Leber congenital amaurosis (LCA) is a rare genetic eye disorder that primarily affects the retina, which is the light-sensitive tissue at the back of the eye. It is a congenital condition, meaning it is present from birth, and causes severe vision impairment or blindness. It results from genetic mutations that disrupt the function of the retina’s photoreceptor cells. Common symptoms, such as nystagmus (roving eye movements) and photophobia (sensitivity to light), typically emerge in infancy. LCA encompasses various subtypes, each linked to specific genetic mutations and different levels of visual impairment.
Presently, there is no treatments, but new therapies are being studied for LCA and are providing hope for individuals affected by this condition. Supportive services, like low-vision aids and mobility training, can assist individuals in adapting to their visual challenges.
Sepofarsen: Investigational Treatment for Leber Congenital Amaurosis 10
Sepofarsen is an experimental mRNA therapy designed to improve visual function for patients with Leber congenital amaurosis 10. Sepofarsen targets a specific genetic variant (c.2991+1655A>G) in the CEP290 gene. This variant stops the cell from producing an essential protein needed for the cells in the retina to function. By addressing this variant, sepofarsen aims to restore cell function in the retina. Sepofarsen is in Phase 3 clinical development.
The HYPERION Study
This is a double-masked, randomized, placebo-controlled, paired-eye study in which one eye of each subject will serve as a control.
At the start of the study the two eyes of each subject will be randomized such that one eye receives sepofarsen and the other eye receives placebo for the first year. In the second year, for all subjects, the eye that was randomized to receive sepofarsen will continue to receive sepofarsen. For the eye that was randomized to placebo in the first year, treatment in the second year will be allocated, as follows: 50% of the eyes will continue to receive placebo, and 50% of the eyes will receive sepofarsen.
Sepofarsen and placebo will be administered via intravitreal injection every 6 months.
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. |
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