According to the information disclosure of the government service platform of the Ministry of Science and Technology, the "Single-arm, single-center clinical study on the safety, tolerability and efficacy of AAV9-SMN gene therapy in patients with type 3 spinal muscular atrophy" has obtained the administrative license for the collection of human genetic resources in China from the Ministry of Science and Technology. This clinical study on adult patients with type 3 SMA is hosted by the Neurology Center of Beijing Tiantan Hospital affiliated to Capital Medical University. The planned age of the subjects is between 18 and 25 years old, and the test drug is developed and provided by Beijing GeneCradle Technology Co., Ltd.
About Spinal Muscular Atrophy Type 3
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a defect in the function of the SMN protein. It is one of the autosomal recessive genetic diseases that causes infant mortality and has been included in the "First List of Rare Diseases" jointly issued by the National Health Commission and other five departments.
Clinically, SMA patients can be divided into five types based on the age of onset and loss of motor ability. Type 3 SMA patients gradually develop proximal muscle weakness in childhood, with the lower limbs being more severe than the upper limbs, and lose the ability to walk as the disease progresses, with visible fasciculations. In the late stage of the disease, scoliosis, joint deformities, and respiratory insufficiency appear. Although most type 3 SMA patients need the help of a wheelchair in late childhood and adulthood, they can usually achieve all or most of the motor development indicators. After interventional treatment, the patient's motor function can be restored to a certain extent and the quality of life can be improved.
About Beijing Tiantan Hospital
Beijing Tiantan Hospital affiliated to Capital Medical University was founded on August 23, 1956. It is a Class-A tertiary comprehensive hospital featuring neuroscience clusters, integrating medical care, teaching, research and prevention. As one of the first pilot units of research wards in Beijing, Beijing Tiantan Hospital has deeply explored the construction of research hospitals and research wards; Beijing Tiantan Hospital Neurology Center has accumulated a lot of experience in the design, organization and implementation of clinical research, established a team of experts in clinical research methodology and management, independently designed, organized and implemented 5 international large-scale clinical trials, and participated in the design of 2 international large-scale clinical trials.
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.