EU/3/10/823 - orphan designation for treatment of familial chylomicronaemia

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

At the time of designation, familial chylomicronaemia affected less than 0.1 in 10,000 people in the European Union (EU). This is equivalent to fewer than 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 506,300,000 (Eurostat 2010).

At the time of designation, there were no satisfactory methods authorised in the EU for the treatment of familial chylomicronaemia. 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.

Lomitapide is expected to work by blocking the action of 'microsomal triglyceride-transfer protein'. This protein is located within the liver and the gut cells, where it is involved in assembling fatty substances into larger particles that are then released into the blood stream. By blocking this protein, the medicine is expected to decrease the level of fats in the blood, thereby helping to control the symptoms of the disease.

The effects of lomitapide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with lomitapide in patients with familial chylomicronaemia were planned.

At the time of submission, lomitapide was not authorised anywhere in the EU for familial chylomicronaemia or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 7 October 2010 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.