Warm Congratulations to Lingyi (Hangzhou) Biotechnology Co., Ltd. on the Success of the Clinical Study of LY-M001 Injection in Adolescent Patients with Type 1 Gaucher Disease at Shanghai Children’s Medical Center

Recently, a prospective, single-center, open-label, single-arm clinical study evaluating the safety and efficacy of a single intravenous infusion of LY-M001 Injection in adolescent patients with Type 1 Gaucher disease was successfully conducted at Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, National Children’s Medical Center, and achieved positive therapeutic outcomes.

The study was initiated by Professor Wang Xiumin from the Department of Endocrinology, Genetics and Metabolism and the Clinical Research Ward as the principal investigator, with multidisciplinary participation from the Department of Endocrinology, Genetics and Metabolism, the Clinical Research Ward, the Department of Hematology and Oncology, the Department of Radiology, and other teams. In August this year, the medical team successfully administered the treatment to a 15-year-old adolescent patient with Type 1 Gaucher disease. This also represents the world’s first adolescent patient with Type 1 Gaucher disease to receive gene therapy.

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by variants in the glucocerebrosidase (GBA) gene. It is characterized by multisystem lipid accumulation, resulting in functional impairment of the hematologic system, liver, spleen, skeletal system, and nervous system, and corresponding clinical manifestations such as hepatosplenomegaly, anemia, thrombocytopenia, bone pain, skeletal lesions, and developmental delay, which may lead to lifelong disability or even death. Current major treatment approaches for Gaucher disease include enzyme replacement therapy, hematopoietic stem cell transplantation, substrate reduction therapy, and gene therapy. Gene therapy involves the infusion of a virus vector-based gene therapy product, which, after administration, can specifically transduce target organs and enable long-term expression of the GCase protein in those organs. The harmful glycolipid metabolites accumulated in various organs of patients with Gaucher disease are then degraded by GCase protein, thereby effectively treating the disease.

To date, the subject has completed eight weeks of close follow-up after treatment. The child is in good condition, with no obvious adverse reactions observed. The patient has discontinued costly enzyme replacement therapy, enzyme activity has returned to normal, and quality of life has significantly improved compared with baseline.

In February 2022, the Clinical Research Ward of Shanghai Children’s Medical Center was officially put into operation. Centered on patients, the ward focuses on cutting-edge clinical application exploration in pediatric rare diseases, aiming to break through bottlenecks in rare disease treatment and address the shortage of pediatric medicines in China. As the National Children’s Medical Center and Shanghai Clinical Research Center for Gene Therapy, the hospital has been actively committed to the development and application of domestic innovative drugs and medical devices, especially clinical research related to gene therapy for rare diseases. Its first-in-human gene therapy program for aromatic L-amino acid decarboxylase deficiency has completed earlier-stage IIT research and entered the registered clinical stage. At present, multiple gene therapy programs for diseases including Type 1 Gaucher disease, Duchenne muscular dystrophy, MECP2 duplication syndrome, and acute myeloid leukemia have also been successfully launched.

Shanghai Children’s Medical Center’s completion of the world’s first gene therapy treatment in an adolescent patient with Type 1 Gaucher disease not only marks a major breakthrough in gene therapy technology, but also brings new hope and light to rare disease treatment, while demonstrating China’s strength and potential in medical innovation and interdisciplinary collaboration. LY-M001 Injection is an innovative gene therapy drug developed by Lingyi (Hangzhou) Biotechnology Co., Ltd. (“Lingyi Biotech”). PackGene Biotech is honored to have supported the advancement of Lingyi Biotech’s AAV gene therapy program by providing high-quality CMC services. Looking ahead, PackGene Biotech will continue to deepen its expertise in the field of gene therapy, provide one-stop CMC solutions for drug innovation, and help advance more high-quality programs.

About LY-M001 Injection

LY-M001 Injection is China’s first independently developed AAV gene therapy drug for Type 1 and Type 3 Gaucher disease, and is classified as a Class 1 innovative biological product for therapeutic use. Using recombinant adeno-associated virus (rAAV) as the vector, the product enables expression of the glucocerebrosidase required by patients after a single intravenous infusion. Lingyi Biotech has developed an improved glucocerebrosidase gene therapy vector with fully independent intellectual property rights, enabling long-term and stable in vivo expression and degradation of harmful glycolipid metabolites, thereby achieving the goal of long-term treatment of Gaucher disease.

About Lingyi Biotech

Founded in February 2021, Lingyi Biotech is a globally leading innovative drug development company focused on monogenic genetic diseases. The company has a world-class team for gene therapy discovery, research and development, and industrialization, and is committed to the development and commercialization of first-in-class gene therapy pipelines. Grounded in original innovation, the company focuses on disease areas with urgent clinical needs, including metabolic diseases, central nervous system disorders, and ophthalmic diseases. Starting from key technologies such as animal models of genetic diseases, Lingyi Biotech aims to provide patients with one-time solutions under the highest quality standards.

Lingyi Biotech’s investigational AAV gene therapy drug for Gaucher disease, LY-M001 Injection, received IND approvals from both the NMPA and the FDA in January 2024 and has officially entered a registered Phase I/II clinical trial. It has also been granted Orphan Drug Designation (ODD) by the FDA. To date, LY-M001 Injection has been administered to several adult and pediatric patients with Gaucher disease, and preliminary data have shown favorable safety and efficacy profiles.