Recently, Genecradle Therapeutics' GC301 adeno-associated virus (AAV) injection for the treatment of late-onset Pompe disease (LOPD) has successfully completed the first intravenous dosing in a gene therapy clinical study ("A Single-Arm, Multi-Center, Open-Label, Intravenous Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC301 Adeno-Associated Virus Injection in Patients with Late-Onset Pompe Disease," Approval Number: CXSL2300013). This marks the first subject dosing in a registered clinical trial for AAV gene therapy for LOPD in China.
The gene therapy study for late-onset Pompe disease is being conducted at the First Medical Center of the General Hospital of the People's Liberation Army, with the principal investigator being Professor Yang Guang, the head of the pediatric department. Recruitment for LOPD subjects is still ongoing, primarily targeting patients with late-onset Pompe disease aged six and above at the time of enrollment. For more information, please click below to view.
Genecradle Therapeutics, guided by the core principle of "Originating from Needs, Benefiting Patients," actively responds to the national policy call to strengthen the research and development of drugs and treatments for rare diseases. Inspired by the CDE "Care Plan," we deepen our understanding of patient needs and apply this to drug research to better benefit patients.
We sincerely invite you to participate in the "Late-Onset Pompe Disease (LOPD) Patient Survey Questionnaire," and work together to promote the progress and development of gene therapy research for late-onset Pompe disease.
About Pompe Disease
Pompe disease, also known as Glycogen Storage Disease Type II, is a rare autosomal recessive genetic disorder caused by a defect in the gene encoding the lysosomal enzyme acid alpha-glucosidase (GAA). Mutations in the GAA gene lead to a deficiency or reduction in GAA enzyme activity, preventing the degradation of glycogen and causing its accumulation in the lysosomes of muscle cells. Pompe disease is divided into infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) based on the age of onset, affected organs, and the rate of disease progression. Infantile-onset mainly affects skeletal muscles and the heart, with rapid progression, and without effective treatment, often leads to death from heart and respiratory failure before the age of one; late-onset mainly affects the trunk muscles, proximal limb muscle groups, and respiratory muscles, with significant individual differences in the rate of disease progression, and respiratory failure is the main cause of death. Pompe disease poses a serious threat to patients' life and health and has been included in the first batch of rare diseases in China.
About GC301 Adeno-Associated Virus Injection
GC301 injection is an AAV gene therapy drug designed and developed by Genecradle Therapeutics for the treatment of Pompe disease. It adopts a one-time intravenous injection strategy for widespread systemic expression, aiming to directly compensate for the GAA gene deficiency in tissues such as the liver, heart, skeletal muscles, and central nervous system. In previous clinical trials conducted (IIT+IND), IOPD subjects successfully discontinued enzyme replacement therapy after gene therapy, with varying degrees of improvement in motor ability.