EU/3/04/233

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Orphan designation

Please note that this product was withdrawn from the Community register of designated orphan medicinal products in May 2014 on request of the sponsor.

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.

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

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 is the estimated number of patients affected by the condition?

At the time of designation, gamma sarcoglycanopathy affected approximately 0.02 in 10,000 people in the European Union (EU). This was equivalent to a total of 1,300 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 25), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 464,200,000 (Eurostat 2004).

What treatments are 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.

How is this medicine expected to work?

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 medicine?

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.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 September 2004 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>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
OutcomeWithdrawn
Orphan decision numberEU/3/04/233

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:

Généthon
1 bis rue de l’internationale
F-91000 Evry
France
Telephone: +33 1 69 47 29 17
Telefax: +33 1 69 47 19 46
http://www.genethon.fr/en/contacts-en/

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.