Therapeutic areas

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.

Metabolism

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

Phenylketonuria (PKU) Metabolic condition caused by mutations to phenylalanine hydroxylase that can lead to cognitive disabilities and seizures

Neurology

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

Spinal muscular atrophy (SMA) Hereditary disease that progressively destroys motor neurons

Oncology

Diffuse intrinsic pontine glioma (DIPG) Childhood brain cancer

Leiomyosarcoma (LMS) Rare and aggressive cancer with tumors found in smooth muscle

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?

Find a clinical trial