This medicine was designated as an orphan medicine for the treatment of pyruvate kinase deficiency in the European Union on 24 February 2022.
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.
Autologous CD34+ cells edited with CRISPR/Cas9 and transduced with an adeno-associated virus vector serotype 6 containing the codon-optimized version of PKLR gene
Treatment of pyruvate kinase deficiency
|Orphan designation status||
|EU designation number||
|Date of designation||
Consorcio Centro de Investigación Biomédica en Red
|November 2022||The sponsor's name was updated.|
Documents related to this orphan designation evaluation
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: