Therapeutic Areas

Diseases we’re on a mission to change

We are deeply committed to patients living with rare diseases who have little-to-no treatment options, and this passion fuels and inspires us. Our commercial and development efforts are focused in two therapeutic areas – neurology and metabolic conditions – in which we have deep experience and a record of success.

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

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

Clinical Trials at PTC

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