Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
A Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 Gene
Laboratoires Thea
32 participants
Jun 4, 2025
INTERVENTIONAL
Conditions
Summary
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A\>G (p.Cys998X) mutation in the CEP290.
Eligibility
Inclusion Criteria5
- Confirmed clinical diagnosis of LCA10 and a molecular diagnosis of homozygosity or compound heterozygosity for the c.2991+1655A\>G mutation in CEP290.
- Adults: \>=18 years / Minors: 6 to \<18 years.
- BCVA (FrACT) equal to or worse than logMAR +0.4 (approximate Snellen equivalent 20/50) to +2.9 logMAR based on quantifiable, reliable FrACT. LP subjects with documented evidence of prior better vision eligible.
- Symmetrical disease between the two eyes as defined by a BCVA (FrACT) within 0.2 logMAR at baseline.
- Detectable ONL in the macular area as determined by the CRC at Screening.
Exclusion Criteria5
- Mutations in genes other than the CEP290 gene associated with other IRD diseases or syndromes.
- Presence of any ocular pathology in either eye that may make comparison of the eyes not feasible.
- Presence of unstable concurrent CME, or subject started on (or changed dose of) topical or systemic carbonic anhydrase inhibitor treatment in the 3 months prior to enrollment. CME is allowed if stable for 3 months (with or without treatment).
- Presence of any clinically significant lens opacities/cataracts based on the AREDS lens grading scale.
- Any prior receipt of genetic (RNA or DNA therapy) or stem-cell therapy for ocular or non-ocular disease, including sepofarsen.
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Interventions
RNA antisense oligonucleotide for intravitreal injection
Placebo with identical appearance to sepofarsen
Locations(14)
View Full Details on ClinicalTrials.gov
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NCT06891443