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Orphan designation

On 20 September 2010, orphan designation (EU/3/10/777) was granted by the European Commission to Orphatec Pharmaceuticals GmbH, Germany, for cyclic pyranopterin monophosphate for the treatment of molybdenum-cofactor deficiency type A.

In January 2013, Orphatec Pharmaceuticals GmbH changed name to Colbourne Pharmaceuticals GmbH.

The sponsorship was transferred to Alexion Europe SAS, France, in March 2013.

For a list of the administrative updates to this public summary of opinion, please refer to the PDF document below.

What is molybdenum cofactor deficiency type A?

Molybdenum cofactor deficiency is a genetic disease caused by the lack of a substance called ‘molybdenum cofactor’. This is a molecule that is needed for the production of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Without these enzymes, the toxic chemical sulfite builds up in the brain

In the ‘type A’ form of the disease, the absence of molybdenum cofactor is due to patients lacking a substance called ‘cyclic pyranopterin monophosphate’. The body needs this substance to make molybdenum cofactor.

The symptoms of molybdenum-cofactor deficiency appear from birth and include seizures (fits), intracranial haemorrhage (bleeding in the brain), increased reflex responses and feeding problems.

Molybdenum-cofactor deficiency type A is a very severe and life-threatening condition, which is associated with poor overall survival, with death usually occurring within the first few months of life.

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

At the time of designation, molybdenum cofactor deficiency type A affected less than 0.01 people in 10,000 per year in the European Union (EU)*. This is equivalent to a total of fewer than 500 people per year, which was considered to be below the threshold for orphan designation. This is based on the information provided by the sponsor and the 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. At the time of designation, this represented a population of 506,300,000 (Eurostat 2010).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of molybdenum-cofactor deficiency type A. Treatments aimed at relieving the symptoms of the disease, such as using medicines to control seizures, and at providing general support to help care for the patients.

How is this medicine expected to work?

To make this medicine, cyclic pyranopterin monophosphate is extracted from bacteria and then purified. It is expected to work by providing molybdenum-cofactor-deficiency-type-A patients with the substance that they are lacking. The body is expected to use this medicine to produce molybdenum cofactor, allowing it to start producing molybdenum-dependent enzymes and reducing the levels of sulfite in the brain.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of cyclic pyranopterin monophosphate in experimental models was ongoing.

At the time of submission of the application for orphan designation, three patients had been treated with cyclic pyranopterin monophosphate.

At the time of submission, cyclic pyranopterin monophosphate was not authorised anywhere in the EU for the treatment of molybdenum-cofactor deficiency type A. Orphan designation of cyclic pyranopterin monophosphate had been granted in United States for the treatment of this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 2 June 2010 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.

Key facts

Product details for <p>Cyclic pyranopterin monophosphate</p>
Active substanceCyclic pyranopterin monophosphate
Medicine Name
Disease/conditionTreatment of molybdenum-cofactor deficiency type A
Date of decision20/09/2010
Orphan decision numberEU/3/10/777

Review of designation

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

Sponsor’s contact details:

Alexion Europe SAS
1-15, avenue Edouard Belin
92500 Rueil-Malmaison
Tel. +33 1 47 32 36 21
Fax +33 1 47 10 24 46

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.