- Global study aims to define the natural course of Farber disease and the relationship between specific symptoms, biomarkers, and prognosis
- Enzyvant anticipates initiating clinical trial of RVT-801 for Farber disease in 2018
BASEL, Switzerland, October 16, 2017 / PRNewswire / — Enzyvant, a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases, today announced the initiation of the Farber Disease Natural History Study.
The primary aim of the study is to establish the natural history and phenotypic spectrum of Farber disease through the collection and analysis of data from patients diagnosed with the condition. All patients with a confirmed diagnosis of Farber disease are eligible for participation in the study. Data from deceased patients will also be collected for retrospective analysis. Trial sites around the world are being initiated in anticipation of global enrollment of approximately 40 patients. For more information, please refer to ClinicalTrials.gov (ID: NCT03233841) or contact Senior Medical Director Alexander Solyom, MD, at firstname.lastname@example.org.
“The collection of data from past and current patients with Farber disease will prove invaluable in providing information on disease presentation, prognosis, and impact,” said Alvin Shih, MD, Chief Executive Officer of Enzyvant. “It is our hope that the participation of patients, families, and physicians in this study will yield a better understanding of the natural history of this rare and frequently misdiagnosed disease and lay the groundwork for a therapeutic trial in Farber disease.”
Enzyvant is simultaneously conducting preclinical studies for RVT-801, a recombinant form of human acid ceramidase (rhAC), to enable a clinical trial of rhAC as an enzyme replacement therapy in patients with Farber disease. Subject to regulatory review, the company intends to initiate a clinical trial of RVT-801 in 2018.
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
- 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.
RVT-801 is a recombinant form of human acid ceramidase (rhAC) that Enzyvant is developing for potential use as an enzyme replacement therapy in acid ceramidase deficiency, manifesting as Farber disease. Enzyvant is currently conducting preclinical studies to enable a clinical trial of rhAC in patients with Farber disease. Orphan drug designation for RVT-801 has been granted by regulatory agencies in the United States and the European Union.
Enzyvant is a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases. Enzyvant is conducting a natural history study of patients with Farber disease to better define the natural course of disease and the relationship between specific symptoms, biomarkers, and prognosis. Enzyvant is simultaneously preparing a clinical trial of RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease.
Enzyvant is also advancing the development of RVT-802, an investigational tissue-based biologic therapy for the potential treatment of primary immune deficiency associated with complete DiGeorge Syndrome. RVT-802 has been granted orphan drug designation, Breakthrough Therapy designation, Regenerative Medicine Advanced Therapy designation, and pediatric rare disease designation by the U.S. Food and Drug Administration. Enzyvant anticipates a potential BLA filing for RVT-802 in the first half of 2018. Enzyvant plans to develop treatments for additional rare diseases with high unmet need. For more information, please visit www.enzyvant.com.