Rare Disease Day was initiated by EURORDIS, the European Organization for Rare Diseases, in 2008 as a global campaign. Originally set on February 29th—a date that occurs only once every four years—to symbolize the "rarity" of these conditions, it has since been observed annually on the last day of February. The goal is to raise awareness about rare diseases, advocate for policy support and research investment, and improve the quality of life for patients. February 28th, 2025, marks the 18th Rare Disease Day.

In the vast constellation of medical science, the treatment of rare diseases was once a dimly shining star. However, with scientific progress and the rapid development of biomedicine, the dawn's light has begun to illuminate this area that so urgently needs attention. The theme for the 2025 Rare Disease Day is: "More than you can imagine", translated into Chinese as "不止罕见". This theme emphasizes that patients with rare diseases are not merely "rare" existences; they are individuals who shine brightly in the river of life, with the same right to flourish and boundless potential. It calls on all sectors of society to look beyond the diseases themselves and recognize their impact on patients' lives and the importance of social support. Globally, approximately 300 million people are affected by rare diseases, and in China, this number exceeds 20 million. Behind these staggering figures are countless families' tears, resilience, and deep longing for effective treatments.

Since its inception, Genecradle Therapeutics has been committed to the belief that "gene therapy will solve more disease challenges and benefit human health." Focusing on the innovation and development of cutting-edge AAV gene therapy technologies, the company has started with tackling the medical challenges of rare diseases, with the vision of transforming "untreatable" conditions into "one-time, permanent" cures. This has driven the transition of Chinese gene drugs from basic research to clinical and market applications. Today, with unwavering belief and relentless effort, Genecradle Therapeutics has overcome numerous obstacles and achieved remarkable results with its independently developed AAV gene therapy drugs:

• Spinal Muscular Atrophy (SMA Types 1, 2, and 3) Gene Therapy Drug - GC101 Adeno-Associated Virus Injection: GC101 Injection is the first domestically developed AAV gene therapy product for intrathecal administration to treat SMA, covering Types 1, 2, and 3 SMA. Clinical trial data have shown positive and significant therapeutic effects in Type 2 SMA subjects treated with GC101 Injection, with several subjects achieving breakthroughs in motor milestones. Compared to existing treatments, GC101 Injection's potential for "one-time treatment, long-term efficacy" demonstrates a differentiated advantage. In December 2024, GC101 was recognized as a Breakthrough Therapy by the Center for Drug Evaluation (CDE) of the National Medical Products Administration.

 • Pompe Disease (IOPD and LOPD) Gene Therapy Drug - GC301 Adeno-Associated Virus Injection: As the world's first AAV-delivered drug for infantile Pompe disease, GC301 has demonstrated good safety and remarkable efficacy in clinical trials. Several IOPD subjects have completed 52 weeks of follow-up, showing stable conditions and continuous improvement. Additionally, GC301 Injection has successfully initiated the first subject dosing in a registered clinical trial for late-onset Pompe disease in China. Through a one-time intravenous injection, GC301 provides widespread compensation for GAA enzyme gene defects across key affected tissues, including the liver, heart, skeletal muscles, and central nervous system. It offers new hope for patients with infantile and late-onset Pompe disease and is poised to become a significant milestone in Pompe disease treatment.

• LPLD Hypertriglyceridemia with Recurrent Acute Pancreatitis Gene Therapy Drug - GC304 Adeno-Associated Virus Injection: GC304 Injection has the potential to efficiently degrade triglycerides in the bloodstream through the optimized LPLS447X gene, offering a new gene therapy for the prevention and/or treatment of severe hypertriglyceridemia. It is currently undergoing a Phase I clinical trial at Peking Union Medical College Hospital, with ongoing recruitment of participants.

 • Wilson Disease (WD) Gene Therapy Drug - GC310 Adeno-Associated Virus Injection: Preclinical studies have shown good drug safety and significant efficacy. After a single treatment, the target tissue can express the biologically functional miniATP7B copper ion transporter protein, restoring copper ion metabolism and increasing ceruloplasmin levels. This has the potential to significantly improve the status of the WD community in the long term. Recently, GC310 received tacit approval for registration of clinical trials from the National Medical Products Administration.

• Duchenne Muscular Dystrophy (DMD) Gene Therapy: Genecradle Therapeutics recently signed a strategic cooperation agreement with Byongen Therapeutics to jointly develop the next-generation DMD gene therapy. By combining Genecradle's profound experience in AAV gene drug development with Byongen's unique strengths in novel AAV capsid development, the collaboration aims to enhance therapeutic efficacy and safety while reducing the dosage required, bringing new hope to DMD treatment.

To date, Genecradle Therapeutics has successfully advanced four independently developed gene therapies into the registration clinical trial stage, all of which are Class 1 new drugs and advanced therapy medicinal products. These four gene drugs target seven indications, shining like seven brilliant stars in the night sky of rare disease areas such as neuromuscular diseases and metabolic disorders, bringing hope to countless patients struggling in the dark. Several more heavyweight research pipelines are also in the pipeline, heralding significant future breakthroughs in disease treatment. These milestone achievements demonstrate Genecradle Therapeutics' outstanding innovation capabilities in gene therapy and contribute valuable Chinese wisdom and solutions to global rare disease treatment. Looking ahead, the Genecradle team will continue to pursue scientific innovation with passion and conviction, drawing a blueprint for health and life. At the same time, we sincerely call on all sectors of society to jointly focus on the full life cycle needs of rare disease patients, working together to build a harmonious and inclusive health environment where every life is respected and cared for. Genecradle Therapeutics is willing to join hands with global peers to create more miracles for human health, allowing every life to bloom with radiant splendor.