EU/3/21/2474: Orphan designation for the treatment of neuronal ceroid lipofuscinosis

This medicine is expected to be used in patients with neuronal ceroid lipofuscinosis type 1. These patients have mutations (changes) in the CLN1 gene that is responsible for the production of an enzyme called PPT1 needed for proper breakdown of molecules called lipofuscins in the body.

The medicine consists of blood stem cells taken from the patient and treated with a modified virus containing the gene for the missing PPT1 enzyme. When the stem cells are given back to the patient, the cells will produce the missing enzyme, breaking down the lipofuscins and thereby helping to relieve symptoms of the disease. The virus used in this medicine does not cause disease in humans.

Based on description provided by sponsor

At the time of submission of the application for orphan designation:

• The effects of the medicine had been evaluated in experimental models.

• No clinical trials with the medicine in patients with neuronal ceroid lipofuscinosis had been started.

More information on how potential new medicines are tested during their development is available on Authorisation of medicines.

Medicines intended for rare diseases can be granted an orphan designation during their development.

The orphan designation allows the developer to benefit from:

• scientific and regulatory support to advance their medicine to the stage where they can request marketing authorisation;

• market exclusivity once the medicine is on the market.

To qualify for orphan designation, a medicine must meet a number of criteria:

• it must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating;

• the prevalence of the condition in the EU must not be more than 5 in 10,000 or it must be unlikely that marketing of the medicine would generate sufficient returns to justify the investment needed for its development;

• there are no satisfactory alternative methods for the diagnosis, prevention or treatment of the condition or the medicine is of significant benefit to those affected by the condition.

EMA's Committee for Orphan Medicinal Products (COMP) is responsible for issuing opinions on applications for orphan designations.

The Agency sends the COMP opinion to the European Commission, which is responsible for granting the orphan designation. The full list of orphan designations is available in the Community register of orphan medicinal products for human use.

For more information, see:

• Orphan designation: Overview

• Rare diseases, orphan medicines: Getting the facts straight