Type 5q spinal muscular atrophy ("5q SMA") is a hereditary neuromuscular disease caused by functional defects due to mutations in the survival motor neuron gene 1 ("SMN1 gene"), with an incidence rate of 1/8000 to 1/11000. It is the number one genetic disease killer causing infant and child deaths and has been included in the "First List of Rare Diseases" jointly issued by the National Health Commission and other five departments. In the SMA disease classification, children with type 1 SMA are the most serious. If they do not receive timely and effective treatment intervention, the median survival period is 13.6 months, and most do not exceed 24 months; most patients with type 2 SMA will lose the ability to sit alone and become paralyzed during adolescence, and patients often die from complications such as respiratory failure.
The gene drug GC101 injection is a recombinant adeno-associated virus vector type 9 (AAV9) carrying a normal SMN1 gene expression unit. It is administered once by intrathecal injection to express the SMN1 gene in motor neuron cells, thereby improving the function of affected cells such as motor neurons. With respiratory and motor rehabilitation training, it can improve the respiratory function and motor ability of SMA patients.
The main research centers for the IND clinical trial of GC101 injection will be located in the Seventh Medical Center of PLA General Hospital and Peking University First Hospital respectively. The clinical trial for type 1 SMA will be led by Professor Feng Zhichun of the Department of Pediatrics of the Seventh Medical Center of PLA General Hospital as the principal investigator, and the neurodevelopmental and respiratory monitoring departments of the Department of Pediatrics will be led by the laboratory, pharmacology, rehabilitation, nutrition and other professional departments of the joint center to form a multidisciplinary model (MDT); the clinical trial for type 2 SMA will be led by Professor Xiong Hui of the Department of Pediatric Neurology of Peking University First Hospital as the principal investigator, and the relevant departments of Peking University Hospital will form a multidisciplinary model. At the same time, several domestic hospitals will be selected as sub-centers to participate in these two clinical trials.
GeneCradle will work with clinicians to promote the clinical trials and therapeutic drugs of GC101 injection. We believe that with the joint efforts of the R&D team, the production team, and the medical/clinical team, and with the active cooperation and trust of the majority of patients, it will bring hope of improvement and cure to SMA patients and make Chinese gene drugs attract worldwide attention.
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. Its mission is to promote China's rare disease gene drugs from basic to clinical and market, and is committed to turning "incurable" into "once and for all" cures, benefiting patients and their families. Through the research and development and clinical application of rare disease gene drugs, we have a deeper understanding of life and health, and transition to the treatment and rehabilitation of chronic diseases and other major diseases.