EU/3/20/2326 - orphan designation for treatment of Gaucher disease
Autologous CD34+ cells transduced with a lentiviral vector encoding glucosylceramidase beta
OrphanHuman
Overview
Please note that this product was withdrawn from the Union Register of orphan medicinal products in September 2023 on request of the Sponsor.
On 21 August 2020, orphan designation EU/3/20/2326 was granted by the European Commission to Clinical Technology Centre (Ireland) Limited, Ireland, for autologous CD34+ cells transduced with a lentiviral vector encoding glucosylceramidase beta (also known as AVR-RD-02) for the treatment of Gaucher disease.
Gaucher disease is an inherited disorder that is caused by the lack of an enzyme called glucocerebrosidase beta. This enzyme normally breaks down a fatty waste product called glucocerebroside. Without the enzyme, glucocerebroside builds up in the body, typically in the liver, spleen and bone marrow. This causes a wide range of symptoms, including anaemia (low red blood cell counts), tiredness, easy bruising and a tendency to bleed, an enlarged spleen and liver, and bone pain and fractures. Some severe forms of the disease affecting children also involve the brain, which may cause problems such as abnormal eye and head movements and seizures (fits).
Gaucher disease is a long-term debilitating and life-threatening disease that is associated with a reduced life expectancy if left untreated.
At the time of designation, Gaucher disease affected approximately 0.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 31,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).
At the time of designation, four medicines (eliglustat, imiglucerase, miglustat and velaglucerase alfa) were authorised for the treatment of Gaucher disease in the EU. Imiglucerase and velaglucerase alfa are 'enzyme replacement therapies' that work by replacing the missing enzyme. Eliglustat and miglustat block the production of glucocerebroside.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with Gaucher disease because laboratory results showed that the medicine significantly increased levels of glucocerebrosidase beta in spleen, liver and bone marrow. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
The medicine is made up of 'haematopoietic stem cells' that are taken from the patient. Haematopoietic stem cells are cells that can develop into different types of blood cell. To make this medicine, the cells are modified by a virus that carries normal copies of the gene for glucocerebrosidase beta (the enzyme that is missing in patients with Gaucher disease) into the cells. When these modified stem cells are given back to the patient, they are expected to produce the missing enzyme, thus restoring the body's ability to break down glucocerebroside.
The type of virus used in this medicine (‘lentivirus') is modified so that it does not 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 Gaucher disease were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of Gaucher disease. Orphan designation of the medicine had been granted in the United States for Gaucher disease.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 16 July 2020, 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 transduced with a lentiviral vector encoding glucosylceramidase beta
- Intended use
- Treatment of Gaucher disease
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2326
- Date of designation
- Sponsor
PPD Bulgaria EOOD
Tsarigradsko Shose Boulevard 115
Sofia
1784
Bulgaria
Email: carmen.vieira@avrobio.com
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Update history
| Date | Update |
|---|---|
| May 2022 | The sponsorship was transferred to PPD Bulgaria EOOD, Bulgaria in May 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: