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Orphan designation

On 22 February 2018, orphan designation (EU/3/18/1986) was granted by the European Commission to UCB Biopharma SPRL, Belgium, for seletalisib for the treatment of activated phosphoinositide 3-kinase delta syndrome.

What is activated phosphoinositide 3-kinase delta syndrome?

Activated phosphoinositide 3-kinase delta syndrome is an inherited disorder where the patient is unable to fight infections because the immune system (the body’s natural defences) does not work properly.

It is caused by defects in the gene which makes a protein called phosphoinositide 3-kinase delta. This protein is essential for the development of B and T cells, white blood cells that play a key role in the immune system. The defect makes phosphoinositide 3-kinase delta overactive, which interferes with the normal development of B and T cells and their ability to fight infections. Patients with the disorder are highly susceptible to infections. The main symptoms usually occur in the first two years of life, and include repeated lung infections and a failure to grow and develop normally.

Activated phosphoinositide 3-kinase delta syndrome is a long-term debilitating and life-threatening condition due to repeated lung infections that can lead to bronchiectasis (enlargement and inflammation of part of the airways) as well a reduction in the white blood cell count.

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

At the time of designation, activated phosphoinositide 3-kinase delta syndrome 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 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 of the review of the orphan designation, no satisfactory treatments were authorised in the EU for patients affected by activated phosphoinositide 3-kinase delta syndrome. The main treatment included medicines to help control infection, such as immunoglobulin replacement therapy.

How is this medicine expected to work?

The medicine attaches to phosphoinositide 3-kinase delta and blocks its action. This reduces the excessive activity of the protein, which is expected to help to restore normal development of B and T cells and their ability to fight infections.

What is the stage of development of this medicine?

The effects of seletalisib have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with seletalisib in patients with activated phosphoinositide 3-kinase delta syndrome were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for activated phosphoinositide 3-kinase delta syndrome. 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 18 January 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>Seletalisib</p>
Active substanceSeletalisib
Medicine Name
Disease/conditionTreatment of activated phosphoinositide 3-kinase delta syndrome
Date of decision22/02/2018
Orphan decision numberEU/3/18/1986

Review of designation

Sponsor’s contact details

UCB Biopharma SPRL
Allée de la Recherche 60
1070 Brussels
Tel. +32-2-559 7481

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.