Sepofarsen injections for LCA10 due to the CEP290 p.Cys998X mutation

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a double-masked, randomized, placebo-controlled paired-eye Phase 3 study in which one eye of each participant is randomized to receive sepofarsen and the other eye receives placebo during the first year. Treatment is given by intravitreal injection every six months, with the sepofarsen-treated eye continuing treatment in year two and the originally placebo-treated eye either continuing placebo or switching to sepofarsen. The trial enrolls participants aged 6 years and older with genetically confirmed homozygous or compound heterozygous CEP290 c.2991+1655A>G (p.Cys998X) mutations and detectable macular outer nuclear layer on OCT. Key outcomes include visual acuity and objective/functional vision measures comparing treated and control eyes.

Why it matters

Who can join: the full rules

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 (RNA or DNA therapy) or stem-cell therapy for ocular or non-ocular disease, including sepofarsen.

Where it's running

• UCSF Wayne and Gladys Valley Center for Vision
  San Francisco, California, United States Recruiting
• University of Miami - Bascom Palmer Eye Institute
  Miami, Florida, United States Recruiting
• University of Iowa
  Iowa City, Iowa, United States Recruiting
• University of Pennsylvania - Center for Advanced Retinal & Ocular Therapeutics
  Philadelphia, Pennsylvania, United States Recruiting
• Sydney Eye Hospital
  Sydney, New South Wales, Australia Recruiting
• Universitair Ziekenhuis Gent (UZ)
  Ghent, Belgium Recruiting

Study contacts

• Study coordinator: Sepul Bio Patient Advocacy Director
• Email: contact@sepulbio.com
• Phone: +31 617060791

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Registry for inherited retinal degenerative diseases

  This study is creating a registry for people with rare inherited eye diseases to help track their health and experiences over time, making it easier to understand these conditions and support research.

  Recruiting Foundation Fighting Blindness · Columbia, Maryland · NCT02435940

• ETHY-001 safety and activity in Thyroid Eye Disease (TED)

  This study tests ETHY-001 versus placebo to see if it is safe, tolerable, and shows activity in people with thyroid eye disease.

  Recruiting at 2 sites Phase 1 Ethyreal Bio, Inc. · Orland Park, Illinois and 2 other locations · NCT07885605

• Auto-aligning handheld OCT for adult and pediatric retinal imaging

  We will test a new handheld OCT device that automatically aligns to capture retinal images in healthy adults, adult eye patients, and children.

  Recruiting Duke University · Durham, North Carolina · NCT06841575

• Evaluating a stem cell treatment for geographic atrophy from dry age-related macular degeneration.

  This study is testing a new stem cell treatment for people with geographic atrophy from dry age-related macular degeneration to see if it can help improve their vision.

  Recruiting at 3 sites Phase 1/2 Eyestem Research Pvt. Ltd. · Jālna, Maharashtra and 2 other locations · NCT06394232

• Using stem cells to treat retinal and optic nerve damage

  This study is testing if using stem cells from your own bone marrow can help improve vision in people with serious eye damage from conditions like age-related macular degeneration and optic nerve problems.

  Recruiting at 4 sites MD Stem Cells · Westport, Connecticut and 3 other locations · NCT03011541

• Safety and tolerability of a single retina gene therapy for RDH12-related LCA

  This early-stage gene therapy test tries a one-time retinal injection of OPGx-RDH12 to see if it is safe and may help people with RDH12-related Leber congenital amaurosis.

  Recruiting Phase 1/2 Opus Genetics, Inc · Phoenix, Arizona and 3 other locations · NCT07681778

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.