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

a study on Leber Congenital Amaurosis 10 Blindness Leber Congenital Amaurosis Sensation Disorders Vision Disorder Neurological Manifestations Retinal Disease

Summary

Eligibility
for people ages 6 years and up (full criteria)
Location
at UCSF
Dates
study started
study ends around

Description

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.

Official Title

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

Details

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.

Keywords

Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders, Vision Disorder, Neurological Manifestations, Eye Diseases, Hereditary, Eye Diseases, Eye Disorders Congenital, Retinal Disease, LCA10, p.Cys998X, Antisense oligonucleotides, RNA therapy, QR-110, sepofarsen, CEP290, Leber's Congenital Amaurosis, c.2991+1655A>G, Vision Disorders, Neurologic Manifestations, Hereditary Eye Diseases, Eye Abnormalities, Retinal Diseases, Type 4 Meckel Syndrome, Optic Atrophy, Hereditary, Leber, Mixed - Fellow Eye - Month 12 to Month 24, Mixed - Fellow Eye - up to Month 12

Eligibility

You can join if…

Open to people ages 6 years and up

  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.

You CAN'T join if...

  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.

Locations

  • UCSF Wayne and Gladys Valley Center for Vision accepting new patients
    San Francisco 5391959 California 5332921 94158 United States
  • University of Alberta accepting new patients
    Edmonton 5946768 Alberta 5883102 T6G 2C8 Canada

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Laboratoires Thea
ID
NCT06891443
Phase
Phase 3 research study
Study Type
Interventional
Participants
Expecting 32 study participants
Last Updated