Rare Diseases

We are rapidly advancing a robust pipeline in rare conditions, exploring molecules we believe have the potential to alter the course of the disease in conditions with high unmet needs. We have a comprehensive genomic medicine program and are building a toolkit of pioneering technologies, with advanced protein engineering, NANOBODY® molecules, TAILORED COVALENCY™ chemistry and small interfering RNA (siRNA) technology. Our goal is to change expectations for treatment and empower patients to better manage their health. 

Back in 1991, we delivered the first successful enzyme replacement therapy for Gaucher disease, a lysosomal storage disorder (LSD).² Thereafter, treatments for Fabry Disease, Pompe Disease, Mucopolysaccharidosis I and Acid Sphingomyelinase Deficiency followed. Today, we are focused on delivering potential first-in-class solutions in hemophilia. These milestones reflect our continued commitment to bringing transformative, innovative therapies to people living with rare diseases worldwide. 

This focus on diseases with high unmet needs includes a current pipeline with potential treatments for: 

• Pompe disease, infantile onset: Enzyme replacement therapy
• Fabry disease: Oral GCS inhibitor 
• Gaucher disease type 3: Oral GCS inhibitor 
• Alpha-1 antitrypsin deficiency (AATD): AAT fusion protein 
• Myotonic Dystrophy Type 1 (DM1): AAV-mediated siRNA delivery targeting toxic DMPK 
• Sickle cell disease: in vivo gene editing  

We’re leveraging our deep immunoscience expertise to investigate novel molecules that could expand our pipeline into other rare diseases where significant unmet need remains, including: 

• Focal segmental glomerulosclerosis / minimal change disease: CD40L mAb, BTK inhibitor, TNFaxOX40L NANOBODY® VHH 
• Warm autoimmune hemolytic anemia (wAIHA): BTK inhibitor 
• Sickle cell disease: reversible BTK inhibitor 
• Acquired/immune-mediated thrombotic thrombocytopenic purpura (aTTP/iTTP): von Willebrand factor inhibitor