EU/3/22/2700: Orphan designation for the treatment of neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis type 2 (CLN2) is one type in a family of rare neurodegenerative disease caused by harmful deposits, known as lipofuscins, in a patient’s cells. Because of mutations (changes) in the CLN2 gene, affected patients do not produce TPP1, a protein needed to break down lipofuscins. Symptoms of the disease typically start at 2 to 4 years of age and include delayed speech, seizures, motor and cognitive impairment, and mental disability. CLN2 is a progressive debilitating disease which is fatal during childhood.

This medicine, also known as LX1004, is a modified adenovirus-associated virus which does not cause disease in humans. It is used to replace the mutated CLN2 gene with a functioning copy in neuronal cells. Injection of this medicine into the brain of patients with CLN2 is expected to preserve neuronal cell function and relieve disease symptoms.

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 sickle cell disease 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, if such a method exists, 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