EU/3/16/1654

Pantothenate-kinase-associated neurodegeneration (PKAN) is an inherited disease caused by a mutation (change) in the gene that produces an enzyme called pantothenate kinase-2. This enzyme is needed by brain cells for the first step in producing coenzyme A, which is essential for them to function. Patients with the disease cannot produce a functioning pantothenate kinase-2 enzyme, resulting in gradual brain damage. Symptoms of PKAN usually appear in childhood and include severe dystonia (painful muscle spasms) and Parkinson-like effects such as rigidity and slow movement, as well as loss of sight and impaired swallowing.

PKAN is a long-term debilitating and life-threatening disease due to complications of severe muscle spasms that can affect swallowing and lead to pneumonia (infection of the lungs) and malnutrition.

At the time of designation, PKAN affected less than 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 5,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 513,700,000 (Eurostat 2016).

No satisfactory methods of treatment for PKAN were authorised in the EU at the time of orphan designation. Patients received supportive therapy including muscle-relaxant medicines and Parkinson medicines to deal with the symptoms.

This medicine provides S-acetyl-(S)-4'-phosphopantetheine, which can be absorbed by cells and allows them to bypass the first step of coenzyme A production and produce normal amounts of coenzyme A, thereby improving the symptoms of the condition.

At the time of submission of the application for orphan designation, the evaluation of the effects of S-acetyl-(S)-4-phosphopantetheine, calcium salt in experimental models was ongoing.

At the time of submission, no clinical trials with the medicine in patients with PKAN had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for PKAN or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 23 March 2016 recommending the granting of this designation.

• the seriousness of the condition;
• the existence of alternative methods of diagnosis, prevention or treatment;
• either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.

Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.