Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)

Launched by LABORATOIRES THEA · Mar 21, 2025

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ClinConnect Summary

The HYPERION clinical trial is studying a new treatment called Sepofarsen for people with a specific type of genetic eye disease known as Leber Congenital Amaurosis (LCA) Type 10. This condition can lead to severe vision loss or blindness due to a mutation in a gene called CEP290. The trial aims to see if Sepofarsen is safe and effective for improving vision in individuals with this genetic mutation. It will involve both adults and children aged 6 years and older.

To participate, individuals must have a confirmed diagnosis of LCA Type 10 and specific genetic testing results showing the right mutation. They should have some measurable vision, but it can be quite poor, and their vision must be similar in both eyes. Participants will be randomly assigned to receive either the treatment or a placebo (a dummy treatment) without knowing which one they have, helping researchers evaluate the true effects of Sepofarsen. It’s important to note that people with certain other eye conditions or previous treatments for their vision problems may not be eligible. This study is not yet recruiting participants, but it represents a hopeful step in finding new therapies for those affected by this challenging condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Confirmed clinical diagnosis of LCA10 and a molecular diagnosis of homozygosity or compound heterozygosity for the c.2991+1655A\>G mutation in CEP290.
• • 2. Adults: \>=18 years / Minors: 6 to \<18 years.
• • 3. 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.
• • 4. Symmetrical disease between the two eyes as defined by a BCVA (FrACT) within 0.2 logMAR at baseline.
• • 5. Detectable ONL in the macular area as determined by the CRC at Screening.
• Exclusion Criteria:
• • 1. Mutations in genes other than the CEP290 gene associated with other IRD diseases or syndromes.
• • 2. Presence of any ocular pathology in either eye that may make comparison of the eyes not feasible.
• • 3. 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).
• • 4. Presence of any clinically significant lens opacities/cataracts based on the AREDS lens grading scale.
• • 5. Any prior receipt of genetic or stem-cell therapy for ocular or non-ocular disease.