Farber disease is a rare lysosomal storage disease caused by mutations in the ASAH1 gene, resulting in a deficiency of an enzyme called acid ceramidase. This deficiency leads to the accumulation of ceramide within cells, which causes a range of symptoms in various levels of severity, depending on the patient. Farber disease patients typically present with the cardinal symptoms of joint contractures or swelling, subcutaneous nodules, and/or a weak or hoarse voice.
More severe symptoms may also include impaired cognitive development due to brain involvement as well as impact on lungs, liver and bones (osteolysis). Disease onset is usually in early childhood but may occur later in life. In its most severe form, many patients don’t live beyond the age of two. Farber disease is thought to be significantly underdiagnosed, with many cases misdiagnosed as juvenile idiopathic arthritis (JIA).
Today, there is no FDA-approved treatment for Farber disease. Enzyvant is poised to become the first company to have a clinical program investigating a potential treatment for Farber disease—RVT-801, a recombinant form of human acid ceramidase for investigational use as an enzyme replacement therapy in acid ceramidase deficiency manifesting as Farber disease.
In addition to its preclinical development program, Enzyvant is dedicating considerable resources toward improving awareness and diagnosis of Farber disease:
Enzyvant is conducting the first natural history study of patients with Farber disease to better define the natural course of the disease and the relationship between specific symptoms, biomarkers, and prognosis.
Enzyvant is also collaborating with PerkinElmer to offer no-cost genetic testing to people suspected of having Acid ceramidase deficiency. Please CLICK HERE for more information about genetic testing.