EU/3/14/1285 - orphan designation for treatment of familial benign chronic pemphigus (Hailey-Hailey disease)

afamelanotide

Overview

On 4 July 2014, orphan designation (EU/3/14/1285) was granted by the European Commission to Clinuvel UK Limited, United Kingdom, for afamelanotide for the treatment of familial benign chronic pemphigus.

The sponsorship was transferred to Clinuvel Europe Limited, Ireland, in March 2019.

What is familial benign chronic pemphigus?

Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is an inherited disease marked by painful sores and blisters in areas of the skin exposed to friction and also, rarely, in other surfaces such as the lining inside the mouth and throat.

The disease is inherited as a dominant trait (which means that it can be passed on to a child from only one parent) and is caused by a mutation (defect) in a gene responsible for a protein that helps glue together the cells of the epidermis (the outer skin). This causes skin cells to separate from each other, causing blisters that turn into sores. Symptoms of the disease normally first appear in the third and fourth decades of life.

Familial benign chronic pemphigus is a long-term debilitating disease because of the recurring painful blisters that can become infected and reduce the patient's quality of life.

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

At the time of designation, familial benign chronic pemphigus affected not more than 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 10,000 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).

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*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 511,100,000 (Eurostat 2014).

What treatments are available?

At the time of the application for orphan designation, no satisfactory methods of treatment were authorised in the EU for familial benign chronic pemphigus. Patients' symptoms were managed with medicines such as corticosteroids applied to the sores and antibiotics for infection.

How is this medicine expected to work?

Afamelanotide is a copy of the natural hormone ?-melanocyte stimulating hormone (?-MSH), which stimulates production of melanin, the pigment that gives the skin its colour. Afamelanotide has been designed to last longer in the body than normal ?-MSH. The way it acts on the disease is not clearly understood but it is known to have effects on inflammation and antioxidant properties which may assist the healthy development of the protective outer layers of skin, thus preventing the formation of skin lesions observed in Hailey-Hailey disease.

What is the stage of development of this medicine?

The effects of afamelanotide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with afamelanotide in patients with familial benign chronic pemphigus were ongoing.

At the time of submission, afamelanotide was not authorised anywhere in the EU for familial benign chronic pemphigus 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 14 May 2014 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/3/14/1285: Public summary of opinion on orphan designation: Afamelanotide for the treatment of familial benign chronic pemphigus (Hailey-Hailey disease)

AdoptedReference Number: EMA/COMP/317253/2014

Key facts

• Active substance:
  afamelanotide
• Intended use:
  Treatment of familial benign chronic pemphigus (Hailey-Hailey disease)
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/14/1285
• Date of designation:
  04/07/2014
• Sponsor:

  Clinuvel Europe Limited;

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.