NEW YORK (GenomeWeb) – Research-stage biopharmaceutical company Enzyvant said today it has partnered with PerkinElmer to offer diagnostic testing for Farber disease to patients and their medical providers.
Through its PerkinElmer Genomics laboratory and genetic testing unit, PerkinElmer will offer eligible patients access to collection packs for sample intake in order to screen for mutations in the ASAH1 gene. Mutations in ASAH1 manifest as Farber disease, which is a rare lysosomal storage disorder resulting in deficiency of the lysosomal enzyme acid ceramidase. This leads to the accumulation of the pro-inflammatory sphingolipid ceramide, and a macrophage-driven inflammatory process causing the development of a wide range of symptoms, including joint contractures or arthritis, subcutaneous nodules, and/or weak or hoarse voice.
Patients are often misdiagnosed, Enzyvant said, adding that the aim of the collaboration is more precise diagnostic testing leading to more informed treatment decision-making. Financial terms of the collaboration were not disclosed.
"We are excited to work with PerkinElmer Genomics to assist healthcare providers to diagnose patients living with Farber disease," Enzyvant CEO Alvin Shih said in a statement. "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. 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."