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Orphan designation

On 24 January 2006, orphan designation (EU/3/05/345) was granted by the European Commission to Généthon, France, for lentiviral vector containing the human Wiskott Aldrich syndrome protein gene for the treatment of Wiskott Aldrich syndrome.

What is Wiskott Aldrich syndrome?

A chromosome is an organised structure of DNA (the genetic material) and protein that is found in cells of the body. In humans, the so-called X and Y-chromosomes determine the sex, but carry also other genetic information. Wiskott Aldrich syndrome is caused by an abnormality of a gene located on the X chromosome. This gene is responsible for the production of a protein, Wiskott Aldrich protein, which is part of the structure responsible for the cellular “scaffolding” enabling the shape and movement of the cells (cytoskeleton). The cytoskeleton is also fundamental for the cell to be able to capture substances or organisms (endocytosis) or for actions linked to the body’s defense system. This means that patients suffering from Wiskott Aldrich syndrome have different symptoms, depending on the cells affected, such as decrease in the number of platelets and increased bleeding, eczema, repeated infections, or increased risk for development of autoimmune diseases and tumours.
Wiskott Aldrich syndrome is chronically debilitating and life-threatening.

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

At the time of designation Wiskott Aldrich Syndrome affected approximately 0.01 in 10,000 people in the European Union (EU)*. This is based on the information provided by the sponsor and knowledge of the Committee for Orphan Medicinal Products (COMP). This is below the threshold for orphan designation which is 5 in 10,000. This is equivalent to a total of around 500 people.

* Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed based on 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?

No satisfactory methods exist that were authorised at the time of application. For a minority of patients (those at a very young age and having a compatible donor) bone marrow transplant is a therapeutic option. Medicines generally available for the complications of the disease are used in these situations.

How is this medicine expected to work?

Lentiviral vector containing the human Wiskott Aldrich syndrome protein gene is a medicinal product that uses a virus to carry the normal gene necessary for the production of the Wiskott Aldrich protein. A virus is a small organism capable of introducing genetic material into the cells. The type of virus (lentivirus) used in this medicinal product is modified in order to avoid causing any disease in humans. By replacing the abnormal gene, this product is expected to produce the Wiskott Aldrich protein and thus improve the symptoms of the patients.

What is the stage of development of this medicine?

The effects of lentiviral vector containing the human Wiskott Aldrich syndrome protein gene were evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials in patients with Wiskott Aldrich syndrome condition were initiated.
Lentiviral vector containing the human Wiskott Aldrich syndrome protein gene was not authorised anywhere worldwide for Wiskott Aldrich syndrome 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 7 December 2005 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;
  • and either the rarity of the condition (affecting not more than five in 10,000 people in the Community) or the 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 the quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.

Key facts

Product details for <p>Lentiviral vector containing the human Wiskott Aldrich Syndrome Protein gene</p>
Active substanceLentiviral vector containing the human Wiskott Aldrich Syndrome Protein gene
Medicine Name
Disease/conditionTreatment of Wiskott Aldrich syndrome
Date of decision24/01/2006
Orphan decision numberEU/3/05/345

Review of designation

Sponsor’s contact details:

1 bis rue de l’Internationale
91002 Evry
Telephone: +33 1 69 47 29 17
Telefax: +33 1 69 47 19 46

Patients’ associations contact points:

International Patient Organisation for Primary Immunodeficiencies
Main Road, Downderry
Cornwall PL11 3LE
United Kingdom
Telephone: + 44 1503 250 668
Telefax: + 44 1503 250 668

Immuno-déficience héréditaire : Recherche, Information, Soutien
Association IRIS
BP 72
55102 Verdun Cedex
Telephone: + 33 3 29 83 48 34
Telefax: + 33 3 29 83 48 35

Deutsche Selbsthilfe angeborene Immundefekte e. V.
Hochschatzen 5
83530 Schnaitsee
Telephone: + 49 8074 8164
Telefax: + 49 8074 973