EU/3/13/1196 - orphan designation for treatment of Wiskott-Aldrich syndrome
Autologous CD34+ cells transfected with lentiviral vector containing the Wiskott-Aldrich syndrome protein gene (etuvetidigene autotemcel)
OrphanHuman
Overview
Please note that this product was withdrawn from the Union Register of orphan medicinal products in January 2025 on request of the Sponsor.
On 7 October 2013, orphan designation (EU/3/13/1196) was granted by the European Commission to Généthon, France, for autologous CD34+ cells transduced with a lentiviral vector containing the human Wiskott-Aldrich syndrome gene for the treatment of Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome is an inherited disease, seen almost exclusively in males, that affects blood cells and cells of the immune system (the body's natural defences). It is caused by abnormalities in the gene that produces the Wiskott-Aldrich syndrome (WAS) protein. Because patients with the condition lack the WAS protein, their immune cells and blood cells do not develop and function normally.
Patients with Wiskott-Aldrich syndrome have problems with bruising and bleeding easily because they have too few normal platelets (components that help the blood to clot), frequent infections because they have too few normal immune cells and eczema (itchy, red rash). In addition, there is a higher risk of developing some types of cancer, such as lymphoma.
Wiskott-Aldrich syndrome is life-threatening and long-term debilitating due to recurrent infections that can lead to sepsis (when bacteria and their toxins circulate in the blood and start damaging the organs), bleeding episodes and cancer.
At the time of designation, Wiskott-Aldrich syndrome affected approximately 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of around 500 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 512,200,000 (Eurostat 2013).
At the time of designation, no satisfactory methods were authorised in the EU for Wiskott-Aldrich syndrome. Patients were managed with platelet transfusion to prevent bleeding and with immunoglobulin transfusion and antibiotics to prevent infections. A minority of patients was able to receive a bone marrow transplant.
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, the cells are modified by a virus that contains the gene for the WAS protein, so that this gene is carried into the 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 producing the WAS protein, which is lacking in patients with Wiskott-Aldrich syndrome.
The type of virus used in this medicine ('lentivirus') is modified in order not to cause disease in humans.
The effects of the medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with Wiskott-Aldrich syndrome were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for Wiskott-Aldrich syndrome or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 4 September 2013 recommending the granting of this designation.
- the seriousness of the condition;
- the existence of alternative methods of diagnosis, prevention or treatment;
- either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.
Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.
Key facts
- Active substance
- Autologous CD34+ cells transfected with lentiviral vector containing the Wiskott-Aldrich syndrome protein gene (etuvetidigene autotemcel)
- Intended use
- Treatment of Wiskott-Aldrich syndrome
- Orphan designation status
- Withdrawn
- EU designation number
- EU/3/13/1196
- Date of designation
- Sponsor
Généthon
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
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: