The Department of Pediatrics of the First Medical Center of PLA General Hospital is conducting a single-arm, multicenter, open-label, intravenous Phase I/II clinical study to evaluate the safety and efficacy of GC301 adeno-associated virus injection in the treatment of patients with late-onset Pompe disease. This study has been approved by the Ethics Committee of our hospital and the China National Medical Products Administration (Clinical Trial Notification No.: C2024-002-01).

This study is now planning to recruit children with late-onset Pompe disease aged 6 years and above. The project team members are all medical staff with rich clinical experience. If you meet the requirements, please contact the research center.

Main recruitment conditions

1. Age ≥ 6 years old at enrollment, regardless of gender;
2. Patients with onset of disease after 12 months of age;
3. Diagnosis based on: previous Pompe disease gene test results and GAA enzyme activity test results.
4. Guardians can understand and are willing to comply with the requirements and procedures of the research plan, voluntarily participate and sign the informed consent form.
Note: The above are some of the selection requirements. Whether all the inclusion criteria are met in the end will be confirmed by the project leader team of the project.

Contact information

Project leader: Yang Guang, director of the Department of Pediatrics, the First Medical Center of the General Hospital of the Chinese People's Liberation Army, chief physician, professor

Clinic time: Tuesday morning, Thursday morning

Clinic location: Pediatrics 1 Clinic, 2nd floor, Outpatient Building, the First Medical Center of the General Hospital of the Chinese People's Liberation Army

WeChat QR code for consultation:

Consultation phone number: 15100417342

Sources of the above content:PLA General Hospital Medical and Health Services (Official WeChat public account of PLA General Hospital (301 Hospital))

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 GC301 Adeno-Associated Virus Injection

GC301 injection is an AAV gene therapy drug designed and developed by GeneCradle for the treatment of Pompe disease. It adopts a one-time intravenous injection strategy for widespread systemic expression in order to directly compensate for the GAA enzyme gene defects in tissues such as the liver, myocardium, skeletal muscle, and central nervous system. Preclinical experimental results show that GC301 injection can widely transduce various tissues in the animal body and express active GAA protein after a single intravenous injection, improve skeletal muscle and myocardial damage, significantly increase mouse muscle strength, and significantly prolong the survival of model animals, achieving long-term and effective treatment of Pompe disease.

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.