Overview

On 31 July 2018, orphan designation (EU/3/18/2050) was granted by the European Commission to AstraZeneca AB, Sweden, for selumetinib for the treatment of neurofibromatosis type 1.

The medicinal product has been authorised in the EU as Koselugo since date 17 June 2021. 

Neurofibromatosis type 1 is an inherited disease in which the patient develops benign (non-cancerous) tumours along the nerves. The severity of the disease varies from patient to patient, and symptoms include pale, coffee-coloured patches, freckles in unusual places (such as the armpits, groin and under the breasts), high blood pressure, problems with the bones, eyes and nervous system, learning difficulty and short stature. Patients can also develop cancer, including cancer of the optic nerve (the nerve that sends signals from the eye to the brain).

The disease is caused by mutations (changes) in a gene called NF1, which leads to uncontrolled growth of cells in the nervous system.

Neurofibromatosis type 1 is a debilitating disease because of the damage caused by the tumours. The disease may also be life threatening due to the increased risk of developing cancer.

At the time of designation, neurofibromatosis type 1 affected approximately 3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 155,000 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 28), Norway, Iceland and Liechtenstein. This represents a population of 517,400,000 (Eurostat 2018).

At the time of designation, there were no treatments authorised in the EU for neurofibromatosis type 1. Surgery was used to remove tumours, and chemotherapy (medicines for treating cancer) was used for cancers caused by the condition.

Selumetinib blocks enzymes called MEK1/2 which are involved in stimulating cells to grow. MEK1/2 are overactive in certain types of cancer, which makes cells grow uncontrollably. By blocking these enzymes, the medicine is expected to slow down growth of the tumour cells in neurofibromatosis type 1.

The effects of selumetinib have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with selumetinib in patients with neurofibromatosis type 1 were ongoing.

At the time of submission, selumetinib was not authorised anywhere in the EU for neurofibromatosis type 1. Orphan designation of the medicine had been granted in the United States for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 21 June 2018 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.

EU/3/18/2050: Public summary of opinion on orphan designation: Selumetinib for the treatment of neurofibromatosis type 1

Key facts

Active substance
Selumetinib
Intended use
Treatment of neurofibromatosis type 1
Orphan designation status
Positive
EU designation number
EU/3/18/2050
Date of designation
Sponsor

AstraZeneca AB
 

Review of designation

The Committee for Orphan Medicinal Products reviewed the orphan designation of product at the time of marketing authorisation, and confirmed that the orphan designation should be maintained.

More information is available in the Koselugo : Orphan maintenance assessment report.

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:

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:

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