EU/3/18/1997

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Orphan designation

On 21 March 2018, orphan designation (EU/3/18/1997) was granted by the European Commission to QRC Consultants Ltd, United Kingdom, for miransertib for the treatment of Proteus syndrome.

What is Proteus syndrome?

Proteus syndrome is a genetic condition where patients’ organs and tissues grow out of proportion to the rest of the body. The disease usually starts in infancy and can involve any tissue or organ. The overgrowth is usually asymmetric, which means that it affects the right and left sides of the body differently.

Proteus syndrome is a long-term debilitating and life-threatening condition because of bone deformities and problems with lung, heart, kidney and gut function.

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

At the time of designation, Proteus syndrome affected less than 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 500 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).


*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).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU to treat Proteus syndrome. Treatment of patients consisted mainly of surgery to control the overgrowth.

How is this medicine expected to work?

Miransertib is expected to work by blocking an enzyme known as AKT1. This enzyme is involved in stimulating cells to grow excessively in patients with Proteus syndrome. By blocking AKT1, the medicine is expected to help control the growth of cells and slow down the overgrowth of tissues in patients with Proteus syndrome.

What is the stage of development of this medicine?

The effects of miransertib have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with miransertib in patients with Proteus syndrome were ongoing.

At the time of submission, miransertib was not authorised anywhere in the EU for Proteus syndrome. Orphan designation of miransertib had been granted in the United States for Proteus syndrome.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 15 February 2018 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>Miransertib</p>
Active substanceMiransertib
Medicine Name
Disease/conditionTreatment of Proteus syndrome
Date of decision21/03/2018
OutcomePositive
Orphan decision numberEU/3/18/1997

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

QRC Consultants Ltd
Silvaco Technology Centre
Compass Point
St Ives
Cambridgeshire PE27 5JL
United Kingdom
Tel. +44 (0)1480 309 349
E-mail: enquiries@qrcc.co.uk

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.