EU/3/21/2496 - orphan designation for treatment of adenosine deaminase 2 deficiency (DADA2)

autologous CD34+ cell enriched population containing haematopoietic stem and progenitor cells transduced ex vivo with a lentiviral vector encoding the human ADA2 gene
OrphanHuman

Overview

This medicine was designated as an orphan medicine for the treatment of adenosine deaminase 2 deficiency (DADA2) 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:

This medicine is made up of haematopoietic stem cells taken from the patient. Haematopoietic stem cells are cells that can develop into different types of blood cells. To make this medicine, the patient’s stem cells are modified in the laboratory so they contain a healthy copy of ADA2 (a gene that is defective in patients with DADA2). When these modified cells are transplanted back into the patient, they are expected to develop into healthy white blood cells expressing the ADA2 gene.

The type of virus used in this medicine (lentivirus) has been modified so that it does not cause disease in humans.

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 adenosine deaminase 2 deficiency (DADA2) 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 CD34+ cell enriched population containing haematopoietic stem and progenitor cells transduced ex vivo with a lentiviral vector encoding the human ADA2 gene
Intended use
Treatment of adenosine deaminase 2 deficiency (DADA2)
Orphan designation status
Positive
EU designation number
EU/3/21/2496
Date of designation
Sponsor

Fondazione Telethon Ets

Update history

Date Update
November 2022 The sponsor's name was changed from Fondazione Telethon to Fondazione Telethon Ets in November 2022.

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:

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