Genzyme, a biotechnology company, has established itself as a leader in genetic medicine. Its mission centers on developing treatments for serious medical conditions, addressing significant unmet needs. Genzyme’s innovative research aims to positively impact the lives of individuals affected by these diseases.
Genzyme’s Focus in Genetic Diseases
Genzyme primarily directs its efforts toward rare, inherited genetic disorders, particularly lysosomal storage disorders (LSDs). These include Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis I (MPS I), and acid sphingomyelinase deficiency (ASMD). LSDs are genetic conditions where enzyme deficiencies lead to the buildup of undegraded material within lysosomes, the cellular recycling centers.
The unique challenges of rare genetic diseases include difficulties in diagnosis and a scarcity of effective treatments. Before the U.S. Orphan Drug Act of 1983, pharmaceutical companies had limited interest in developing drugs for these small patient populations. This legislation, along with similar laws in Japan and Europe, provided incentives like tax credits, extended marketing exclusivity, and research grants, making orphan drug development economically viable. Genzyme’s specialization in this area transformed the standard of care for these previously untreatable diseases.
Pioneering Enzyme Replacement Therapy
Enzyme Replacement Therapy (ERT) involves providing patients with a missing or deficient enzyme to correct metabolic imbalances. Genzyme was instrumental in developing and bringing ERT to patients, particularly for Gaucher disease. In 1991, the U.S. Food and Drug Administration (FDA) approved Genzyme’s ERT drug, Ceredase (alglucerase), for Gaucher disease type 1. This treatment replaced the deficient enzyme, glucocerebrosidase (GBA), preventing the accumulation of fatty chemicals in organs and blood.
The development of ERT for Gaucher disease began with Dr. Roscoe Brady’s 1964 discovery that an enzyme deficiency caused the disorder. His team isolated the missing enzyme from human placentas and, by 1973, observed positive results in patients. Genzyme was founded in 1981 by Henry Blair and Henri Termeer to produce the modified enzyme for clinical trials. Ceredase became the first effective treatment for Gaucher disease, a previously untreatable and potentially fatal genetic disorder, improving symptoms and halting disease progression. Following Ceredase, Genzyme also developed Cerezyme (imiglucerase), a recombinant version of the enzyme, which streamlined production.
Broader Genetic Research and Development
Beyond traditional ERT, Genzyme has expanded its research into other advanced genetic therapeutic modalities. The company has explored gene therapy, which involves delivering a healthy gene version to address the root cause of genetic diseases. For example, Genzyme initiated gene therapy research for cystic fibrosis in 1991, conducting clinical trials to deliver a healthy CFTR gene to patients’ lungs. While a viable treatment for cystic fibrosis has not yet been discovered, this research provided valuable expertise for other applications, including lysosomal storage disorders, Parkinson’s disease, and cardiovascular disease.
Genzyme has also ventured into cell therapy, beginning in 1994 with the acquisition of Biosurface Technology. This led to the commercialization of Epicel, an autologous keratinocyte skin graft for severe burn victims, and Carticel, an autologous chondrocyte transplantation for cartilage injury, approved by the FDA in 1997. The company continues to invest in research to discover new treatments and diagnostic tools for a wider range of genetic conditions, including exploring shared biological pathways among various lysosomal storage disorders.