Alexander Solyom, MD of Aceragen provides an overview of the treatment options for Farber disease.
Farber disease is a lysosomal storage disorder due to a deficiency of acid ceramidase that leads to the accumulation of ceramide.
The most common symptoms of Farber disease are subcutaneous inflammatory nodules, arthritis and/or contractures, and a hoarse/weak voice. However, symptoms and symptom severity can vary greatly in this patient population and the disease is often misdiagnosed as juvenile idiopathic arthritis (JIA). Disease onset often begins in infancy but like many lysosomal storage diseases, it may occur later in life.
Current treatment options are limited and not disease specific. Bone marrow transplant may be an option for some patients while others may use high dose steroids to reduce the inflammation. One therapeutic option may be enzyme replacement therapy. As Dr. Solyom explains, Aceragen is developing an enzyme replacement therapy (ACG-801) for Farber disease and they hope to the have the therapy in clinical trials shortly.
For more information about this and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/