EU/3/22/2580: Orphan designation for the treatment of pyruvate kinase deficiency

This medicine is made up of a virus that contains a working copy of the PKLR gene which is responsible for making the pyruvate kinase enzyme and is missing in patients with pyruvate kinase deficiency. Immature bone marrow cells with the ability to develop into red blood cells are taken from the patient and the virus is used to deliver the gene into these cells. A permanent modification of the cells is made using the other component of the medicine, which is called CRISPR-Cas9, an enzyme combined with a small piece of genetic material (RNA) that is able to edit a specific gene. When these modified cells are transplanted back into the patient, they are expected to produce red blood cells that can produce the missing enzyme and have a more normal lifespan, thus improving the symptoms of the disease.

The type of virus used in this medicine (lentivirus) is modified so that it 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 pyruvate kinase deficiency 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