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Orphan designation

On 21 March 2018, orphan designation (EU/3/18/1990) was granted by the European Commission to PharmaBio Consulting, Germany, for dimethyl fumarate for the treatment of Friedreich's ataxia.

What is Friedreich's ataxia?

Friedreich’s ataxia is an inherited disease that causes a range of symptoms that worsen over time, including difficulty walking, inability to co-ordinate movements, muscle weakness, speech problems, damage to the heart muscle, and diabetes.

Patients with Friedreich’s ataxia do not have enough frataxin, a protein that regulates iron in mitochondria (energy-producing components of cells). As a result, iron builds up within the cells, which in turns results in the production of toxic forms of oxygen that damage cells in the brain, the spinal cord and nerves, as well as in the heart and pancreas.

Friedreich’s ataxia is a debilitating and life-threatening disease because of the worsening of symptoms over time. The disease is usually fatal in early adulthood.

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

At the time of designation, Friedreich's ataxia affected approximately 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of around 26,000 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 28), Norway, Iceland and Liechtenstein. This represents a population of 517,400,000 (Eurostat 2018).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of Friedreich’s ataxia. Different treatments were used to relieve the symptoms of the disease, such as medicines for diabetes and heart problems. Patients were also offered walking aids to allow them to remain as independent as possible, and other devices to assist them with everyday tasks such as eating and taking care of themselves. Speech therapy and physiotherapy were also used.

How is this medicine expected to work?

The medicine is involved in the activation of a protein called Nrf2, which can reduce inflammation and protect cells against toxic forms of oxygen. In addition, dimethyl fumarate is also involved in the development of mitochondria in the cells and seems to increase levels of frataxin. These effects are expected to reduce the symptoms of the disease.

What is the stage of development of this medicine?

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with Friedreich's ataxia had been started.

Dimethyl fumarate is authorised in the EU for the treatment of psoriasis and multiple sclerosis.

At the time of submission, the medicine was not authorised anywhere in the EU for Friedreich's ataxia. Orphan designation of the medicine had been granted in the USA for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 15 February 2018 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>Dimethyl fumarate</p>
Active substanceDimethyl fumarate
Medicine Name
Disease/conditionTreatment of Friedreich's ataxia
Date of decision21/03/2018
Orphan decision numberEU/3/18/1990

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

PharmaBio Consulting
Immentalstr. 22
79104 Freiburg
Tel. +49 761 612 94 52; +49 160 88 21 027

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.