Rare Daily Staff
Rare disease drug company Enzyvant said it has formed a collaboration with the testing company PerkinElmer Genomics to provide testing to support more informed physician diagnosis and treatment of Farber disease, a rare lysosomal storage disorder.
The collaboration will provide collection packs for patient samples to screen for mutations in the ASAH1 gene, which causes Farber disease.
People with Farber disease have a deficiency of an enzyme needed to metabolize certain fats. This deficiency leads to the accumulation of lipids in cells throughout the body and triggers an inflammatory response. Farber patients typically present with symptoms that may include joint contractures or arthritis, subcutaneous nodules, and hoarse voice. Patients may also present with systemic inflammation (including fever), severe pain, peripheral osteolysis, failure to thrive, and developmental delay.
Like other lysosomal storage diseases, Farber disease is likely underdiagnosed because of the variability of symptoms from patient to patient.
“Our core mission is to develop and launch medicines to treat people living with rare diseases, particularly for the few and often forgotten patients with the highest level of unmet need,” said Alvin Shih, CEO of Enzyvant, which is currently performing preclinical work on an experimental enzyme replacement therapy for Farber disease. “Diagnosing people living with rare diseases is often difficult, and we look forward to working with PerkinElmer and the provider community to better address a key gap in the diagnoses of Farber disease patients.”
July 19, 2018
Photo: Alvin Shih, CEO of Enzyvant