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SEPOFARSEN

Clinical trials are studying SEPOFARSEN in people with Leber congenital amaurosis, a rare inherited eye disease. The trials aim to evaluate how well it works, how safe it is, and how well it is tolerated, especially in subjects with a specific CEP290 gene mutation.

Table of contents

Trial overview

The available trial is a Phase 3 study of SEPOFARSEN in people with Leber congenital amaurosis (LCA), a rare inherited eye disease.[1]

The study is designed to evaluate efficacy, safety, and tolerability after 12 months of treatment.[1]

The trial is authorised and includes subjects with LCA due to the c.2991+1655A>G (p.Cys998X) mutation in the CEP290 gene.[1]

Study design and treatment groups

This is a double-masked, randomized, placebo-controlled, paired eye study.[1]

Double-masked means that neither the participants nor the study team know which treatment is being given, which helps reduce bias in the results.[1]

Randomized means the treatment is assigned by chance, and placebo-controlled means one comparison group receives placebo instead of the active study drug.[1]

The intervention list includes placebo and two SEPOFARSEN dose groups: 40 Aµg microgram(s) and 160 Aµg microgram(s), both for intravitreal use, which means treatment given into the eye.[1]

Who can participate

The study is for subjects with LCA caused by the specific c.2991+1655A>G (p.Cys998X) mutation in the CEP290 gene.[1]

No other eligibility details are provided in the trial data, so the source only confirms this genetic and disease-based target population.[1]

What is being measured

The primary outcome is the change from baseline in best-corrected visual acuity (BCVA) between treatment eyes and placebo control eyes at 12 months.[1]

BCVA is a standard measure of how well a person can see with the best possible glasses or contact lenses.[1]

This vision outcome is measured using the Freiburg Acuity and Contrast Test (FrACT), a test used to assess visual acuity and contrast performance.[1]

Trial status and size

The trial status is Authorised.[1]

The planned enrollment is 35 participants, which means the study is designed to include 35 subjects.[1]

Because this is a single listed study, the current trial data show one main clinical trial for SEPOFARSEN in this condition.[1]

Trial ID Phase Condition studied Status Enrollment
2024-518378-14-00 Phase 3 Leber congenital amaurosis (LCA) due to the c.2991+1655A>G (p.Cys998X) mutation in the CEP290 gene Authorised 35

FAQ

  • What condition is being studied in SEPOFARSEN trials? The trial is studying Leber congenital amaurosis (LCA), a rare inherited eye disease. It focuses on people with LCA caused by a specific CEP290 gene mutation.
  • Who can take part in the SEPOFARSEN trial? The study is for subjects with LCA due to the c.2991+1655A>G (p.Cys998X) mutation in the CEP290 gene. The trial data do not give more detailed participation rules.
  • What phase is the SEPOFARSEN trial? The trial is in Phase 3. This means it is a later-stage study that looks at how well the treatment works and checks safety in a larger group.
  • What is the main goal of the trial? The main goal is to evaluate efficacy after 12 months of treatment. The study also looks at safety and tolerability.
  • What outcome is the trial measuring? The main outcome is the change in best-corrected visual acuity, or BCVA, measured with the Freiburg Acuity and Contrast Test. The study compares treatment eyes with placebo control eyes at 12 months.

Ongoing Clinical Trials on SEPOFARSEN

  • Study on the Effectiveness and Safety of Sepofarsen for Patients with Leber Congenital Amaurosis Due to a Specific Genetic Mutation

    Recruiting

    3 1
    Investigated diseases:
    Investigated drugs:
    Belgium France Germany The Netherlands Spain

Glossary

  • Leber congenital amaurosis (LCA): A rare inherited eye disease that causes severe vision problems, usually from early life.
  • CEP290 gene: A gene linked to the form of LCA being studied in this trial.
  • Mutation: A change in a gene. In this trial, the study focuses on one specific change in the CEP290 gene.
  • c.2991+1655A>G (p.Cys998X): The exact gene change being studied in people with LCA in this trial.
  • Phase 3: A late stage of clinical research that tests how well a treatment works and continues to check safety.
  • Interventional study: A study where researchers give a treatment and measure the results.
  • Double-masked: A study design where neither the participants nor the researchers know who gets the active treatment or placebo.
  • Randomized: Participants are assigned by chance to different study groups.
  • Placebo: A comparison treatment with no active study drug.
  • Paired eye study: A study design where one eye may receive the study treatment and the other eye may receive placebo, so the eyes can be compared.
  • Best-corrected visual acuity (BCVA): A measure of how well a person can see with the best possible glasses or contact lenses.
  • Freiburg Acuity and Contrast Test (FrACT): A vision test used to measure visual acuity and contrast sensitivity.

References

  1. https://clinicaltrials.gov/study/2024-518378-14-00