17/03/2025
Jace Broadbin, a six-year-old from Connecticut, was born with Leber Congenital Amaurosis (LCA), a severe retinal dystrophy leading to blindness due to a defect in the AIPL1 gene. At two months old, he was diagnosed with this condition, which typically results in legal blindness from birth. In October 2020, Jace participated in a pioneering gene therapy trial at Moorfields Eye Hospital in London. The treatment involved injecting healthy copies of the defective AIPL1 gene into his retina through a minimally invasive procedure.
This intervention aimed to restore the function of photoreceptor cells in the retina. Within weeks post-surgery, Jace showed remarkable improvements, including responding to visual stimuli like television and phone screens. By six months, he could recognize and name his favorite cars from several meters away, significantly enhancing his interaction with the environment. This case, among others, represents a significant advancement in gene therapy for genetic eye conditions, offering hope for treating rare diseases.
Amazing work.. Thank you to ALL involved at Moorfields Eye Hospital in London, UK.. (info by Planet Warriors)