Jinlan Gene's AAV9-Based Gene Therapy GC301 for Infantile-Onset Pompe Disease Published in The New England Journal of Medicine

Recently,Professor Feng Zhichun's Team from the Pediatrics Department of the General Hospital of the People's Liberation Army of ChinaUnitedBeijing Genecradle Therapeutics Co., Ltd.Unit in "The New England Journal of Medicine"（NEJM）Published a clinical research achievement, reporting onRecombinant Adeno-Associated Virus Type 9（AAV9）Vector Carrying Coding for Human Acidic α-Glucosidase（GAA）Preliminary Safety and Efficacy of Genecradle's Gene Therapy GC301 in Four Infantile-Onset Pompe Disease Patients, bringing new hope for the treatment of infantile Pompe disease.

In the study, four patients with infantile Pompe disease received a single intravenous injection of GC301.（1.2×10¹⁴ vector genomes/kgOne of the patients withdrew from the study and subsequently passed away. The remaining three patients showed improvements in cardiac condition and motor function during the 52-week observation period, with positive changes observed in psychomotor development, achieving some motor developmental milestones. Throughout the observation period,NotDetection of anti-GAA antibodies in any patient。

Psychomotor and Cardiac Function Assessment in Four Infantile-Onset Pompe Disease Patients Treated with GC301 Injections

Psychomotor and Cardiac Function Assessment in Four Infantile Pompe Disease Patients Receiving GC301 Injections

Pompe disease is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding GAA, leading to a lack or significant reduction of GAA activity. This results in the accumulation of glycogen in lysosomes and cytoplasm due to its inability to be broken down, subsequently causing progressive multi-system damage primarily affecting skeletal and cardiac muscles. Patients often die from respiratory failure due to respiratory muscle involvement, making it a severe and fatal metabolic myopathy.

Based on the age of onset and cardiac involvement, Pompe disease can be divided intoInfantile and Late-OnsetTwo types. Patients with infantile-onset Pompe disease typically develop symptoms within the first year of life, and the condition progresses rapidly. If left untreated, they often die around the age of one due to heart failure and respiratory failure.

Currently, the main method used for treating Pompe disease is enzyme replacement therapy.（ERT）, but this therapy has many limitations, such as the need for lifelong administration, high costs, and an inability to effectively penetrate the blood-brain barrier, making it difficult to improve central nervous system symptoms. The efficacy also varies significantly among different patients. Therefore, developing a more effective treatment is urgently needed.

Despite the small sample size in this study, it is necessary to conduct a larger-scale evaluation of GC301 and perform long-term monitoring of its safety and durability. However, the research results published in the NEJM undoubtedly open up a new path for the treatment of infantile Pompe disease. AsGC301 Injection, the world's first AAV gene therapy for infantile Pompe disease, completed the first dosing in an IIT study in 2022. Its registrational clinical trial has been initiated as a multicenter study at several authoritative institutions, including Peking Union Medical College Hospital and PLA General Hospital.

In addition, in the field of late-onset Pompe disease treatment, GC301 has completed the dosing of participants in China's first registered clinical trial at the PLA General Hospital. Clinical data shows that a single dose of GC301 can achieve long-term expression of the GAA enzyme, significantly improving patients' motor function and quality of life, providing a revolutionary treatment option for the Pompe disease community by intervening at the root cause. In February this year, the therapy received orphan drug designation from the FDA.（ODD）。

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