Diseases we’re on a mission to change
Since its inception, PTC has been viewed as an expert in RNA biology. Today, our biotechnology platforms have expanded, but harnessing the most promising scientific approach to target the root cause of a disorder has remained constant.
Familial chylomicronemia syndrome (FCS) Serious disease that prevents the body from breaking down fats
Familial partial lipodystrophy (FPL) Group of diseases characterized by an abnormal distribution of fat around the body
Amyotrophic lateral sclerosis (ALS) Rapidly progressing neurodegenerative disease caused by oxidative damage which leads to neuronal cell death and muscular atrophy
Aromatic l-amino acid decarboxylase (AADC) deficiency Patients with AADC deficiency lack dopamine, an essential neurotransmitter that controls movement
Duchenne muscular dystrophy (DMD) Rare and fatal genetic disorder resulting in progressive muscle weakness from early childhood
Friedreich ataxia (FA) Rare, inherited, progressive disease resulting from mitochondrial dysfunction
Hereditary transthyretin amyloidosis (hATTR) Rare and fatal disease where deposits of amyloids cause progressive damage to multiple organ systems
Huntington's disease (HD) Progressive brain disorder that causes uncontrolled movements and cognitive loss
Mitochondrial disease associated seizures (MDAS) Highly morbid condition of refractory seizures in patients with inherited mitochondrial disease
Clinical Trials at PTC
Developing an array of potential therapies
PTC is conducting a wide range of clinical trials in a variety of rare diseases. Interested in enrolling in a clinical trial?