EU/3/21/2488 - orphan designation for treatment of Diamond-Blackfan anaemia

autologous CD34+ cells transfected with a lentiviral vector containing codon optimised RPS19 gene

Overview

This medicine was designated as an orphan medicine for the treatment of Diamond-Blackfan anaemia in the European Union on 20 August 2021.

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

How the medicine is expected to work

Some patients with Diamond-Blackfan anaemia lack a protein called RPS19; this affects the ability of their bone marrow to produce red blood cells and causes anemia. The medicine, also known as APR-2020, comprises cells taken from the patient’s bone marrow which have been modified in a laboratory to contain a working copy of the gene for RPS19. When they are injected to the patient, these modified cells are expected to produce RPS19, thereby relieving the symptoms of the disease.

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 Diamond-Blackfan anaemia 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 13-15 July 2021

Adopted Reference Number: EMA/COMP/424709/2021

Key facts

• Active substance:
  autologous CD34+ cells transfected with a lentiviral vector containing codon optimised RPS19 gene
• Intended use:
  Treatment of Diamond-Blackfan anaemia
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/21/2488
• Date of designation:
  20/08/2021
• Sponsor:

  YES Pharmaceutical Development Services GmbH; Basler Strasse 7; Gonzenheim; 61352 Bad Homburg; Hesse; Germany

  E-mail: [e-mail]