EU/3/16/1810: Orphan designation for the treatment of Alström syndrome

Alström syndrome is a genetic disease that causes a variety of problems in several organs across the body. Signs and symptoms first occur in infancy and include vision impairment, hearing loss, obesity, diabetes, and problems with the heart, liver, kidneys and lungs.

The condition is caused by a defect in a gene (ALMS1), which produces a protein thought to play a role in the function and growth of many types of cells. Alström syndrome is inherited recessively (meaning that both parents must have the defective gene for a child to have the condition).

The condition is debilitating due to its wide-ranging effects and life threatening because it can lead to multiple organ failure. Life expectancy is lower than normal, with patients rarely living beyond 50 years.

At the time of designation, Alström syndrome affected approximately 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of around 500 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based 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 513,700,000 (Eurostat 2016).

At the time of orphan designation, there were no satisfactory treatments for Alström syndrome authorised in the EU. There were clinical guidelines for managing all the complications of this disease.

This medicine works via two receptors that are involved in several body processes and are found in organs such as the pancreas, brain, heart, kidneys, liver and lungs. Early studies indicate that the medicine may have an effect in reducing some signs and symptoms of the disease including those linked to diabetes and scarring of the liver.

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 Alström syndrome were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for Alström syndrome 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 8 December 2016 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.