Farber Disease
Farber Disease is a rare condition otherwise known as Acid Ceramidase Deficiency. It is a lysosomal storage disease caused by a missing ceramidase enzyme. This is due to a mutated ASAH1 gene. Farber disease results in a build up of ceramide in the lysosomes which generates the painful symptoms of the condition. These include progressive joint deformity, hoarseness, nodules underneath the skin, developmental delay, seizures, diminished muscle tone, and impaired vision among other others.
This condition is expected to be severely underdiagnosed and unfortunately, there is yet to be a cure. In fact, the disease is often misdiagnosed for juvenile idiopathic arthritis. But the medical community is well aware of the critical need for more options for these patients. Current prescriptions focus on easing the symptoms of the disease, and making life more comfortable for patients. But research is ongoing to find a cure.
Enzyvant has been working on an enzyme replacement therapy which could be used in this condition. It’s called RVT-801 and the company has just announced that they have received both Fast Track Designation and Rare Pediatric Disease Designation for this new investigational treatment.
RVT-801
RVT-801 already has Orphan Drug Designation for Farber disease by both the EMA and FDA. The two new designations further showcase the potential of this therapy. Rare Pediatric Disease Designation is given to investigational therapies for conditions that affect fewer than 200,000 children. Fast Track Designation aims to accelerate the development of potential therapies for conditions with a high unmet need. Enzyvant is also eligible for a priority review voucher for RVT-801 if their Biologic License Application is approved.
“These FDA designations underscore the significant need for a treatment for Farber disease and position RVT-801 to become available to patients as quickly as possible following a successful development program.”
The therapy is a recombinant form of ceramidase. Preclinical evaluations of RVT-801 have proved extremely promising in Farber disease. A mouse model showed that RVT-801 reduced the accumulation of ceramides. As a result, tissue inflammation was reduced in these mice.
Stay tuned to hear more updates on this potential therapy! In the meantime, you can read more about RVT-801 here.
