"Together We Are Strong", this powerful English slogan was first proposed by the International Pompe Disease Association (IPA) in 2014, and April 15th of each year is designated as International Pompe Disease Day (IPD). IPD aims to strengthen the attention of all sectors of society to Pompe disease, promote the development and application of disease-related research, and enable more patients to receive timely diagnosis and treatment. Today, we usher in the 11th "International Pompe Disease" Day.

As the whole society pays more and more attention to rare diseases, a series of policies encouraging the innovative development of new drugs for rare diseases, accelerating approval and listing, and clinical use have been introduced. With the development and progress of technology, major breakthroughs have been made in the development of domestic gene therapy drugs. The gene therapy drug "GC301 adeno-associated virus injection" independently developed by GeneCradle for the treatment of Pompe disease uses recombinant AAV as a vector to carry the GAA gene expression sequence, and adopts a one-time intravenous injection strategy for widespread systemic expression, in order to directly compensate for GAA enzyme gene defects in tissues such as the liver, myocardium, skeletal muscle, and central nervous system. GC301 adeno-associated virus injection has obtained two clinical trial licenses from the Center for Drug Evaluation of the National Medical Products Administration:

GC301 injection is the first AAV gene therapy drug for infantile Pompe disease approved for formal clinical trials in the world. One registered clinical trial (registration number CXSL2200480) and two investigator-initiated clinical studies (IIT studies) have been conducted.

GC301 injection for the treatment of infantile Pompe disease has achieved multiple sports milestones

The registered clinical trial has been initiated at Peking Union Medical College Hospital, Children's Hospital Affiliated to Zhejiang Medical University, the First Medical Center of PLA General Hospital and the First Affiliated Hospital of Zhengzhou University. Currently, three IOPD patients aged 0-6 months have received a one-time intravenous injection of GC301 injection. The first subject completed a 270-day follow-up after administration. In the IIT study of GC301 injection for the treatment of IOPD patients aged 0-6 months conducted by the Seventh Medical Center of PLA General Hospital, several IOPD patients completed a one-year follow-up observation after administration. In the IIT study of GC301 injection for the treatment of IOPD patients aged 1-6 years conducted by the First Medical Center of PLA General Hospital, the first subject is about to complete a one-year follow-up observation after administration. The current observation data show that after a one-time intravenous injection of GC301 injection, all IOPD patients have achieved enzyme replacement therapy discontinuation and are in a stable state. The motor abilities of the young patients have all improved to varying degrees compared with before gene therapy, and have achieved multiple new motor milestones.

The registration clinical trial of GC301 for the treatment of infantile Pompe disease expands the scope of subject recruitment

Peking Union Medical College Hospital is the lead unit of the clinical trial of GC301 injection for the treatment of infantile Pompe disease. The new plan has recently been approved by the Ethics Committee of Peking Union Medical College Hospital, expanding the patient recruitment age to 2 years old.

The single-arm, multicenter, open, intravenous Phase I/II clinical trial evaluating the safety and efficacy of GC301 adeno-associated virus injection in the treatment of infantile Pompe disease has officially started recruiting subjects. Please scan the QR code below to obtain more information about the enrollment.
Inclusion criteria 1. Age <2 years old at enrollment, regardless of gender; 2. Clear diagnosis of infantile Pompe disease; 3. Guardians can understand and are willing to comply with the requirements and procedures of the study protocol, voluntarily participate and sign the informed consent form.

The contact information of each research center is summarized as follows:

The registration clinical trial of GC301 for the treatment of late-onset Pompe disease will soon start recruiting subjects

On February 29, 2024, the registration clinical trial of GC301 adeno-associated virus injection, a gene therapy drug independently developed by Beijing GeneCradle Technology Co., Ltd. for the treatment of late-onset Pompe disease (acceptance number CXSL2300013), was successfully approved by the Ethics Committee at the First Medical Center of the General Hospital of the People's Liberation Army of China. The registration clinical trial is about to be launched. The research unit will recruit late-onset Pompe disease subjects from the public in the near future. Please pay attention to the subsequent information release.

GC301 adeno-associated virus injection is an innovative gene therapy drug for the treatment of Pompe disease. With a single administration, it is expected to be effective for a long time. It not only ignites new hope for Pompe disease patients, but also lays the foundation for the application of gene therapy in the treatment of more rare and even common diseases. GeneCradle focuses on the development of gene therapy drugs mediated by AAV vector delivery technology. By promoting the development and clinical application of gene drugs for rare diseases, it explores gene therapy pathways for more diseases and benefits human health.

About Pompe Disease

Pompe disease, also known as glycogen storage disease type II, is a rare autosomal recessive genetic disease caused by a defect in the gene encoding intralysosomal acid α-glucosidase (GAA). GAA gene mutations lead to a lack or reduction in GAA enzyme activity, which prevents glycogen from being degraded and accumulates in the lysosomes of muscle cells. According to the age of onset, the affected organs, and the rate of disease progression, it is divided into infantile Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The infantile type mainly affects skeletal muscle and myocardium, and the disease progresses rapidly. Without effective treatment, patients often die of heart failure and respiratory failure within 1 year of age; the late-onset type mainly affects the trunk muscles, proximal limb muscles, and respiratory muscles. There are large individual differences in the rate of disease progression, and respiratory failure is the main cause of death. Pompe disease seriously threatens the life and health of patients and has been included in the first batch of rare disease catalogs in my country.

About GeneCradle

Beijing GeneCradle Technology Co., Ltd. is a national high-tech enterprise with the development of gene therapy drugs mediated by AAV vector delivery technology as its core business. Its mission is to promote China's rare disease gene drugs from basic to clinical and market, benefiting patients and families. The company focuses on the development of gene therapy drugs in the fields of hereditary neuromuscular diseases, genetic metabolic diseases, lysosomal diseases and ophthalmic diseases. By promoting the development and clinical application of rare disease gene drugs, it has a deeper understanding of life and health, and has transitioned gene therapy technologies and products from rare diseases to the treatment and rehabilitation of chronic diseases and other major diseases.