Retrophin is biotechnology company focused on discovering and developing treatments for rare and life-threatening (orphan) diseases including Duchenne Muscular Dystrophy, PKAN and Focal Segmental Glomerulosclerosis.
Retrophin's investigational agent for Focal Segmental Glomerulosclerosis (FSGS). RE-021 is a small molecule angiotensin receptor blocker (ARB) and selective endothelin receptor antagonist (ERA). RE-021 has already been demonstrated safe in human clinical studies, and Retrophin expects to begin a clinical study in FSGS in the near term. Retrophin also expects that RE-021 could be useful as a treatment for other nephropathies and recalcitrant hypertension.
Pantothenate Kinase Associated Neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, is a rare neurological disorder with brain iron accumulation (NBIA). Its onset is usually in childhood and it is a progressive disease with most patients suffering a fatal outcome in a few years. About 25% of affected individuals have an ‘atypical’ onset which occurs after the age of 10. Features commonly associated with PKAN include dysphagia (difficulty in swallowing), rigidity, visual impairment (pigmentary retinopathy), dysarthria (motor speech disorder), and choreoathetosis (irregular migrating contracts / twisting and writhing).
The underlying cause of the disease is a genetic mutation in the pantothenate kinase (PANK2) encoding gene localized on chromosome 20p13. The mutated version of the kinase disrupts the biochemical pathway for Coenzyme A (CoA) biosynthesis. Coenzyme A is an indispensable cofactor in all living organisms.
RE-024 is a drug developed at Retrophin that aims to restore the disruption in the biochemical CoA pathway caused by the non-functioning PANK2 encoded enzyme. We believe correcting the underlying malfunction can offer a promising long term treatment to patients over symptomatic treatments.
Retrophin's investigational agent for Duchenne Muscular Dystrophy (DMD, a degenerative muscle disease). RE-001 is a recombinant fusion protein designed to substitute the dystrophin that is lacking in DMD patients.
Retrophin's investigational agent for Spinal Muscular Atrophy. In vitro experiments are underway.