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Orphan designation

On 27 February 2009, orphan designation (EU/3/09/617) was granted by the European Commission to Isabelle Ramírez, Germany, for 2,2-dimethylbutyric acid, sodium salt for the treatment of beta thalassaemia intermedia and major.

What are beta thalassaemia intermedia and major?

Beta thalassaemia is an inherited disease in which patients are unable to make enough haemoglobin, the protein found in red blood cells that carries oxygen around the body. Beta thalassaemia major is a severe form of the disease in which patients need frequent blood transfusions. Beta thalassaemia intermedia is a less severe form, which may get worse with age.

Beta thalassaemia intermedia and major are debilitating diseases that are long lasting and may be life threatening because of anaemia (the lack of haemoglobin) and the risk of complications associated with blood transfusion (such as iron deposits and infections).

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

At the time of designation, beta thalassaemia intermedia and major affected less than 1 in 10,000 people in the European Union (EU)*. This is below the threshold for orphan designation, which is 5 in 10,000, and is equivalent to a total of less than 50,000 people. 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 based on data from the European Union (EU 27), Norway, Iceland and Liechtenstein. This represents a population of 502,282,000 (Eurostat 2009).

What treatments are available?

At the time of designation, the main treatment for beta thalassaemia intermedia and major was blood transfusion. This is usually combined with iron chelators (medicines used to reduce iron levels in the body). High iron levels result from repeated blood transfusions. In some cases, bone marrow transplantation from a matched donor was used to allow the patient to produce red blood cells with normal levels of haemoglobin.

The sponsor has provided sufficient information to show that 2,2-dimethylbutyric acid, sodium salt, a medicine to be taken by mouth, might be of potential significant benefit for the patients because it is expected to reduce the need for blood transfusions. 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?

2,2-Dimethylbutyric acid, sodium salt is expected to increase the amount of haemoglobin in the blood by promoting the production of foetal haemoglobin. This is the main type of haemoglobin found in unborn children. The levels of foetal haemoglobin usually decrease to around 1% of the total haemoglobin after two years of age. In beta thalassaemia, foetal haemoglobin is expected to replace the missing haemoglobin, reducing the need for blood transfusions.

What is the stage of development of this medicine?

The effects of 2,2-dimethylbutyric acid, sodium salt have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials in healthy volunteers were ongoing.

At the time of submission, 2,2-dimethylbutyric acid, sodium salt was not authorised anywhere in the world for beta thalassaemia intermedia and major. Orphan designation of the medicine had been granted in the United States of America for beta thalassaemia.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 7 January 2009 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 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>2,2-Dimethylbutyric acid, sodium salt</p>
Active substance2,2-Dimethylbutyric acid, sodium salt
Medicine Name
Disease/conditionTreatment of beta-thalassaemia intermedia and major
Date of decision26/02/2009
Orphan decision numberEU/3/09/617

Review of designation

Sponsor’s contact details:

Isabelle Ramirez
Friedrichstrasse 5

Patients’ associations contact points:

Association Française de Lutte contre les Thalassémies et les Hémoglobinopathies
Résidence Parc Azur - Immeuble l'Albatros
Lieu dit Strette
20090 Ajaccio
Telephone: +33 4 95 23 29 58
Telefax: +33 4 95 23 29 58

TIF - Thalassaemia International Federation
P.O. BOX 28807
Telephone: + 30 357 22 319 129
Telefax: +30 357 22 314 552

Associazione Veneta per la Lotta alla Talassemia
Centro Microcitemia dell'Azienda ULSS 18
Viale Tre Martiri
45100 Rovigo
Telephone: +39 0425 33806
Telefax: +39 0425 33806