EU/3/11/931

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Orphan designation

On 9 December 2011, orphan designation (EU/3/11/931) was granted by the European Commission to Genzyme Europe BV, the Netherlands, for plerixafor for adjunctive treatment to cytotoxic therapy in acute myeloid leukaemia

What is acute myeloid leukaemia?

Acute myeloid leukaemia (AML) is a cancer of the white blood cells (cells that fight against infections). In patients with AML, the bone marrow (the spongy tissue inside the large bones where blood cells are produced) produces large numbers of abnormal, immature white blood cells. These abnormal cells quickly build up in large numbers in the bone marrow and are found in the blood.

AML is a life-threatening disease because these abnormal immature cells take the place of the normal white blood cells, reducing the patient’s ability to fight infections.

What is the estimated number of patients affected by the condition?

At the time of designation, acute myeloid leukaemia affected approximately 1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 51,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).

What treatments are available?

Treatment of AML is complex and depends on a number of factors including the extent of the disease, whether it has been treated before, and the patient’s age, symptoms and general state of health. At the time of designation, the main treatments for AML were chemotherapy (medicines to treat cancer) and haematopoietic (blood) stem-cell transplantation, a complex procedure where the patient receives stem cells from a matched donor to help restore the bone marrow. Haematopoietic stem cells are cells in the bone marrow that can develop into different types of blood cells.

The sponsor has provided sufficient information to show that plerixafor might be of significant benefit for patients with AML because it works in a different way to existing treatments and early studies show that it might improve the treatment of patients when used in combination with chemotherapy. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

How is this medicine expected to work?

Plerixafor is already authorised in the EU as a treatment to mobilise haematopoietic stem cells from the bone marrow into the blood stream, in order to collect them prior to stem cell transplantation. Plerixafor works by blocking the activity of a protein called CXCR4, which helps to keep stem cells within the bone marrow. By blocking its activity, plerixafor allows the stem cells to be released into the blood stream.

In AML plerixafor is expected to mobilise the leukaemia cells from the bone marrow into the blood stream, by blocking the activity of CXCR4. When the leukaemia cells are released into the blood stream they are expected to become more susceptible to chemotherapy. Therefore, plerixafor is expected to be used together with chemotherapy. By blocking CXCR4, plerixafor is also expected to reduce the survival of leukaemia cells.

What is the stage of development of this medicine?

The effects of plerixafor have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with plerixafor in patients with AML were ongoing.

At the time of submission, plerixafor was authorised in the EU for use in patients with lymphoma and multiple myeloma to mobilise haematopoietic stem cells for autologous stem cell transplantation.

At the time of submission, orphan designation of plerixafor had been granted in the United States of America for use in the treatment of AML.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 7 October 2011 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria
  • 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

Product details for <p>Plerixafor</p>
Active substancePlerixafor
Medicine Name
Disease/conditionAdjunctive treatment to cytotoxic therapy in acute myeloid leukaemia
Date of decision09/12/2011
OutcomePositive
Orphan decision numberEU/3/11/931

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

Sponsor’s contact details:

Genzyme Europe B.V.
Gooimeer 10
1411 DD Naarden
The Netherlands
Telephone: +31 35 699 1200
Telefax: + 31 35 694 3214
eumedinfo@genzyme.com

Patients' organisations:

For contact details of patients’ organisations whose activities are targeted at rare diseases see:

  • Orphanet, a database containing information on rare diseases which includes a directory of patients’ organisations registered in Europe.
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.