EU/3/17/1959 - orphan designation for treatment of tuberous sclerosis

Cannabidiol

Overview

On 17 January 2018, orphan designation (EU/3/17/1959) was granted by the European Commission to GW Research Ltd, United Kingdom, for cannabidiol for the treatment of tuberous sclerosis. 

Cannabidiol for treatment of tuberous sclerosis has been authorised in the EU as Epidyolex since 16 April 2021.

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 from patient to patient. Depending on where the tumours are, 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 52,000 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 certain tumours caused by tuberous sclerosis. Other treatments such as vigabatrin and corticotropin were used for treating seizures in patients with tuberous sclerosis.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with tuberous sclerosis because early studies have found that it reduced seizures in patients whose condition could not be controlled by anticonvulsant medicines. 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?

Cannabidiol is a substance derived from the Cannabis sativa plant. It is expected to work by reducing the activity of mTOR, a protein that is overactive in patients with tuberous sclerosis and is believed to be the cause of many, if not all, features of the disease.

Cannabidiol may also work through other targets to reduce blood supply to the tumours and tumour growth as well as targets on nerve cells to reduce or prevent seizures.

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 cannabidiol in patients with tuberous sclerosis were ongoing.

At the time of submission, cannabidiol was not authorised anywhere in the EU for tuberous sclerosis. Orphan designation of the medicine had been granted in the US for tuberous sclerosis.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 7 December 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/3/17/1959: Public summary of opinion on orphan designation: Cannabidiol for the treatment of tuberous sclerosis

AdoptedReference Number: EMA/5287/2018

Key facts

• Active substance:
  Cannabidiol
• Intended use:
  Treatment of tuberous sclerosis
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/17/1959
• Date of designation:
  17/01/2018
• Sponsor:

  Jazz Pharmaceuticals Ireland Ltd; Fifth Floor, Waterloo Exchange; Waterloo Road; Dublin 4; Ireland D04 E5W7; Tel: [phone]; E-mail: [e-mail]

Review of designation

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

More information is available in the Epidyolex : Orphan maintenance assessment report (post-authorisation).