BASEL, Switzerland and WALTHAM, Mass., July 19, 2018 /PRNewswire/ — Enzyvant, a biopharmaceutical company focused on developing innovative treatments for people living with rare diseases, today announced that it has formed a collaboration with PerkinElmer Genomics, a global genomic testing company.
PerkinElmer Genomics will leverage its network of global labs and testing platform to offer eligible providers and patients around the world access to collection packs for patient sample intake in order to screen for mutations in the ASAH1 gene. Mutations in ASAH1 typically manifest as Farber disease, a rare lysosomal storage disorder that causes a wide range of symptoms across the body. Given the variability in clinical presentation, people living with Farber disease are often misdiagnosed by their physicians. This collaboration is intended to support more informed physician diagnosis and treatment decision-making to the benefit of patient care.
“We are excited to work with PerkinElmer Genomics to assist healthcare providers to diagnose patients living with Farber disease,” said Dr. Alvin Shih, Chief Executive Officer at Enzyvant. “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.”
“Our collaboration with Enzyvant gives hope to the people who may live with Farber disease and remain undiagnosed or misdiagnosed. We are excited to help provide access to high quality genetic testing to patients across the globe,” said Dr. Madhuri Hegde, Vice President and Chief Scientific Officer for PerkinElmer’s Diagnostics business group.
About Farber Disease
Farber disease is a rare lysosomal storage disease caused by mutations in the ASAH1 gene, resulting in deficiency of the lysosomal enzyme acid ceramidase. This deficiency leads to the accumulation of the pro-inflammatory sphingolipid ceramide, and a macrophage-driven inflammatory process causing the development of typical clinical symptoms.
Farber patients typically present with the cardinal symptoms of joint contractures or arthritis, subcutaneous nodules, and/or weak or 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 has a broad phenotypic spectrum and is likely underdiagnosed.
Enzyvant is a research stage biopharmaceutical company focused on developing innovative treatments for people living with rare diseases, including potential treatments for Farber disease. Enzyvant is currently conducting preclinical studies on RVT 801, a recombinant form of human acid ceramidase (rhAC) with the hope of enabling clinical trials to study the use of RVT 801 as an enzyme replacement therapy in acid ceramidase deficiency, manifesting as Farber disease.
For more information, please visit www.enzyvant.com.
SOURCE Enzyvant and PerkinElmer