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
OrphanHuman

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:

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

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.

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:

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
Sponsor

Leiden University Medical Center
P.O. Box 9600
2300 RC Leiden
Netherlands
E-mail: communicatie@lumc.nl

EMA list of opinions on orphan medicinal product designation

EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

EU register of orphan medicines

The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:

Share this page