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Orphan designation

On 8 May 2008, orphan designation (EU/3/08/545) 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 porphyria.

What is congenital erythropoietic porphyria?

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, and the characteristics of its clinical presentation.

Congenital erythropoietic porphyria is one form of inherited porphyria where the blood forming organs and the skin are affected. In congenital erythropoietic porphyria, there is an in-inborn lack of one enzyme important for the heme production, and therefore the red blood cells accumulate substances that they normally do not accumulate. These substances damage red blood cells and cause anaemia. These substances are also accumulated in the skin. When skin is exposed to sunlight the accumulated substances react with light and cause severe skin damage, inducing formation of vesicles, ulceration, thinning and disfigurement of the skin.

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

At the time of designation, congenital erythropoietic porphyria affected less than 0.01 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 500 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.

Strict avoidance of sunlight or strong light altogether is essential to manage the disease, as well as avoidance of mechanical trauma and meticulous skin care.

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 eumelanine in skin cells. Eumelanine, 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 congenital erythropoietic porphyria.

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 congenital erythropoietic porphyria were ongoing.

[Nle4, D-Phe7] alpha-melanocyte stimulating hormone was not authorised anywhere worldwide for congenital erythropoietic porphyria 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 Name
Disease/conditionTreatment of congenital erythropoietic porphyria
Date of decision08/05/2008
Orphan decision numberEU/3/08/545

Review of designation

Sponsor's contact details

Clinuvel UK Limited
Devonshire House
60 Goswell Road
London EC1M 7AD
United Kingdom
Tel. +44 (0)20 3116 3000
Fax +44 (0)20 3116 3999

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.