HYPERION
Research type
Research Study
Full 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
IRAS ID
1011072
Contact name
Wilma de Wit
Contact email
Sponsor organisation
Laboratoires THEA
Research summary
Leber congenital amaurosis 10 (LCA10) is a severe inherited degenerative disease affecting the retina. It is caused by the c.2991+1655A>G (p.Cys998X) mutation. This mutation stops the CEP290 gene in the retina from working properly and causes insufficient production of an important protein. This leads to defective light-sensitive cells and loss of eyesight often in early childhood.
There are currently no approved therapies for the treatment of LCA10 due to this gene mutation. The Sponsor of this study is developing a new therapy with a medication called “sepofarsen”. Sepofarsen is designed to overcome this genetic defect to restore the important CEP290 protein and light-sensitive cell function. It is aimed at stopping or possibly reversing some effects of LCA10.
During the study, information will be collected to determine if sepofarsen works to stop or reverse some effects of LCA10, and if it is safe to use. This study involves comparing the effects of sepofarsen injections in one eye with the effects of placebo injections in the other eye of each participant.
In the first year all participants will have sepofarsen injected in one eye and placebo will be injected in the other eye. Which eye receives what will be randomly assigned, like flipping a coin.
In the second year, the eye that received sepofarsen in the first year will continue receiving sepofarsen. The eye that got placebo will be randomly assigned to either continue with placebo or start sepofarsen. This means that in the second year, there is a 50% chance that both eyes will receive sepofarsen, and a 50% chance that one eye will get sepofarsen while the other gets the placebo.Patients with LCA aged 6 years or older may be eligible to take part. Participants will need to attend the study site at least 16 days over a period of approximately 27 months (2 years and 3 months).
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
24/NE/0213
Date of REC Opinion
3 Dec 2024
REC opinion
Further Information Favourable Opinion