EU/3/21/2409: Orphan designation for the treatment of creatine deficiency syndromes

This medicine is a creatine prodrug that can enter the neurons, regardless of transporter, and deliver creatine into the cells. In creatine transporter deficiency syndrome, creatine, a source of energy for the cells, cannot enter the neurons due to a deficient transporter. The medicine is administered in the nose and follows the nose-to-brain route, passively entering olfactory neurons, and reaching their origin in the brain. From there, it diffuses from neuron to neuron through synapses, delivering creatine in all brain areas. By providing creatine (energy) to neurons, this medicine is expected to restore normal functioning and treat or reduce symptoms of creatine transporter deficiency in patients with the condition.

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 creatine deficiency syndromes 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