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Therapeutic Areas

Diseases we’re on a mission to change

Patient living with FCS

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

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's 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

Interested in enrolling in a clinical trial?​

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