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Orphan designation

On 14 September 2012, orphan designation (EU/3/12/1036) was granted by the European Commission to Novartis Europharm Limited, United Kingdom, for trans-4-[4-[5-[[6-(trifluoromethyl)-3-pyridinyl]amino]-2-pyridinyl]phenyl] cyclohexane acetic acid sodium salt for the treatment of familial chylomicronaemia syndrome (type-I hyperlipoproteinaemia).

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is familial chylomicronaemia syndrome?

Familial chylomicronaemia syndrome (also known as type-I hyperlipoproteinaemia) is an inherited disease where patients have abnormally high levels of some types of fat called triglycerides in their blood. The excess fat accumulates in organs such as the spleen and liver, which become abnormally enlarged. Fat accumulation can also cause repeated bouts of pancreatitis (inflammation of the pancreas) and xanthomas (formation of yellow fatty deposits just under the skin, generally around joints).

The cause of the disease is often the body’s failure to produce enough quantities of an enzyme called lipoprotein lipase, which is involved in breaking down fats from the diet.

Familial chylomicronaemia syndrome is a debilitating disease that may be life-threatening because the bouts of pancreatitis can be severe and sometimes fatal.

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

At the time of designation, familial chylomicronaemia syndrome 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 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 509,000,000 (Eurostat 2012).

What treatments are available?

At the time of designation, there were no satisfactory methods authorised in the EU for the treatment of familial chylomicronaemia syndrome. Patients were treated using dietary restrictions (avoiding foods that contain a high level of fat). Patients were also advised to avoid the use of substances known to increase the level of triglycerides in the blood, such as alcohol, diuretics or oestrogens.

How is this medicine expected to work?

This medicine is expected to work by blocking the action of an enzyme called ‘diacylglycerol acyltransferase 1’. This enzyme is found in high levels in the intestine and fat tissue, where it is normally involved in producing triglycerides that are then released into the blood stream. By blocking this enzyme, the medicine is expected to decrease the level of triglycerides in the blood, thereby helping to control the symptoms of the disease.

What is the stage of development of this medicine?

The effects of trans-4-[4-[5-[[6-(trifluoromethyl)-3-pyridinyl]amino]-2-pyridinyl]phenyl] cyclohexane acetic acid sodium salt have been evaluated in experimental models. At the time of submission of the application for orphan designation, clinical trials with the medicine including patients with familial chylomicronaemia syndrome were ongoing. At the time of submission, the medicine was not authorised anywhere in the EU for familial chylomicronaemia syndrome. Orphan designation of this medicine had been granted in the United States of America for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 11 July 2012 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>Trans-4-[4-[5-[[6-(trifluoromethyl)-3-pyridinyl]amino]-2-pyridinyl]phenyl] cyclohexane acetic acid sodium salt</p>
Active substanceTrans-4-[4-[5-[[6-(trifluoromethyl)-3-pyridinyl]amino]-2-pyridinyl]phenyl] cyclohexane acetic acid sodium salt
Medicine Name
Disease/conditionTreatment of familial chylomicronaemia syndrome (type-I hyperlipoproteinaemia)
Date of decision14/09/2012
Orphan decision numberEU/3/12/1036

Review of designation

Sponsor’s contact details

Novartis Europharm Limited
Frimley Business Park
Camberley GU16 7SR
United Kingdom
Tel. +41 61 324 11 11 (Switzerland)

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.