Nils Confer, Vice President, Medical and Patient Strategies at Aceragen, provides an overview of Farber disease.
Farber disease is a lysosomal disorder due to mutations in the ASAH1 gene. It leads to reduced activity of acid ceramidase. This deficiency results in the abnormal accumulation of ceramide.
Symptoms of Farber disease can vary greatly but common early symptoms include subcutaneous nodules, joint pain, and a hoarse or weak voice. Due to the rarity of the condition, it is often misdiagnosed as juvenile idiopathic arthritis (JIA).
Aceragen is currently developing ACG-801, an enzyme replacement therapy for this condition.
At the WORLDSymposium meeting in Orlando, FL, Confer and colleagues presented data showing that quantification of skin nodules in patients with Farber disease may be a viable biomarker for future clinical studies.
To learn more about this and other lysosomal disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/
