EU/3/22/2741 - orphan designation for treatment of recombination-activating gene 2 deficient severe combined immunodeficiency

autologous hematopoietic cells genetically modified with a lentiviral vector containing the human RAG2 gene

Overview

This medicine was designated as an orphan medicine for the treatment of recombination-activating gene 2 deficient severe combined immunodeficiency in the European Union on 13 January 2023.

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

This medicine belongs to the class of: Gene transference

Recombination activating gene 2 (RAG2)-deficient severe combined immunodeficiency (SCID) is a rare inherited condition in which there is a mutation (change) in the gene needed to make the RAG2 protein. This medicine is made up of immature bone marrow cells (called CD34+ cells) that are taken from the patient. These cells are able to develop into different types of blood and immune cells. To make this medicine, these CD34+ cells are modified in a laboratory by a virus that contains the gene for the RAG2 protein, so that it is included within the CD34+ cells. When these modified cells are transplanted back into the patient, they are expected to populate the bone marrow and produce healthy blood and immune cells that produce the RAG2 protein, which are lacking in patients with RAG2-deficient SCID.
The type of virus used in this medicine ('lentivirus') is modified and cannot 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 recombination-activating gene 2 deficient severe combined immunodeficiency 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 6-8 December 2022

Adopted Reference Number: EMA/COMP/946245/2022

Key facts

• Active substance:
  autologous hematopoietic cells genetically modified with a lentiviral vector containing the human RAG2 gene
• Intended use:
  Treatment of recombination-activating gene 2 deficient severe combined immunodeficiency
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/22/2741
• Date of designation:
  13/01/2023
• Sponsor:

  Leiden University Medical Center; P.O. Box 9600; 2300 RC Leiden; Netherlands; E-mail: [e-mail]