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Orphan designation

On 16 February 2006, orphan designation (EU/3/06/350) was granted by the European Commission to Octapharma (IP) Limited, United Kingdom, for alpha-1 proteinase inhibitor for the treatment of emphysema secondary to congenital alpha-1 antitrypsin deficiency.

What is emphysema secondary to congenital alpha-1 antitrypsin deficiency?

Congenital alpha-1 antitrypsin deficiency is an inherited disease characterised by reduced levels in the blood of the substance alpha-1 antitrypsin (AAT). This substance is a protein that is normally made by the liver and reaches other organs (such as the lungs) after being released into the blood circulation. Alpha-1 antitrypsin has the role of inactivating some substances, such as elastase, normally produced by the body. The action of elastase is to destroy certain molecules that form the lung tissue. AAT controls this action of elastase. If AAT is missing then the action of elastase is no longer opposed. In the long term, this may damage the lungs and cause a lung disease where air is abnormally accumulated in the tissue around the alveoli (the small cells containing the air in the lungs). Lung disease due to this deficiency is also called "hereditary emphysema" or emphysema secondary to congenital alpha-1 antitryspin deficiency. The condition is chronically debilitating and life-threatening.

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

At the time of designation, emphysema secondary to congenital alpha-1 antitrypsin deficiency affected approximately 2.5 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 115,000 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 25), Norway, Iceland and Liechtenstein. This represents a population of 459,700,000 (Eurostat 2004).

What treatments are available?

Therapy for lung disease due to AAT deficiency includes the use of medicines to help breathing, or to help to clear mucus. Lung infections require treatment with antibiotics. Human AAT to be administered intravenously is authorised for replacement therapy of this condition. Oxygen may also be given in the more advanced stages and lung transplantation is used as a last resource.
Satisfactory argumentation has been submitted by the sponsor to justify the assumption that alpha-1 proteinase inhibitor might be of potential significant benefit for the treatment of emphysema secondary to congenital alpha-1 antitrypsin deficiency because it might represent a contribution to patient care. This assumption will have to be confirmed at the time of marketing authorisation. This will be necessary to maintain the orphan status.

How is this medicine expected to work?

Alpha-1 proteinase inhibitor (also known as alpha-1 antitrypsin) is derived from collected human blood. The administration of the alpha-1 proteinase inhibitor would reach the lungs where it would restore the level of AAT. In this way the alpha-1 proteinase inhibitor could oppose the effects of elastase. This action is expected to slow down the worsening of the lung disease.

What is the stage of development of this medicine?

The effects of alpha-1 proteinase inhibitor were evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials in patients with emphysema secondary to congenital alpha-1 antitrypsin deficiency were initiated.
Alpha-1 proteinase inhibitor was not authorised anywhere worldwide for emphysema secondary to congenital alpha-1 antitrypsin deficiency 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 11 January 2006 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>Alpha-1 proteinase inhibitor</p>
Active substanceAlpha-1 proteinase inhibitor
Medicine Name
Disease/conditionTreatment of emphysema secondary to congenital alpha-1 antitrypsin deficiency
Date of decision15/02/2006
Orphan decision numberEU/3/06/350

Review of designation

Sponsor’s contact details:

Octapharma (IP) Limited
The Zenith Building
26 Spring Gardens
Manchester M2 1AB
United Kingdom
Telephone: +44 161 837 3770
Telefax: +44 161 837 3799

Patients’ associations contact points:

RCSI Building
Beaumont Hospital
Dublin 9
Telephone: +353 1 45 24 341
Telefax: +353 1 80 93 765

Asociación Española para el Déficit de Alfa 1 Antitripsina
Camino El Pato, 1
Batería Colorada,
Chiclana CP
11130 Cádiz
Telephone: +34 956 537 186
Telefax: +34 956 537 186

Aplha1 - Deutschland e.V.
Der Vorstand
Wienner Weg 4
50858 Köln
Telephone: +49 02 21 500 75 35