RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Quick Facts

Study Start:2025-08
Study Completion:2028-10
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06891443

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 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. 2. Adults: \>=18 years / Minors: 6 to \<18 years.
  3. 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. 4. Symmetrical disease between the two eyes as defined by a BCVA (FrACT) within 0.2 logMAR at baseline.
  5. 5. Detectable ONL in the macular area as determined by the CRC at Screening.
  1. 1. Mutations in genes other than the CEP290 gene associated with other IRD diseases or syndromes.
  2. 2. Presence of any ocular pathology in either eye that may make comparison of the eyes not feasible.
  3. 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. 4. Presence of any clinically significant lens opacities/cataracts based on the AREDS lens grading scale.
  5. 5. Any prior receipt of genetic or stem-cell therapy for ocular or non-ocular disease.

Contacts and Locations

Study Contact

Sepul Bio Patient Advocacy Director
CONTACT
+31 617060791
contact@sepulbio.com
Sepul Bio Chief Medical Officer
CONTACT

Study Locations (Sites)

University of Minnesota Medical School
Minneapolis, Minnesota, 55455
United States
University of Pennsylvania - Center for Advanced Retinal & Ocular Therapeutics
Philadelphia, Pennsylvania, 19104
United States

Collaborators and Investigators

Sponsor: Laboratoires Thea

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-08
Study Completion Date2028-10

Study Record Updates

Study Start Date2025-08
Study Completion Date2028-10

Terms related to this study

Keywords Provided by Researchers

  • LCA10
  • p.Cys998X
  • Antisense oligonucleotides
  • RNA therapy
  • QR-110
  • sepofarsen
  • CEP290
  • Leber's Congenital Amaurosis
  • c.2991+1655A&gt;G

Additional Relevant MeSH Terms

  • Leber Congenital Amaurosis 10
  • Blindness
  • Leber Congenital Amaurosis
  • Sensation Disorders
  • Vision Disorder
  • Neurological Manifestations
  • Eye Diseases, Hereditary
  • Eye Diseases
  • Eye Disorders Congenital
  • Retinal Disease