PackGene Biotech Supports Patient Family-Driven World’s First GM2 AB Variant Gene Therapy Clinical Trial

KUNMING, China – May 15, 2024 – In a landmark medical achievement, a 9-year-old patient, identified as Anan, has become the World’s first person to receive gene therapy for GM2 gangliosidosis AB variant (GM2 disease). The treatment was administered at Kunming Hope Health Hospital, marking a pivotal moment in the fight against this devastating rare neurological disorder.

The successful administration of the gene therapy, an rAAV vector carrying a modified gene, culminates a two-year journey spearheaded by Anan’s parents, who have no medical background. Facing a lack of available treatments, the family took the extraordinary step of forming their own company to drive the research and development process in what is being termed a “Patient-Initiated Trial” (PIT) model.

“Most people believe rare disease patients must wait to be saved, but when you’re in a desperate situation with no help, you can take the initiative to advance drug R&D and treatment yourself,” said Anan’s mother, Yang Tao.

The LY-M001 gene therapy, developed with Canadian medical geneticist Dr. Jagdeep S Walia at Gencorrex, is designed to deliver a functional GM2A gene to the brain through a minimally invasive intracerebral injection using an Ommaya reservoir. This aims to correct the genetic mutation that causes GM2 gangliosidosis and provides hope for a “one-time, lifelong” treatment.

A key component of the project’s success was the support from PackGene Biotech, a CDMO specializing in gene therapy manufacturing. PackGene was responsible for the production of the GMP-grade rAAV vector, an essential step for human clinical use. Anan’s mother noted that PackGene provided these high-quality CMC services at cost, accelerating the project at a critical stage.

Wu Kun, head of the Seven-Colored Iris Foundation for rare diseases, highlighted the significance of the family’s journey. “Yang Tao’s path is an extremely courageous and valuable exploration,” Wu Kun said. “Her efforts not only bring hope to her own child but could also provide a reproducible roadmap for millions of rare disease patients in China who have no treatment options.”

The path to this first-in-human trial was fraught with challenges, including securing funding, navigating regulatory and ethical hurdles, and conducting successful animal studies in both mice and monkeys. The hospital’s Ethics Committee approved the global-first trial after a series of intensive reviews.

The successful treatment of Anan marks the beginning of a new chapter, not just for this family but for the entire rare disease community, showcasing a new model of patient-driven innovation in the face of medical despair.