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NCT06891443 | RECRUITING | Leber Congenital Amaurosis 10

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

Thea laboratories

Brief 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.

Condition or disease

Leber Congenital Amaurosis 10

Blindness

Leber Congenital Amaurosis

Sensation Disorders

Vision Disorder

Neurological Manifestations

Eye Diseases, Hereditary

Eye Diseases

Eye Disorders Congenital

Retinal Disease

Intervention/treatment

sepofarsen

Placebo IVT

Phase

PHASE3

Detailed Description:

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.

Study Type : INTERVENTIONAL
Estimated Enrollment : 32 participants
Masking : QUADRUPLE
Primary Purpose : TREATMENT
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
Actual Study Start Date : 2025-08
Estimated Primary Completion Date : 2027-11
Estimated Study Completion Date : 2028-10

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 6 Years
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
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.
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)

Location Details

NCT06891443

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How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

RECRUITING

United States, Minnesota

University of Minnesota Medical School

Minneapolis, Minnesota, United States, 55455

RECRUITING

United States, Pennsylvania

University of Pennsylvania - Center for Advanced Retinal & Ocular Therapeutics

Philadelphia, Pennsylvania, United States, 19104

RECRUITING

United Kingdom,

Moorfields Eye Hospital NHS Foundation Trust

London, United Kingdom, EC1V 2PD