John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University, explains the need for a natural history study involving Farber disease.
Farber disease is a lysosomal disorder due to mutations of the ASAH1 gene that leads to low levels of acid ceramidase and the accumulation of the lipid ceramide.
The three most common symptoms observed in children with Farber disease are joint pain, skin nodules, and a hoarse voice. In more severe forms of the disease, the accumulation of ceramide will ultimately be fatal.
There is no approved treatment for Faber disease, and current treatment strategies are largely focus on symptom management.
Dr. Mitchell is leading the natural history study to better understand this condition. To learn more about this study, click here.
To learn more about this and other lysosomal diseases, visit or disease center.