EU/3/22/2580 - orphan designation for treatment of pyruvate kinase deficiency

autologous CD34+ cells edited with CRISPR/Cas9 and transduced with an adeno-associated virus vector serotype 6 containing the codon-optimized version of PKLR gene

Overview

This medicine was designated as an orphan medicine for the treatment of pyruvate kinase deficiency in the European Union on 24 February 2022.

This means that the developer will receive scientific and regulatory support from EMA to advance their medicine to the stage where they can apply for a marketing authorisation.

Orphan designation does not mean the medicine is available or authorised for use. All medicines, including designated orphan medicines, must be authorised before they can be marketed and made available to patients in the EU.

During the medicine's development, doctors may be able to enrol patients in clinical trials investigating the medicine. For information on ongoing clinical trials in the EU, see:

• EU Clinical Trials Register

• ClinicalTrials.gov

The sponsor's name was updated in November 2022.

How the medicine is expected to work

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

Stage of development at time of orphan designation

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.

About orphan designation

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

Minutes of the COMP meeting on 18-20 January 2022

Adopted Reference Number: EMA/COMP/63104/2022

Key facts

• Active substance:
  autologous CD34+ cells edited with CRISPR/Cas9 and transduced with an adeno-associated virus vector serotype 6 containing the codon-optimized version of PKLR gene
• Intended use:
  Treatment of pyruvate kinase deficiency
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/22/2580
• Date of designation:
  24/02/2022
• Sponsor:

  Consorcio Centro de Investigación Biomédica en Red;