EU/3/20/2328 - orphan designation for treatment of Friedreich’s ataxia

Human frataxin fused to TAT cell-penetrating peptide

Overview

On 21 August 2020, orphan designation EU/3/20/2328 was granted by the European Commission to YES Pharmaceutical Development Services GmbH, Germany, for human frataxin fused to TAT cell-penetrating peptide (also known as CTI-1601) 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 turn 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.

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).

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*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).

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?

This medicine is made up of frataxin, the protein lacking in patients with Friedreich’s ataxia, linked to a peptide (a short chain of amino acids, the building blocks of proteins) called TAT which is capable of entering cells. Once in the cells, frataxin is transported to mitochondria, thus delivering additional frataxin to patients with Friedreich's ataxia. This is expected to stop or slow down the progression of the disease.

What is the stage of development of this medicine?

The effects of human frataxin fused to TAT cell-penetrating peptide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with Friedreich's ataxia were ongoing.

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

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 16 July 2020, 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.

EU/3/20/2328: Public summary of opinion on orphan designation: Human frataxin fused to TAT cell-penetrating peptide for the treatment of Friedreich's ataxia

AdoptedReference Number: EMADOC-628903358-2755

Key facts

• Active substance:
  Human frataxin fused to TAT cell-penetrating peptide
• Intended use:
  Treatment of Friedreich’s ataxia
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/20/2328
• Date of designation:
  21/08/2020
• Sponsor:

  YES Pharmaceutical Development Services GmbH; Basler Strasse 7; Gonzenheim; 61352 Bad Homburg; Hesse; Germany

  E-mail: [e-mail]

Review of designation

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