In short
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.
Key points
- SEPOFARSEN is being studied in a Phase 3 clinical trial for people with Leber congenital amaurosis, a rare inherited eye disease. The trial focuses on patients with a specific CEP290 gene mutation, c.2991+1655A>G (p.Cys998X). It is a double-masked, randomized, placebo-controlled, paired eye study. Researchers are looking at efficacy, safety, and tolerability over 12 months. The main outcome is change in best-corrected visual acuity, measured with the Freiburg Acuity and Contrast Test, comparing treatment eyes with placebo control eyes.
Trial overview
The available trial is a Phase 3 study of SEPOFARSEN in people with Leber congenital amaurosis (LCA), a rare inherited eye disease.
The study is designed to evaluate efficacy, safety, and tolerability after 12 months of treatment.
The trial is authorised and includes subjects with LCA due to the c.2991+1655A>G (p.Cys998X) mutation in the CEP290 gene.
Study design and treatment groups
This is a double-masked, randomized, placebo-controlled, paired eye study.
Double-masked means that neither the participants nor the study team know which treatment is being given, which helps reduce bias in the results.
Randomized means the treatment is assigned by chance, and placebo-controlled means one comparison group receives placebo instead of the active study drug.
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.
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.
No other eligibility details are provided in the trial data, so the source only confirms this genetic and disease-based target population.
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.
BCVA is a standard measure of how well a person can see with the best possible glasses or contact lenses.
This vision outcome is measured using the Freiburg Acuity and Contrast Test (FrACT), a test used to assess visual acuity and contrast performance.
Trial status and size
The trial status is Authorised.
The planned enrollment is 35 participants, which means the study is designed to include 35 subjects.
Because this is a single listed study, the current trial data show one main clinical trial for SEPOFARSEN in this condition.