EU/3/19/2134: Orphan designation for the treatment of infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy is a genetic disorder that mainly affects the nervous system. The condition usually starts in children before the age of 3 years, with the child’s having difficulties with movement and slowly losing vision and intellectual skills.

The disease is caused by the build-up of substances in the nerves endings throughout the brain and body, which prevents them from working properly.

Infantile neuroaxonal dystrophy is a debilitating and life-threatening disease because of its progressive symptoms. The disease usually leads to death in childhood.

At the time of designation, infantile neuroaxonal dystrophy affected less than 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 500 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 518,400,000 (Eurostat 2019).

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of infantile neuroaxonal dystrophy. Patients received supportive treatment such as physiotherapy and medicines to relieve symptoms and improve the patient's general condition.

The medicine works by blocking production of the substances that build up in the nerves endings of patients with infantile neuroaxonal dystrophy. As a result, the medicine is expected to prevent the damages caused by their build-up in patients with the condition.

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with infantile neuroaxonal dystrophy were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for infantile neuroaxonal dystrophy. Orphan designation had been granted in the United States for PLA2G6–associated neurodegeneration. 

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 24 January 2019 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.