EU/3/17/1910 - orphan designation for treatment of tuberous sclerosis

Sirolimus

Overview

On 23 August 2017, orphan designation (EU/3/17/1910) was granted by the European Commission to Best Regulatory Consulting Ltd, United Kingdom, for sirolimus for the treatment of tuberous sclerosis.

The medicinal product has been authorised in the EU as Hyftor since 15 May 2023.

What is tuberous sclerosis?

Tuberous sclerosis is a genetic disease that causes growth of benign (non-cancerous) tumours in different organs of the body, including the brain, lungs, heart, kidneys, skin and eyes. The symptoms and severity of the disease vary greatly from patient to patient. Depending on where the tumours are located, symptoms may include epilepsy, learning difficulties, skin abnormalities and kidney problems.

Tuberous sclerosis is a long-term debilitating disease that can be life threatening in patients with severe symptoms, who may develop severe learning disability, uncontrollable seizures (fits) and kidney failure.

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

At the time of designation, tuberous sclerosis affected approximately 1 in 10,000 people in the European Union (EU). This was 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 isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

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* 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 515,700,000 (Eurostat 2017).

What treatments are available?

At the time of designation, the medicine Votubia (everolimus) was authorised in the EU for the treatment of tuberous sclerosis.

The sponsor has provided sufficient information to show that sirolimus might be of significant benefit for patients with tuberous sclerosis because early studies show that the medicine, which is to be applied to the skin, has an improved formulation compared with similar products made in hospital pharmacies and may have greater benefit. 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?

Sirolimus works by blocking an enzyme called 'mammalian target of rapamycin' (mTOR), which has increased activity in patients with tuberous sclerosis. Since mTOR is involved in the control of cell division and the growth of blood vessels, sirolimus applied to the skin is expected to reduce the growth of skin tumours associated with tuberous sclerosis.

Sirolimus is already authorised in the EU for the prevention of organ rejection in patients undergoing kidney transplantation.

What is the stage of development of this medicine?

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with tuberous sclerosis were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for tuberous sclerosis. Orphan designation of the medicine had been granted in the EU and 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 13 July 2017 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.

EU/3/17/1910: Public summary of opinion on orphan designation: Sirolimus for the treatment of tuberous sclerosis

AdoptedReference Number: EMA/507442/2017

Key facts

• Active substance:
  Sirolimus
• Medicine name:
  -
• Intended use:
  Treatment of tuberous sclerosis
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/17/1910
• Date of designation:
  23/08/2017
• Sponsor:

  Plusultra Pharma GmbH; Fritz-Vomfelde-Strasse 36; Loerick; 40547 Duesseldorf ; North Rhine-Westphalia; Germany; Email: [e-mail]

Review of designation

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

More information is available in the .