EU/3/19/2192 - orphan designation for treatment of Bardet-Biedl syndrome

Setmelanotide

Overview

On 21 August 2019, orphan designation EU/3/19/2192 was granted by the European Commission to TMC Pharma (EU) Limited, Ireland, for setmelanotide for the treatment of Bardet Biedl syndrome.

The medicinal product for treatment of Bardet Biedl syndrome has been authorised in the EU as Imcivree since 2 September 2022.

What is 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.

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

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).

What treatments are available?

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.

How is this medicine expected to work?

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.

What is the stage of development of this medicine?

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.

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.

EU/3/05/269: Public summary of positive opinion for orphan designation of setmelanotide for the treatment of Bardet Biedl syndrome

Reference Number: EMADOC-628903358-1304

Key facts

• Active substance:
  Setmelanotide
• Intended use:
  Treatment of Bardet-Biedl syndrome
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/19/2192
• Date of designation:
  21/08/2019
• Sponsor:

  Rhythm Pharmaceuticals Netherlands B.V.

Review of designation

The Committee for Orphan Medicinal Products reviewed the orphan designation of Imcivree at the time of marketing authorisation, and confirmed that the orphan designation should be maintained. More information is available in the Imcivree : EPAR - Orphan maintenance assessment report (post authorisation).