Enzyvant and PerkinElmer to develop gene test for ultrarare Farber disease

The test aims to enable Enzyvant’s enzyme replacement therapy currently in preclinical studies. (Pixabay)

Roivant Sciences’ rare disease offshoot, Enzyvant, is partnering up with PerkinElmer Genomics to develop a test for the genetic mutations associated with Farber disease, an ultrarare lysosomal storage disorder.

PerkinElmer will provide collection packs and manage patient sample intake through its global network of laboratories. Mutations in the ASAH1 gene can cause a wide range of symptoms, which can be misdiagnosed by physicians. Less than 100 cases of the hereditary disorder have been confirmed worldwide, according to the National Institutes of Health.


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The test will potentially enable—or create a wider market for—Enzyvant’s enzyme replacement therapy currently in preclinical studies. Enzyvant is evaluating a recombinant form of acid ceramidase, RVT 801, which was originally developed at Mount Sinai’s Icahn School of Medicine.

“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,” Enzyvant CEO Alvin Shih said in a statement.

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In Farber disease, also known as acid ceramidase deficiency, the genetic mutations cause a lack or malfunction of the enzyme needed to break down certain fats—causing lipids to build up within the body, typically around the joints, and triggering an inflammatory response with symptoms more commonly attributed to arthritis.

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"Our collaboration with Enzyvant gives hope to the people who may live with Farber disease and remain undiagnosed or misdiagnosed,” said Madhuri Hegde, VP and chief scientific officer for PerkinElmer's diagnostics business unit. “We are excited to help provide access to high quality genetic testing to patients across the globe.”

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