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Orphan designation

On 1 October 2010, orphan designation (EU/3/10/793) was granted by the European Commission to Repligen Europe Limited, Ireland, for N-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide 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). This results in a toxic build up of iron 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 less than 0.7 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 35,000 people, and is below the threshold for orphan designation, which is 5 people in 10,000. 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 on the basis of data from the European Union (EU 27), Norway, Iceland and Liechtenstein. This represents a population of 506,500,000 (Eurostat 2010).

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?

N-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide is expected to work by blocking the activity of proteins called histone deacetylases, which are involved in turning genes ‘on’ and ‘off’ within cells. In Friedreich’s ataxia, this medicine is expected to keep the gene for frataxin switched ‘on’, increasing the production of the protein and relieving the symptoms of the disease.

What is the stage of development of this medicine?

The effects of N-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with N-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide in patients with Friedreich’s ataxia had been started.

At the time of submission, N-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide was not authorised anywhere in the EU for Friedreich’s ataxia. Orphan designation of the medicine had been granted in the United States of America for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 July 2010 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>N-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide</p>
Active substanceN-(6-(2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide
Medicine Name
Disease/conditionTreatment of Friedreich’s ataxia
Date of decision01/10/2010
Orphan decision numberEU/3/10/793

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:

Repligen Europe Limited
25/28 North Wall Quay
Dublin 1
Dublin Co.
Telephone: +353 42 93 76 973
Telefax: +353 42 93 76 740

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.