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Orphan designation

On 17 July 2013, orphan designation (EU/3/13/1147) was granted by the European Commission to Serendex ApS, Denmark, for granulocyte-macrophage colony-stimulating factor for the treatment of pulmonary alveolar proteinosis.

In August 2014, Serendex ApS changed name to Serendex Pharmaceuticals A/S.

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

What is pulmonary alveolar proteinosis?

Pulmonary alveolar proteinosis is a disease of the lungs, where certain lipoproteins (molecules containing a fat and a protein) build up in the air sacs (or alveoli) of the lungs making it difficult to breathe. The exact cause of the condition is unknown, but it is believed to involve a malfunctioning of the immune system, leading to high levels of antibodies against granulocyte-macrophage colony-stimulating factor, a messenger molecule involved in keeping the alveoli clear of unwanted materials.

Pulmonary alveolar proteinosis is a long-term debilitating disease mainly because it causes progressive breathlessness and reduced lung function, which can lead to the need for supplementary oxygen through a breathing mask and to recurrent lung infections.

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

At the time of designation, pulmonary alveolar proteinosis affected less than 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 5,000 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).

*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. At the time of designation, this represented a population of 512,200,000 (Eurostat 2013).

What treatments are available?

At the time of designation, treatment for pulmonary alveolar proteinosis involved washing out the lipoprotein substance from the lungs, in a procedure known as ‘whole alveolar lavage’.

The sponsor has provided sufficient information to show that granulocyte-macrophage colony-stimulating factor might be of significant benefit for patients with pulmonary alveolar proteinosis because studies show that it might reduce the need for whole alveolar lavage. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

How is this medicine expected to work?

In patients with pulmonary alveolar proteinosis the body’s natural granulocyte-macrophage colony-stimulating factor is prevented from working properly by high levels of antibodies against it. When inhaled by a patient (using a nebuliser), the medicine is expected to substitute for the natural factor, thereby helping to keep the alveoli clear of unwanted materials.

What is the stage of development of this medicine?

The sponsor has provided data in experimental models and patients from the published literature to support its application for orphan designation.

At the time of submission of the application for orphan designation, no clinical trials with granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis had been started.

At the time of submission, granulocyte-macrophage colony-stimulating factor was not authorised anywhere in the EU for pulmonary alveolar proteinosis. Orphan designation of granulocyte-macrophage colony-stimulating factor had been granted in the United States for pulmonary alveolar proteinosis.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 13 June 2013 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>Granulocyte-macrophage colony-stimulating factor</p>
Active substanceGranulocyte-macrophage colony-stimulating factor
Medicine Name
Disease/conditionTreatment of pulmonary alveolar proteinosis
Date of decision17/07/2013
Orphan decision numberEU/3/13/1147

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

Serendex Pharmaceuticals A/S
Slotsmarken 17,
2970 Hørsholm
Tel. +45 7930 1417

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.