Every April 15th is "International Pompe Disease Day." Established in 2014, this day aims to raise awareness of Pompe disease among all sectors of society and promote the development and application of research related to the disease. Pompe disease, a "glycogen catastrophe" caused by genetic defects, has left countless families struggling with misdiagnoses and exorbitant treatment costs. From the heart failure of infantile patients to the muscle weakness that invades adult patients, the fragility and resilience of life are intertwined here. But just as stars shine in the dark night, scientific exploration and humanistic care have never ceased—calls for early diagnosis and treatment, breakthroughs in advanced therapies, every step makes "rare" no longer synonymous with "hopeless."

In this race against time, Genecradle Therapeutics, with the belief that "gene therapy will solve more disease challenges and benefit human health," has submitted an innovative answer: GC301 Adeno-Associated Virus Injection. As the world's first AAV gene therapy for infantile Pompe disease (IOPD), it provides systemic compensation for GAA enzyme through a single intravenous injection, covering key tissues such as the heart, skeletal muscles, liver, and central nervous system, intervening in disease progression from the root. From the first IIT study in 2022 to the launch of the IND registration clinical trial in 2023, GC301 Injection has been conducting Pompe disease gene therapy clinical trials in several authoritative research hospitals across the country, including Peking Union Medical College Hospital, the General Hospital of the People's Liberation Army, Zhejiang University School of Medicine Affiliated Children's Hospital, and Beijing Children's Hospital. The three clinical studies of GC301 Injection for the treatment of IOPD cover both treatment-naive and ERT-experienced IOPD children. The results show that after a single treatment with GC301 Injection, the children have long-term stable expression of GAA enzyme in their bodies, can discontinue the lifelong ERT they originally needed, and achieve long-term survival. Meanwhile, the children's motor abilities continue to improve, and their quality of life has significantly increased, demonstrating the huge potential of GC301 drug in long-term efficacy. In the field of late-onset Pompe disease (LOPD), the launch of the first LOPD gene therapy IND registration clinical trial in China marks a new era for the full-cycle treatment of Pompe disease. On February 28, 2025, GC301 Injection received FDA Orphan Drug Designation (ODD), which is not only a sign of international recognition of Genecradle Therapeutics' innovative R&D capabilities but also a strong boost for the global Pompe disease community.

Genecradle's exploration has always been rooted in the most urgent needs of patients. From the laboratory to the clinic, from IOPD to LOPD, every step carries the expectations of countless families, and every breakthrough embodies the Genecradle team's belief in "life first." It is this initial mission of "originating from needs and benefiting patients" that has driven GC301 Injection from concept to reality and brought the vision of "one-time treatment, long-term benefits" into reality.

International Pompe Disease Day is not just a day of commemoration but also a call to action. As gene therapy lights up hope and policies and technology build safeguards together, we will ultimately witness that every "rare" life deserves to be fully protected and every solitary persistence will eventually welcome the dawn. May the light of science illuminate more corners in the future, turning "rare" into "curable" and achieving "coexistence" and "new life."

About Pompe Disease

Pompe disease, also known as Glycogen Storage Disease Type II, is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA). Variations in the GAA gene lead to a deficiency or reduction in GAA enzyme activity, preventing the breakdown of glycogen, which then accumulates in the lysosomes of muscle cells. Based on age of onset, affected organs, and disease progression, Pompe disease is divided into infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). IOPD primarily affects skeletal and cardiac muscles, with rapid disease progression, often leading to death from heart or respiratory failure within the first year of life without effective treatment. LOPD mainly affects trunk muscles, proximal limb muscles, and respiratory muscles, with significant individual differences in disease progression speed, where respiratory failure is the primary cause of death. Pompe disease poses a severe threat to patients' health and has been included in China's first list of rare diseases.