Ongoing Clinical Trials for Leber’s Congenital Amaurosis

There is currently 1 ongoing clinical trial investigating potential treatments for Leber’s congenital amaurosis (also known as LCA), a rare genetic eye disorder that causes severe vision impairment from birth or early infancy. This trial is testing an investigational medication called Sepofarsen, which targets a specific genetic mutation in the CEP290 gene. The study is being conducted across multiple European countries and aims to evaluate whether this treatment can improve or stabilize vision in affected individuals.

Clinical trial locations

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

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

This trial is investigating Sepofarsen, also known as QR-110, for individuals with a specific form of the condition caused by a mutation in the CEP290 gene. Sepofarsen is an antisense oligonucleotide, a type of RNA-based therapy designed to correct the genetic defect at the molecular level. The medication is administered as an injection directly into the eye over a 12-month period.

Main inclusion criteria:

• Participants must be at least 6 years old. Adults aged 18 and older must provide their own consent, while children aged 6 to under 18 need parental or guardian permission.
• A confirmed diagnosis of Leber congenital amaurosis type 10 with the specific CEP290 gene mutation, verified by genetic testing.
• Vision measured at a certain level of impairment, ranging from 20/50 to counting fingers or hand motion. Individuals with only light perception may be eligible if there is evidence of better vision in the past.
• Both eyes must have similar disease progression, and the retina must show a detectable outer nuclear layer in the central area.
• Clear eye media and sufficient pupil dilation to allow high-quality retinal imaging.
• Women of childbearing potential and fertile men must use highly effective birth control methods during the study.

Main exclusion criteria:

• Any other eye disease besides Leber congenital amaurosis.
• Eye surgery within the past 6 months.
• Current participation in another clinical trial.
• History of severe allergic reactions to medications.
• Pregnancy or breastfeeding.
• Uncontrolled diabetes or high blood pressure.
• Any serious illness that could interfere with the study or inability to follow study procedures and attend all visits.

Focus and goals: The trial aims to evaluate whether Sepofarsen can improve vision or slow down vision loss in people with this specific genetic mutation. Researchers will measure changes in visual acuity using the Freiburg Acuity and Contrast Test, assess sensitivity to light and contrast, and gather feedback from participants about their perception of vision changes. The study is conducted in a double-masked manner, meaning neither participants nor researchers know who receives the actual treatment versus placebo, ensuring unbiased results.

What to expect: After enrolling and confirming eligibility, participants are randomly assigned to receive either Sepofarsen or a placebo. The treatment phase involves regular eye injections over 12 months, with frequent check-ups to monitor vision and eye health. Throughout the study, participants will undergo various vision tests and assessments. At the end of the 12-month period, a final evaluation will determine the treatment’s effectiveness and any changes in vision.

Summary

Currently, there is one active clinical trial for Leber’s congenital amaurosis, focusing on a targeted genetic approach for individuals with a specific CEP290 gene mutation. The trial is being conducted across four European countries: Belgium, France, Germany, and the Netherlands, providing access to patients in multiple locations. The investigational drug, Sepofarsen, represents an innovative RNA-based therapy approach that aims to address the underlying genetic cause of vision loss rather than just managing symptoms. This 12-month study will provide important information about the safety and potential effectiveness of this treatment approach for this rare genetic eye disorder.