Overview

On 28 July 2015, orphan designation (EU/3/15/1526) was granted by the European Commission to Ultragenyx UK Limited, United Kingdom, for triheptanoin for the treatment of carnitine palmitoyltransferase II deficiency.

The sponsorship was transferred first to Ultragenyx Netherlands B.V., the Netherlands, in February 2019 and subsequently to Ultragenyx Germany GmbH, Germany, in February 2020.

The sponsor’s address was updated in November 2020.

Carnitine palmitoyltransferase II deficiency is an inherited disease caused by the lack of an enzyme called CPT II. CPT II is one of the enzymes needed by the mitochondria (the energy-producing components within cells) to break down certain fatty acids in order to generate energy. If this enzyme is lacking, cells cannot function normally causing a wide range of signs and symptoms including hypoglycaemia (low blood sugar levels), exercise-induced muscle pain and weakness, and damage to the liver, brain, nerves and heart.

The condition is chronically debilitating and life-threatening, particularly since it causes hypoglycaemia and damage to the nerves and various organs.

At the time of designation, carnitine palmitoyltransferase II deficiency affected approximately 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 5,000 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).

*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 512,900,000 (Eurostat 2015).

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of carnitine palmitoyltransferase II deficiency. Treatment of patients primarily involved restriction of dietary fat, as well as increased frequency of food intake to avoid overloading the body with fatty acids. However, these dietary regimens were of unproven value or only partially successful.

Triheptanoin is a synthetic (artificially produced) fat, which is broken down in the liver into substances that can be used to generate energy without the need for CPT II. By bypassing the need for CPT II, this medicine is expected to restore normal energy generation and ultimately improve the overall outcome of the patients.

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 triheptanoin in patients with carnitine palmitoyltransferase II deficiency were ongoing.

At the time of submission, triheptanoin was not authorised anywhere in the EU for carnitine palmitoyltransferase II deficiency. 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 June 2014 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/3/15/1526: Public summary of opinion on orphan designation: Triheptanoin for the treatment of carnitine palmitoyltransferase II deficiency

AdoptedReference Number: EMA/COMP/432848/2015

English (EN) (111.94 KB - PDF)

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Key facts

Active substance
Triheptanoin
Intended use
Treatment of carnitine palmitoyltransferase II deficiency
Orphan designation status
Positive
EU designation number
EU/3/15/1526
Date of designation
Sponsor

Ultragenyx Germany GmbH
 

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

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:

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:

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