Roivant Sciences and Plexcera Therapeutics have announced the formation of Enzyvant Sciences, a new biopharmaceutical company focused on the development of recombinant human acid ceramidase (rhAC), an enzyme replacement therapy for the treatment of patients with Farber disease.
Developed in the lab of Professor Edward Schuchman, PhD, at the Icahn School of Medicine at Mount Sinai, rhAC showed promising results in a mouse model of Farber disease, and was initially licensed to Plexcera prior to the formation of Enzyvant.
At Enzyvant, the rhAC program will benefit from the continued involvement of the experienced medical and scientific team from Plexcera, while gaining the extensive pharmaceutical development expertise and financial support of Roivant.
"I am very excited about the future of rhAC. Similar to other enzyme replacement therapies, rhAC has the potential to be a transformative therapy for patients afflicted with Farber disease, a population with clear unmet medical needs," said Dr. Edward Schuchman, Genetic Disease Foundation Francis Crick Professor, Vice Chair for Research, Department of Genetics & Genomic Sciences, at the Icahn School of Medicine at Mount Sinai in New York City. Professor Schuchman will continue to play an integral role in the development of rhAC.
Enzyvant expects to rapidly progress the development of rhAC by:
Working toward regulatory filings to enable initial clinical trials
Developing a framework for the systematic collection of natural history data on all patients diagnosed to date
Seeking collaboration with all physicians and institutions who are caring for Farber patients, or who have diagnosed patients in the past
Accelerating efforts to educate the medical community about Farber disease, and to provide easily accessible diagnostic testing and guidance for physicians
Progressing its strategic plan to connect and support patients from around the world, and help them to engage with the larger rare disease patient community
Vivek Ramaswamy, Chief Executive Officer of Roivant Sciences, Inc., commented: "At Enzyvant, we have formed an outstanding team of experts in the field of Farber disease, drawing from the pioneering research performed at Mount Sinai and the patient-focused initiatives at Plexcera. Enzyvant plans to rapidly advance rhAC in an efficient manner centered on serving the needs of patients with Farber disease and their families."
About Farber disease
Farber disease is an ultra-rare lysosomal storage disease caused by a mutation in both alleles of the ASAH1 gene, resulting in the 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 the typical clinical symptoms.
Like many other lysosomal storage diseases, Farber disease has a broad phenotypic spectrum, and is likely underdiagnosed.
Farber patients typically present with the cardinal symptoms of:
Joint contractures or arthritis
Weak or hoarse voice
It may take years for all three cardinal symptoms to appear together, and they may vary greatly in severity. Patients may also present with systemic inflammation (fever), severe pain, peripheral osteolysis, failure to thrive, and developmental delay.
In addition to Farber disease, a mutation in the ASAH1 gene and the resulting acid ceramidase deficiency may also lead to a severe neurological disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).
It is anticipated that rhAC may have a therapeutic role in these patients as well and Enzyvant looks forward to exploring this possibility, taking advantage of ongoing work by a network of academic and clinical research collaborators established by Plexcera and Dr. Schuchman.