Breakthrough in Pediatric Care: Shanghai Children's Medical Center Achieves First-Ever Gene Therapy for Type I Gaucher Disease in Adolescents
Recently, a "prospective, single-center, open, single-arm clinical study to evaluate the safety and efficacy of a single intravenous infusion of LY-M001 injection in adolescents with Type I Gaucher disease" has been successfully conducted at the National Center for Children's Health and Shanghai Children's Medical Center affiliated with Shanghai Jiao Tong University School of Medicine, achieving therapeutic effects.
This project was initiated by Professor Wang Xiaomin from the Department of Endocrinology and Metabolic Genetics, Clinical Research Ward, and involved a multidisciplinary team from the Department of Endocrinology and Metabolic Genetics, Clinical Research Ward, Hematology and Oncology Department, Radiology Department, and others. In August of this year, the medical team successfully completed the drug treatment for a 15-year-old adolescent with Type I Gaucher disease. This is also the world's first adolescent with Type I Gaucher disease to receive gene therapy.
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucocerebrosidase (GBA) gene, characterized by lipid deposition in multiple systems, with affected blood, liver, spleen, bones, and nervous system functions leading to corresponding clinical manifestations, such as hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and skeletal lesions, delayed development, and potential lifelong disability or even death. Current treatment methods for Gaucher disease include enzyme replacement therapy, hematopoietic stem cell transplantation, substrate reduction therapy, and gene therapy. Gene therapy involves the infusion of gene therapy products carried by viruses, which can specifically transduce target organs and express GCase protein over the long term in these organs. The harmful glycolipid metabolic products accumulated in the organs of Gaucher disease patients will be degraded by GCase protein, thereby effectively treating Gaucher disease.
In February 2022, the Clinical Research Ward at Shanghai Children's Medical Center was officially launched, focusing on rare pediatric diseases and conducting cutting-edge clinical applications centered around patients. It aims to break through the bottlenecks in rare disease treatment and solve the "bottleneck" issue of drug shortages for children in China. As a National Center for Children's Health and a Clinical Research Center for Gene Therapy in Shanghai, the hospital is actively committed to the development and application of domestically produced innovative drugs and devices, especially clinical research related to gene therapy for rare diseases. The world's first gene therapy project for aromatic L-amino acid decarboxylase deficiency, which was previously used in humans, has completed the preliminary Investigational New Therapy (IIT) research and entered the registration clinical phase. Currently, several gene therapy projects targeting diseases such as Type I Gaucher, Duchenne muscular dystrophy, MECP2 duplication syndrome, and acute myeloid leukemia have all been successfully initiated.
About LY-M001 Injection
LY-M001 Injection is the first independently developed AAV gene therapy drug in China, specifically targeting Types I and III Gaucher disease, and is classified as a Class 1 innovative biological product for therapeutic use. This product uses recombinant adeno-associated virus (rAAV) as a vector, which can express the glucocerebrosidase enzyme needed by patients after a single intravenous infusion. Lingyi Biotech has developed a modified glucocerebrosidase gene therapy vector with full independent intellectual property rights, which can stably express and degrade harmful glycolipid metabolic products in the body for a long period, aiming to achieve long-term treatment of Gaucher disease.
About Lingyi Biotech
Lingyi Biotech, established in February 2021, is a globally leading company in the development of innovative drugs for monogenic inherited diseases. The company has a world-class team for gene therapy discovery, research and development, and industrialization, committed to the research and development and industrialization of First-In-Class gene therapy pipelines. Based on original innovation, the company focuses on disease areas urgently needed in clinics, such as metabolism, central nervous system, and ophthalmology, starting from key technologies such as animal models of genetic diseases, to provide one-time solutions for patients with the highest quality standards. Lingyi Biotech's Gaucher disease AAV gene therapy drug, LY-M001 Injection, obtained IND clinical trial approval from NMPA and FDA in January 2024 and has officially launched registered clinical Phase I/II trials. It has also been granted Orphan Drug Designation (ODD) by the FDA. Currently, LY-M001 Injection has completed dosing for several adult and pediatric Gaucher disease patients, with preliminary data showing good performance in terms of safety and efficacy.
