CANbridge Pharmaceuticals Inc. announced that the first patient has been dosed in the Phase 2 part of the ongoing CAN103 Phase 1/2 trial in treatment-naïve patients with Gaucher disease (GD) Types I and III in China. Bing Han MD, PhD, Chief Physician and Professor in the Department of Hematology at Peking Union Medical College Hospital in Beijing, China, is the principal investigator for this multi-site trial. Gaucher disease is caused by a genetic enzyme deficiency leading to an accumulation of the sphingolipid, glucocerebroside, primarily in macrophages, which results in hepatosplenomegaly, anemia, thrombocytopenia, bone pain and fractures, and death.

CAN103 is an enzyme replacement therapy (ERT) under development by CANbridge, as part of its rare disease partnership with WuXi Biologics, for the long-term treatment of adults and children with Gaucher disease Types I and III. Most patients with Gaucher disease in China do not have access to approved treatments due to cost barriers. Gaucher disease, one of the most common lysosomal storage disorders, is a rare inherited genetic metabolic disease caused by autosomal recessive mutations in the GBA gene located on chromosome 1 and affects both males and females equally.

Gaucher disease is a clinical spectrum that comprises perinatal-lethal, Type I (chronic non-neuronopathic), Type II (acute neuronopathic), and Type III (chronic neuronopathic) forms, with Types I and III surviving into adulthood. Gaucher disease is caused by a deficiency of glucocerebrosidase (acid b-glucosidase), an enzyme that helps break down a cellular membrane sphingolipid called glucocerebroside (glucosylceramide) within lysosomes. As a result, glucocerebroside accumulates primarily in cells of the monocyte-macrophage lineage (Gaucher cells) within certain organs, leading to splenomegaly, hepatomegaly, anemia, thrombocytopenia, bone pain and fractures, and in the most severe forms (perinatal-lethal, Types II and III), early neurological symptoms. For more than 25 years, recombinant human glucocerebrosidase enzyme replacement therapy (ERT) has been the standard of care for Gaucher disease, with clinical trial and real-world data demonstrating significant improvement in the major non-neurological signs and symptoms of disease and quality of life.

There were 3,000 patients with Gaucher disease in China in 2020, according to Frost & Sullivan.