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.
- 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 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. This represents a population of 509,000,000 (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.
|Name||Language||First published||Last updated|
|EU/3/13/1147: Public summary of opinion on orphan designation: Granulocyte-macrophage colony-stimulating factor for the treatment of pulmonary alveolar proteinosis||(English only)||21/08/2013|
|Active substance||Granulocyte-macrophage colony-stimulating factor|
|Disease/condition||Treatment of pulmonary alveolar proteinosis|
|Date of decision||17/07/2013|
|Orphan decision number||EU/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:
Slotsmarken 12, 1
Tel. +45 281 498 49
Fax +45 435 837 69
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.