EU/3/08/541

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Orphan designation

On 8 May 2008, orphan designation (EU/3/08/541) was granted by the European Commission to Clinuvel UK Limited, United Kingdom, for [Nle4, D-Phe7]-alfa-melanocyte stimulating hormone for the treatment of erythropoietic protoporphyria.

What is erythropoietic protoporphyria?

Porphyrias are a group of disorders of certain enzymes (proteins that speed up the conversion of certain substances into other substances) responsible for the chemical steps of heme production. Heme is normally present in the body and it is the basic component of haemoglobin, the molecule that carries oxygen in the blood. It is mainly found in the blood, bone marrow, and liver. The signs and symptoms of the disorder vary depending on which chemical step of the heme production that is affected. The porphyrias can be classified according to different criteria, such as the main location of the abnormal enzyme, the leading symptom, or the characteristics of its clinical presentation.

Erythropoietic protoporphyria is characterised by the involvement of blood forming organs, skin and the liver. In erythropoietic protoporphyria there is a lack of one enzyme important for the heme production, and therefore the the red blood cells accumulate substances that they normally do not accumulate. These substances also accumulate in the liver and in the skin. When skin is exposed to sunlight the accumulated substances react with light and cause symptoms such as burning sensation, itching, red skin and ulceration.

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

At the time of designation, erythropoietic protoporphyria affected less than 0.2 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 10,000 people, and is below the threshold for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and 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. This represents a population of 502,282,000 (Eurostat 2008).

What treatments are available?

No satisfactory methods exist that were authorised at the time of application. Avoidance of sunlight or strong light altogether is essential to manage the disease.

How is this medicine expected to work?

The product, [Nle4, D-Phe7] alpha-melanocyte stimulating hormone is a synthetic product with similar properties to the naturally occurring alpha-melanocyte stimulating hormone or melanotropin. This hormone is a naturally occurring hormone that stimulates the production of eumelanin in skin cells. Eumelanin, the natural black-brown pigment in the skin, has the capacity to protect cells from irradiation (sun exposure) and its damaging effects on the cellular genetic material. It is thought that the product stimulates eumelanin production in the skin cells and stops cellular damage by inhibiting (blocking) sun light’s interaction with the accumulated substances that are found in the skin of patients with erythropoietic protoporphyria.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, clinical trials in patients with erythropoietic protoporphyria were ongoing.

[Nle4, D-Phe7] alpha-melanocyte stimulating hormone was not authorised anywhere worldwide for erythropoietic protoporphyria or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 4 March 2008 a positive opinion recommending the grant of the above-mentioned 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 Community) 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.

Key facts

Product details for <p>[Nle4, D-Phe7]-alfa-melanocyte stimulating hormone</p>
Active substance[Nle4, D-Phe7]-alfa-melanocyte stimulating hormone
Medicine NameScenesse
Disease/conditionTreatment of erythropoietic protoporphyria
Date of decision08/05/2008
OutcomePositive
Orphan decision numberEU/3/08/541

Review of designation

During its meeting of 11 to 13 November 2014, the Committee for Orphan Medicinal Products (COMP) reviewed the designation EU/3/08/541 for Scenesse (afamelanotide)1 as an orphan medicinal product for the treatment of erythropoietic protoporphyria. The COMP assessed whether, at the time of marketing authorisation, the medicinal product still met the criteria for orphan designation. The Committee looked at the seriousness and prevalence of the condition, and the existence of other methods of treatment. The COMP recommended that the orphan designation of the medicine be maintained2.


1Previously known as [Nle4, D-Phe7]-alfa-melanocyte stimulating hormone.

2The maintenance of the orphan designation at time of marketing authorisation would, except in specific situations, give an orphan medicinal product 10 years of market exclusivity in the EU. This means that in the 10 years after its authorisation similar products with a comparable therapeutic indication cannot be placed on the market.

Life-threatening or long-term debilitating nature of the condition

The Committee for Medicinal Products for Human Use (CHMP) recommended the authorisation of Scenesse for:

‘prevention of phototoxicity in adult patients with erythropoietic protoporphyria (EPP)’.

This falls within the scope of the product’s designated orphan indication, which is: ‘treatment of erythropoietic protoporphyria’.

The COMP concluded that there had been no change in the seriousness of the condition since the orphan designation in 2008. Erythropoietic protoporphyria remains a condition that is debilitating in the long term or life threatening, particularly due to the skin problems, anaemia (low levels of red blood cells) and liver complications.

Prevalence of the condition

The sponsor provided updated information on the prevalence of erythropoietic protoporphyria based on data from the scientific literature.

On the basis of the information provided by the sponsor, the COMP concluded that the prevalence of erythropoietic protoporphyria remains below the ceiling for orphan designation, which is 5 people in 10,000. At the time of the review of the orphan designation, the prevalence was estimated to be less than 0.2 people in 10,000. This is equivalent to fewer than 10,000 people in the EU.

Existence of other methods of treatment

The COMP noted that, at the time of the review of the orphan designation, no treatments were authorised in the EU for patients with erythropoietic protoporphyria.

Conclusions

Based on the data submitted and the scientific discussion within the COMP, the COMP considered that Scenesse still meets the criteria for designation as an orphan medicinal product and that it should remain in the Community Register of Orphan Medicinal Products.

Related information

Sponsor's contact details

Clinuvel UK Limited
C/ - Reed Smith
Broadgate Tower, third floor
20 Primrose Street
London EC2A 2RS
United Kingdom
Tel. +44 20 3116 3000
Fax +44 20 3116 3999
E-mail: mail@clinuvel.com

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe;
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.