Leber Congenital Amaurosis (LCA) is a rare inherited retinal degeneration. It appears at birth or in the first few months of life with loss of vision, which varies from person to person and can be quite severe (with little to no light perception). In some cases, blindness can occur in infancy.
Forms of Leber Congenital Amaurosis (LCA) are caused by a mutation in a number of genes that are important for retinal function; Leber congenital amaurosis 10 (LCA10) is a CEP290-related retinal degenerative disorder and it’s considered the most common cause of inherited childhood blindness, with an incidence of two to three per 100,000 live births worldwide.. Editas Medicine Inc. has developed a gene-editing experimental medicine, called EDIT-101, which has been administered for the first time worldwide to paediatric patients.
The patients are enrolled in the BRILLIANCE clinical trial which is designed to test the safety of the medicine for the treatment of the Leber congenital amaurosis 10 (LCA10) type. The company noted that its BRILLIANCE Phase 1/2 clinical trial (NCT03872479) of EDIT-101 for the treatment of LCA10 is designed to assess the safety, tolerability, and efficacy of EDIT-101 in patients with this disorder. You can learn more here about clinical trials.
James C. Mullen, Chairman, President, and CEO of Editas Medicine, said: “Currently, there are no approved treatments for LCA10, and we look forward to sharing future updates from the BRILLIANCE trial, including sharing additional clinical data, later this year.”
EDIT-101 is administered via a subretinal injection to reach and deliver the gene-editing machinery directly to photoreceptor cells where it will correct the ‘defective’ gene. EDIT-101 has been granted Rare Paediatric Disease and Orphan Drug designations from the U.S. Food and Drug Administration (FDA) and Orphan Designation from the European Medicines Agency (EMA).
Additionally, the company is expanding enrolment in one or more of the previously completed adult cohorts to explore dose-response and support the establishment of registrational trial endpoints, which are anticipated by year-end.