On February 28,2025,Genecradle Therapeutics'independently developed gene therapy drug for Pompe disease,GC301 Adeno-Associated Virus Injection,received Orphan Drug Designation(ODD)from the U.S.Food and Drug Administration(FDA).
Image Source:Screenshot from the FDA Orphan Drug Certification Database
The FDA's Orphan Drug Designation(ODD)is a significant policy introduced to encourage the development of drugs for rare diseases.Since the Orphan Drug Act was enacted in 1983,this policy has successfully leveraged industry resources towards rare disease research through a"package of incentives"including tax credits,special research grants,seven years of market exclusivity,and priority review pathways.To date,it has facilitated the approval of over 600 innovative drugs,transforming the treatment landscape for approximately 5%of the world's rare diseases(out of over 7,000 known conditions)from"untreatable"to"treatable."
The receipt of ODD for GC301 signifies international recognition of Genecradle Therapeutics'innovative R&D capabilities.It not only showcases China's strength in rare disease research but also bridges the gap for over 20 million rare disease patients in China to access top-tier international therapies.Additionally,it provides a valuable example and reference for Chinese advanced therapeutic drugs to enter the global stage and compete internationally.As a pioneer in gene therapy,Genecradle Therapeutics will continue to advance the clinical and commercialization process of GC301 and actively explore international cooperation to provide more accessible and effective treatment options for Pompe disease patients worldwide.
About GC301 Adeno-Associated Virus Injection
GC301 Adeno-Associated Virus Injection is a gene therapy drug for Pompe disease developed by Genecradle Therapeutics using AAV delivery technology.It compensates for GAA enzyme gene defects systemically through a one-time intravenous injection,targeting key affected tissues such as the liver,heart,skeletal muscles,and central nervous system.As the world's first AAV gene therapy for infantile-onset Pompe disease(IOPD),GC301 Injection completed its first subject dosing in an Investigator-Initiated Trial(IIT)in 2022.Its registration clinical trial is currently being conducted as a multicenter study at authoritative institutions including Peking Union Medical College Hospital and the General Hospital of the People's Liberation Army.Multiple IOPD subjects have completed 52 weeks of follow-up,with data showing consistent stability in safety and efficacy.In the treatment of late-onset Pompe disease(LOPD),GC301 gene therapy has also made breakthrough progress,completing the first subject dosing in a registered clinical trial at the General Hospital of the People's Liberation Army.Clinical data indicate that a single dose of GC301 can achieve long-term GAA enzyme expression,significantly improving patients'motor function and quality of life,offering a revolutionary treatment option that addresses the root cause of Pompe disease.
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.