusion Criteria

1. Male or female child, <8 years of age at Screening
2. A clinical diagnosis of LCA and a molecular diagnosis of homozygosity or
compound heterozygosity for the c.2991+1655A>G mutation in the CEP290 gene,
based on genotyping analysis at Screening. Historic genotyping results from a
certified laboratory are acceptable with Sponsor approval.
3. BCVA equal to or better than Light Perception, and equal to or worse than
approximate Snellen equivalent 20/50 in the treatment eye.
4. Clear ocular media and adequate pupillary dilation to permit good quality
retinal imaging, as determined by the Investigator.

Exclusion Criteria

1. Presence of pathogenic mutations in genes associated with other recessive,
dominant or X-linked inherited retinal degenerative diseases or syndromes based
on genetic analysis.
2. Presence of any significant ocular or non-ocular disease/disorder (including
medication abnormalities) which may either 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.
3. 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.
4. 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
5. 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.
6. Any prior receipt of genetic or stem-cell therapy for ocular or
non-ocular disease.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>• Incidence and severity of ocular adverse events (AEs)<br /><br>• Incidence and severity of non-ocular AEs.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Change from baseline to Month 12 in:<br /><br>• BCVA<br /><br>• Retinal sensitivity measured by FST (white, red, and blue)</p><br>