International Rare Disease Day was first initiated by the European Rare Diseases Organization in 2008 to raise public awareness of rare diseases and encourage society and governments to pay attention to and support the challenges faced by the rare disease community in order to promote the discovery and treatment of rare diseases. The festival is specially chosen on February 29, which occurs every four years, because this day is a special day that symbolizes the "rare" nature of rare diseases. Since 2009, the last day of February each year has been designated as International Rare Disease Day, and February 29, 2024 will be the 17th International Rare Disease Day.

At present, there are more than 7,000 known rare diseases in the world. About 80% of rare diseases are related to genetics, and about 50% of rare diseases start in childhood. In my country, although the prevalence of rare diseases is low, due to the large population base, the number of rare disease patients in my country is huge, with about 20 million rare disease patients and more than 200,000 new rare disease patients born each year. In order to strengthen the management of rare diseases, improve the diagnosis and treatment of rare diseases, and safeguard the health rights and interests of rare disease patients, the National Health Commission and other departments jointly issued the "First Batch of Rare Diseases Catalog" and "Second Batch of Rare Diseases Catalog" in May 2018 and September 2023, respectively, which included spinal muscular atrophy, glycogen storage disease (type I, type II) and a total of 207 rare diseases. As of the end of September 2023, the China Rare Disease Diagnosis and Treatment Service Information System established in my country has registered about 780,000 rare disease cases. Although the total number of patients with rare diseases cannot be underestimated, the prevalence of individual rare diseases is low and research resources are limited. The vast majority of rare diseases face the difficulties of difficult diagnosis and treatment, or even no cure.

In recent years, with the rapid development of gene therapy-related technologies and the correlation between most rare diseases and genetic inheritance, more and more related companies and medical institutions have been developing gene therapy drugs for rare diseases. As one of the earliest gene therapy drug research and development companies in China that focuses on the treatment and rehabilitation of rare diseases and focuses on the research of its key delivery technology AAV vector, the GeneCradle team has developed more than a dozen gene therapy drugs for rare diseases, of which 3 drugs have entered the clinical stage and have made gratifying progress:

● GC101 adeno-associated virus injection for spinal muscular atrophyGC101 is the first gene therapy drug in China to use an intramyelin administration strategy, which improves motor function and enhances the quality of life of patients by expressing SMN1 protein in the central nervous system and systemic tissues and organs. Currently, GC101 is undergoing registration clinical trials in multiple centers, including the Seventh Medical Center of the General Hospital of the Chinese People's Liberation Army, the First Hospital of Peking University, the Shengjing Hospital Affiliated to China Medical University, the Peking University Women's and Children's Hospital, the Wuhan Children's Hospital, and the Jinan Children's Hospital, and has taken the lead in entering the Phase II clinical trial stage. Clinical observations have shown that patients have shown good drug safety and significant improvements in various indicators after treatment.

● GC301 adeno-associated virus injection for Pompe disease,Through the recombinant AAV viral vector formulation expressing GAA enzyme, it corrects peripheral organ involvement and reduces the burden on the central nervous system of Pompe disease, which has therapeutic advantages that existing enzyme replacement therapy does not have. It is the world's first AAV-delivered gene therapy drug for the treatment of infantile Pompe disease. Currently, GC301 is being registered in multiple centers such as Peking Union Medical College Hospital, the First Medical Center of the General Hospital of the Chinese People's Liberation Army, the Children's Hospital Affiliated to Zhejiang University School of Medicine, and the First Affiliated Hospital of Zhengzhou University. Clinical trials.

● GC304 adeno-associated virus injection for hypertriglyceridemia,By expressing a recombinant AAV viral vector preparation that expresses lipoprotein lipase (LPL), a key enzyme in the human body that hydrolyzes plasma triglyceride-rich lipoproteins, it achieves long-term and complete degradation of triglycerides in the circulating blood. It has the unique therapeutic advantage of changing the lifelong medication situation for patients with lipid metabolism disorders, and is currently advancing into Phase I clinical trials.

GeneCradle's mission is to promote the development of rare disease drugs in China from research to clinical trials and the market. It always adheres to the concept and policy of "originating from needs and benefiting patients", explores the development of gene therapy drugs for rare diseases, and promotes clinical trials of gene therapy drugs for rare diseases, in order to help more rare disease patients bloom the colorful colors of life earlier.

On the canvas of life, even the tiniest stroke has the power to bring out the colors. Rare diseases, seemingly hidden in the shadows, actually carry a unique brilliance. Every patient with a rare disease is like a unique beam of light, using courage and tenacity to paint their own colors on the canvas of life. These beams of light also illuminate our path to develop gene therapy drugs for rare diseases, injecting energy into our continuous exploration and progress. We will use gene therapy to solve more disease problems and benefit human health!

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.