Mitochondrial Disease Associated Seizures (MDAS)

What are Mitochondrial Disease Associated Seizures? 

Mitochondrial diseases are rare, progressive, genetic disorders that cause physical, developmental, and cognitive disabilities that are life-limiting. The central and peripheral nervous system are often greatly affected.¹ Neurological disorders, including seizures, are therefore common with mitochondrial diseases.

Seizures caused by a mitochondrial disease can start at any age, but usually start in childhood.¹ These seizures can be very difficult to control, and prolonged seizures may cause brain injury and cognitive impairment. Other symptoms include poor growth, loss of muscle coordination, muscle weakness and pain, vision and hearing impairment, learning disabilities, and organ failure. Symptoms worsen over time, but how quickly this occurs depends on the type of mitochondrial disease.

Several diseases can be categorized as having mitochondrial associated seizures. For childhood onset mitochondria disease, these include Alpers-Huttenlocher syndrome, pyruvate dehydrogenase complex deficiencies, and Leigh syndrome.² However, many more mitochondrial diseases can also be associated with seizures.

How Common are Mitochondrial Disease Associated Seizures?  

We estimate that 20,000 people globally have mitochondrial disease associated seizures. 

How is PTC Working to Treat Mitochondrial Disease Associated Seizures? 

PTC is developing vatiquinone, a potential treatment for mitochondrial disease associated seizures based on our Bio-e platform. Vatiquinone targets 15-lipoxygenase, a regulator of the key energetic and oxidative stress pathways that underpin seizures in these patients. Vatiquinone has been evaluated in a number of clinical studies and has demonstrated an impact on mortality risk and a number of neurological and neuromuscular disease symptoms.^3,4,5