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Orphan designation

On 21 October 2004, orphan designation (EU/3/04/233) was granted by the European Commission to Généthon, France, for adeno-associated viral vector containing the human gamma sarcoglycan gene for the treatment of gamma sarcoglycanopathy.

What is gamma sarcoglycanopathy?

Gamma sarcoglycanopathy is an inherited condition and usually appears in childhood. The abnormal gene is located on a portion of chromosome number 13, and the disease occurs if both parents pass an abnormal version of this gene onto their offspring (this type of disease transmission is called “autosomal recessive” transmission). Patients suffering from this condition are not able to produce a protein called gamma sarcoglycan in the muscle cells. This protein is important for normal functioning of the muscle cells. Gamma sarcoglycanopathy is characterised by progressive weakness of the muscles. Gamma sarcoglycanopathy is chronically debilitating and life-threatening.

What are the methods of treatment available?

At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union for treatment of the condition. Treatment of patients with gamma sarcoglycanopathy primarily involved physiotherapy as supportive treatment, but also surgery of the tendon and spine fusion.

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

According to the information provided by the sponsor, gamma sarcoglycanopathy was considered to affect about 9,000 persons in the European Union. 

*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 Lichtenstein. This represents a population of 459,700,000 (Eurostat 2004). This estimate is based on available information and calculations presented by the sponsor at the time of the application.

How is this medicinal product expected to act?

Adeno-associated viral vector containing the human gamma sarcoglycan gene is a medicinal product which uses a virus to carry the gene necessary for the production of the gamma sarcoglycan protein. A virus is a small organism capable of introducing genetic material in cells. The type of virus (adenoassociated virus) used in this medicinal product is modified in order to avoid causing any disease in humans.

What is the stage of development of this medicinal product?

The evaluation of the effects of adeno-associated viral vector containing the human gamma sarcoglycan  gene in experimental models is ongoing. At the time of submission of the application for orphan designation, no clinical trials in patients with gamma sarcoglycanopathy were initiated.
Adeno-associated viral vector containing the human gamma sarcoglycan gene was not marketed anywhere worldwide for gamma sarcoglycanopathy 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 9 September 2004 a positive opinion recommending the grant of the above-mentioned designation.

Opinions on orphan medicinal products designations are based on the following cumulative criteria:
  • the seriousness of the condition, 
  • the existence or not of  alternative methods of diagnosis, prevention or treatment and
  • either the rarity of the condition (considered to affect not more than five in ten thousand persons in the Community) or the insufficient return of development investments. 

Designated orphan medicinal products are still investigational products which were considered for 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 will be necessary before this product can be granted a marketing authorisation. 

Key facts

Product details for <p>Adeno-associated viral vector containing the human gamma-sarcoglycan gene</p>
Active substanceAdeno-associated viral vector containing the human gamma-sarcoglycan gene
Medicine Name
Disease/conditionTreatment of gamma-sarcoglycanopathy
Date of decision21/10/2004
Orphan decision numberEU/3/04/233

Review of designation

Sponsor’s contact details:

1 bis rue de l’internationale
F-91000 Evry
Telephone: +33 1 69 47 29 17
Telefax: +33 1 69 47 19 46

Patients’ associations contact points:

AFM : Association Française contre les Myopathies
BP 59
1 Rue de l'Internationale
91002 Evry Cedex
Telephone: +33 1 69 47 28 28 / +33 81 08 11 088
Telefax: +33 1 60 77 12 16

ASEM ESPAÑA : Asociación Española contra las Enfermedades Neuromusculares
Gran Via de les Corts Catalanes, 562, pral. 2
08011 Barcelona
Telephone: +34 93 451 65 44
Telefax: +34 93 45 16 904

DGM : Deutsche Gesellschaft für Muskelkranke e.V.
Im Moos 4
79112 Freiburg
Telephone: +49 76 65 94 470
Telefax: +49 76 65 94 47 20