EU/3/20/2298 - orphan designation for treatment of sickle cell disease

Hemopexin

Overview

On 27 July 2020, orphan designation EU/3/20/2298 was granted by the European Commission to CSL Behring GmbH, Germany, for human hemopexin for the treatment of sickle cell disease.

What is sickle cell disease?

Sickle cell disease is a genetic disease in which the red blood cells become rigid and sticky and change from being disc-shaped to being crescent-shaped (like a sickle). The change in shape is caused by the presence of an abnormal form of haemoglobin, the protein in red blood cells that carries oxygen around the body.

In patients with sickle cell disease, the abnormal red blood cells attach to the walls of blood vessels and block them, restricting the flow of oxygen-rich blood to the internal organs such as the heart, lungs and spleen. The disease causes severe pain and damage to these organs as well as repeated infections and anaemia (low red-blood-cell counts).

Sickle cell disease is a severe disease that is long-lasting and may be life-threatening because of damage to the heart and the lungs, anaemia and infections.

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

At the time of designation, sickle cell disease affected approximately 1 in 10,000 people in the European Union (EU). This was equivalent to a total of 52,000 people*, and is below the ceiling 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).

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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, the only medicine authorised in the EU to treat sickle cell disease was hydroxycarbamide, also known as hydroxyurea. The main treatment for sickle cell disease was blood transfusion. In some cases, haematopoietic (blood) stem cell transplantation (a complex procedure where the patient receives stem cells from a matched donor to help restore the bone marrow) was used to allow the patient to produce red blood cells containing normal haemoglobin.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with sickle cell disease. Laboratory studies indicate that the medicine might help to lower levels of heme in the blood during sickle cell attacks and so reduce symptoms.

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?

In patients with sickle cell disease the abnormal red blood cells are prone to rupture and release their contents including a substance known as heme, which is thought to encourage red blood cells to stick together and block blood vessels during attacks (crises). The medicine attaches to heme and prevents it from acting in this way, thereby helping to reduce the blockage of blood vessels, improve blood flow and reduce symptoms of an attack.

What is the stage of development of this medicine?

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

At the time of submission of the application for orphan designation, no clinical trials with human hemopexin in patients with sickle cell disease had been started.

At the time of submission, human hemopexin was not authorised anywhere in the EU for the treatment of sickle cell disease or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 18 June 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.

Key facts

• Active substance:
  Hemopexin
• Intended use:
  Treatment of sickle cell disease
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/20/2298
• Date of designation:
  27/07/2020
• Sponsor:

  CSL Behring GmbH; Emil-von-Behring-Str. 76; 35041 Marburg; Germany; Tel. [phone]; 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.