Pompe Disease, also translated as Pompe disease, or Glycogen Storage Disease Type II (GSD II), is a rare metabolic storage disease that widely affects muscle tissue. It is mainly due to the lack of acid-acid-α-1,4-glucosidase (α-GAA) in the body, which prevents the glycogen in the human body from being converted into glucose monosaccharides, resulting in a large amount of glycogen accumulation. Since the decomposition and metabolism of glycogen occurs in the lysosomes of tissue cells throughout the body, Pompe disease is also a lysosomal storage disease with systemic involvement among glycogen storage diseases. Because skeletal muscle, myocardium, and liver glycogen metabolism occur more abundantly, clinically, Pompe disease patients have more significant damage to the liver, heart, and skeletal muscle. According to the age of onset and severity, Pompe disease can be divided into early-onset and late-onset. Individuals with early-onset Pompe disease, also known as infantile-onset Pompe disease (IOPD), have extremely low residual GAA enzyme activity and exhibit relatively serious symptoms such as dyspnea, systemic muscle weakness, and cardiopulmonary failure. Early-onset Pompe disease is a serious threat to the life of children with the disease, and there is a strong demand for clinical treatment that is not met by existing treatments.
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. In the researcher-initiated clinical study (IIT) conducted this year at the Seventh Medical Center of the General Hospital of the Chinese People's Liberation Army, GC301 injection showed good safety in the clinic, and the preliminary efficacy showed that the cardiac indicators of children were improved, muscle strength was increased, and the phenomenon of rapid breathing was significantly alleviated, and head control and limb motor function were significantly improved.
Currently, there is no drug for Pompe disease in China that has entered the clinical development stage. GC301 injection, as the first AAV gene therapy drug for Pompe disease in China, will be promoted to formal clinical trials. Patients and their families are kindly requested to pay attention to the follow-up research information.
About GeneCradle
Beijing GeneCradle Technology Co., Ltd. is a biotechnology platform company focusing on the innovative research and development of gene therapy drugs. It focuses on the research and development of gene therapy products in the fields of hereditary neuromuscular diseases, genetic metabolic diseases, lysosomal diseases and ophthalmic diseases mediated by AAV vector delivery technology. The GeneCradle team is committed to promoting China's rare disease gene drugs from basic to clinical and market. With the quality policy of "originating from demand, courageous innovation, dedicated to design, strict verification, sophisticated manufacturing, continuous improvement, and benefiting patients", the GeneCradle team is committed to turning "no drug to cure" into "one-time administration, long-term effectiveness" to benefit patients and their families. Through the research and development and clinical application of rare disease gene drugs, we can have a deeper understanding of life and health and transition to the treatment and rehabilitation of chronic diseases and other major diseases.