This medicine was designated as an orphan medicine for the treatment of Diamond-Blackfan anaemia in the European Union on 12 November 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:
The sponsor's name was updated in November 2022.
Patients with Diamond-Blackfan anaemia have damaging changes (mutations) in genes needed for normal functioning of the bone marrow (the tissue that makes blood cells). About a quarter of all patients have a mutation in the gene RPS19 that means it does not work properly. The medicine is made using a virus that contains normal copies of the RPS19 gene. CD34+stem cells (cells that can produce other blood cells) are first taken from the patient and the virus carries working copies of the normal gene into the cells. These modified cells are transplanted back into the patient where they are expected to start producing healthy blood cells thus altering or halting the disease.
Based on description provided by sponsor
At the time of submission of the application for orphan designation:
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:
To qualify for orphan designation, a medicine must meet a number of criteria:
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:
Consorcio Centro de Investigación Biomédica en Red
| Date | Update |
|---|---|
| November 2022 | The sponsor's name was updated. |
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: