ACG-801 (Farber Disease)

Aceragen is engaged in the clinical development of ACG-801, recombinant human acid ceramidase. ACG-801 is an investigational enzyme replacement therapy for the treatment of Farber disease. Our plans include evaluating the efficacy and safety of ACG-801 in a single study of Farber disease patients for registration and scaling the manufacturing process in preparation for commercialization.

Farber Disease

Farber disease is a lysosomal storage disorder that is characterized by deficiency of the acid ceramidase enzyme, first described by Dr. Sidney Farber in 1947. Acid ceramidase primarily acts in the lysosome to modulate levels of ceramide, a bioactive lipid that can have proinflammatory and proapoptotic properties when in excess. Abnormal accumulation of ceramide leads to macrophage-driven inflammation and multiple organ system pathology, with impact on bone, cartilage, the immune system, central nervous system (CNS), lungs and other organs. It is a progressive disease, with profound morbidity and often premature death.

The cardinal symptoms of Farber disease are subcutaneous nodules, joint disease (arthritis and/or contractures), and a hoarse or weak voice. These symptoms may vary in severity from patient to patient and it may take years for all the symptoms to appear together. This can lead to long delays in diagnosis or a misdiagnosis of juvenile idiopathic arthritis (JIA). In animal models of Farber disease that exhibit a very severe phenotype resulting in early death, injected recombinant human acid ceramidase was shown to reduce levels of ceramide and inflammation in the affected tissues and organs, with an excellent safety profile. A first-longitudinal natural history study of patients with Farber disease has been completed, enhancing our understanding of the disease process and its impact on patients and families.