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.
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 first few years of life. 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, such as:
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
Collaborating with PerkinElmer to offer no-cost genetic testing to people suspected of having acid ceramidase deficiency. Click here for more information about genetic testing
Sponsoring DetectLSDs, providing free genetic testing for people in the US and Canada suspected of having a lysosomal storage disease. Click here for more information
Participating in ASAP for Children (association for medical research on the ASAH1 gene)