EU/3/13/1118: Orphan designation for the treatment of neuronal ceroid lipofuscinosis type 2

Neuronal ceroid lipofuscinosis type 2 (also known as Jansky-Bielschowsky disease) is one of a group of inherited diseases belonging to the larger family of metabolic disorders called 'lysosomal storage diseases'. Patients with this condition are unable to produce enough of the enzyme tripeptidyl-peptidase 1, which plays a role in breaking down proteins inside the cells. This results in a build-up of deposits known as lipofuscins in the cells, including nerve cells, which damages tissues and leads to progressive degeneration of the brain and retina (the light-sensitive layer at the back of the eye). Symptoms usually begin between two and four years of age, and include delayed speech, inability to coordinate muscle movements, fits, loss of vision and mental deterioration.

Neuronal ceroid lipofuscinosis type 2 is a long-term debilitating and life-threatening disease that usually leads to death between the ages of eight and 12.

At the time of designation, neuronal ceroid lipofuscinosis type 2 affected approximately 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 15,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 509,000,000 (Eurostat 2013).

At the time of orphan designation there were no satisfactory treatments authorised in the EU for neuronal ceroid lipofuscinosis type 2. The disease was managed by treating the symptoms of the disease.

Tripeptidyl-peptidase 1 is the enzyme that is lacking in patients with neuronal ceroid lipofuscinosis type 2. The medicine is expected to act as a replacement for the missing enzyme, carrying out its normal function of breaking down protein in the cells, which is ultimately expected to improve the overall outcome of patients.

The enzyme in this medicine is produced by a method known as 'recombinant DNA technology': it is made by cells that have received a gene (DNA), which makes them able to produce the enzyme.

The effects of recombinant human tripeptidyl-peptidase 1 have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with neuronal ceroid lipofuscinosis type 2 had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for neuronal ceroid lipofuscinosis type 2 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 6 February 2013 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.