Overview

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.

The sponsorship was transferred to Gador Europa S.L., Spain in January 2021.

In July 2021, Gador Europa S.L. changed name to Qualix Pharma S.L.

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.

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).

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.

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.

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.

  • 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.

EU/3/18/1990: Public summary of opinion on orphan designation: Dimethyl fumarate for the treatment of Friedreich's ataxia

AdoptedReference Number: EMA/117924/2018

English (EN) (112.55 KB - PDF)

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Key facts

Active substance
dimethyl fumarate
Intended use
Treatment of Friedreich’s ataxia
Orphan designation status
Positive
EU designation number
EU/3/18/1990
Date of designation
Sponsor

Qualix Pharma S.L.
Calle Del Doctor Fleming 24 3b
28036 Madrid
Spain
Tel: +34 638 31 79 29
E-mail: lcliment@qualixpharma.com

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

EMA list of opinions on orphan medicinal product designation

EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

EU register of orphan medicines

The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:

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