EU/3/16/1806

On 12 December 2016, orphan designation (EU/3/16/1806) was granted by the European Commission to Ser-mes Planificación SL, Spain, for recombinant self-complementary adeno-associated viral vector serotype 9 containing the human CLN3 gene (also known as ABO-201) for the treatment of neuronal ceroid lipofuscinosis.

What is neuronal ceroid lipofuscinosis?

Neuronal ceroid lipofuscinosis is a group of inherited diseases where substances known as lipofuscins build up in the brain and other parts of the body, such as the eye. Symptoms of the disease include delayed speech, inability to coordinate muscle movements, fits, loss of vision, mental deterioration and dementia.

Neuronal ceroid lipofuscinosis is a debilitating and life-threatening condition that leads to death in early adulthood.

What is the estimated number of patients affected by the condition?

At the time of designation, neuronal ceroid lipofuscinosis 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 isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

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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).

What treatments are available?

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

How is this medicine expected to work?

The medicine consists of a virus that contains a copy of the fully working CLN3 gene. This gene is defective in some patients with neuronal ceroid lipofuscinosis and this is the reason for the build-up of lipofuscins. When injected into patients, the virus is expected to carry the working CLN3 gene into the patient’s cells including brain cells. This is expected to help reduce the build-up of lipofuscins in the brain and prevent further brain damage.

The virus used in this medicine (adeno-associated virus) does not cause disease in humans.

What is the stage of development of this medicine?

The effects of the medicine 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 had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for neuronal ceroid lipofuscinosis 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 4 November 2016 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:

• 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.

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.