EU/3/19/2192: Orphan designation for the treatment of Bardet-Biedl syndrome

Bardet Biedl syndrome is a genetic disorder caused by mutations (changes) in genes responsible for cilia (hair-like structures on cells needed for them to function properly). In Bardet Biedl syndrome, cilia do not work properly leading to variable symptoms including blindness, obesity, reduced kidney function, hormone abnormalities, learning difficulties and polydactyly (extra fingers or toes). The condition is debilitating in the long-term because of the development of visual impairment, speech and learning difficulties, kidney failure and other serious symptoms.

At the time of designation, Bardet Biedl syndrome affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 people¹, 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).

¹Disclaimer: 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 518,400,000 (Eurostat 2019).

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of Bardet Biedl syndrome. Patients mainly received supportive treatment such as management of symptoms as they occur, physical therapy, speech therapy, diet and exercise.

Setmelanotide is a ‘melanocortin-4 receptor (MC4R) agonist’. This means that it triggers receptors (targets) on nerve cells that are important for decreasing appetite and increasing the body’s energy use. Patients with Bardet Biedl syndrome have problems regulating body weight, leading to obesity. By triggering these receptors, setmelanotide is expected to enable patients to better control their weight.

The effects of setmelanotide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with setmelanotide in patients with Bardet Biedl syndrome were ongoing.

At the time of submission, setmelanotide was not authorised anywhere in the EU for the treatment of Bardet Biedl syndrome or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 18 July 2019, 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.