Please note that this product was withdrawn from the Union Register of orphan medicinal products in October 2024 on request of the Sponsor.
On 13 November 2020, orphan designation EU/3/20/2362 was granted by the European Commission to Real Regulatory Limited, Ireland, for autologous bone marrow derived CD34+ cells transduced ex vivo with a self-inactivating lentiviral vector containing a normal version of the coding region of the IL2RG gene (also known as MB-107) for the treatment of X-linked severe combined immunodeficiency.
X-linked severe combined immunodeficiency is an inherited disease caused by a mutation (change) in a gene needed to make a protein of the immune system (the body’s natural defences) called IL2RG. As a result, the immune system does not work well. The disease almost exclusively affects males who can catch serious infections soon after birth.
X-linked severe combined immunodeficiency is chronically debilitating and without effective treatment patients rarely live longer than 2 years.
At the time of designation, X-linked severe combined immunodeficiency 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).
*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, intravenous immunoglobulin (IVIG) was authorised in the EU for use in X-linked severe combined immunodeficiency. In some patients, haematopoietic (blood) stem-cell transplantation was used. This is a procedure where the patient receives stem cells from a donor to form new bone marrow that produces healthy immune cells.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with X-linked severe combined immunodeficiency because early data found improvement in the immune function and some patients no longer needed IVIG after treatment. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Patients with X-linked severe combined immunodeficiency have mutations in the IL2RG gene which is crucial for the normal development of the immune system. This medicine is made up of cells taken from the patient’s bone marrow. To make this medicine, the cells are modified in the laboratory using a virus to insert a working copy of the IL2RG gene. When the modified cells (medicine) are transplanted back into the patient, they are expected to produce healthy cells that restore normal immune function.
The type of virus used in this medicine 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, no clinical trials with the current version of the medicine in patients with X-linked severe combined immunodeficiency had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of X-linked severe combined immunodeficiency or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 8 October 2020, recommending the granting of this designation.
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.
Transcrip Ireland Limited
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: