EU/3/18/2058: Orphan designation for the treatment of beta thalassaemia intermedia and major

1-(3-methylbutanoyl)-L-aspartyl-L-threonyl-L-histidyl-L-phenylalanyl-L-prolyl-(L-cystinyl-L-isoleucyl-[(N6-(S)-4-carboxy-4-palmitamidobutanoyl)-L-lysinyl]-L-phenylalanyl-L-glutamyl-L-prolyl-L-arginyl-L-serinyl-L-lysinyl-L-glycinyl-L-cystinyl)-L-lysinamide, disulfide, acetate salt

Overview
Key facts
Review of designation

Overview

On 24 August 2018, orphan designation (EU/3/18/2058) was granted by the European Commission to IQVIA RDS Ireland Limited, Ireland, for 1-(3-methylbutanoyl)-L-aspartyl-L-threonyl-L-histidyl-L-phenylalanyl-L-prolyl-(L-cystinyl-L-isoleucyl-[(N6-(S)-4-carboxy-4-palmitamidobutanoyl)-L-lysinyl]-L-phenylalanyl-L-glutamyl-L-prolyl-L-arginyl-L-serinyl-L-lysinyl-L-glycinyl-L-cystinyl)-L-lysinamide, disulfide, acetate salt (also known as hepcidin mimetic) for the treatment of beta-thalassaemia intermedia and major.

Please note that this product was withdrawn from the Union Register of orphan medicinal products in October 2022 on request of the Sponsor.

: Beta thalassaemia is an inherited disease in which patients are unable to make enough haemoglobin, the iron-rich protein found in red blood cells that carries oxygen around the body. Beta thalassaemia major is a severe form of the disease in which patients need frequent blood transfusions, while beta thalassaemia intermedia is a less severe form, which may worsen with age. Both types of beta thalassaemia are caused by defects in the gene responsible for producing beta-globin, one of the components of haemoglobin, which result in low levels of haemoglobin in the blood.

Beta thalassaemia intermedia and major are life-long debilitating diseases. They may be life threatening because of severe anaemia (low red blood cell count due to lack of haemoglobin), the need for repeated blood transfusions and the risk of complications associated with them.

: At the time of designation, beta thalassaemia intermedia and major affected approximately 1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 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).

*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, the main treatments for beta thalassaemia intermedia and major were blood transfusions and the use of iron chelators (medicines for reducing ‘iron overload’ - the high iron levels in the body caused by repeated blood transfusions). In some cases, allogeneic haematopoietic stem cell transplantation was used to cure the disease. This is a complex procedure where the bone marrow of the patient is cleared of cells and replaced with healthy bone marrow cells from a matched donor, allowing the patient to produce red blood cells with normal haemoglobin.

The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with beta thalassaemia intermedia and major because laboratory studies showed it might improve formation of red blood cells and reduce anaemia. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

: In patients with beta thalassaemia intermedia or major, excess iron can build up in the body damaging organs such as the heart and liver and reducing the formation of red blood cells.

This medicine is a small molecule that mimics the action of the hormone hepcidin. Hepcidin regulates the levels of iron in the body by blocking the uptake of iron from food and by stopping the release of iron from iron-storage cells. Levels of hepcidin are low in patients with thalassaemia. By acting in the same way as hepcidin, the medicine is expected to improve iron regulation and to decrease the damaging effect of iron on the formation of red blood cells, thus improving anaemia and the symptoms of the condition.

: The effects of the medicine 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 beta thalassaemia intermedia or major were planned.

At the time of submission, the medicine was not authorised anywhere in the EU for beta thalassaemia intermedia or major. Orphan designation of the medicine had been granted in the United States for beta thalassaemia.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 July 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.

Key facts

Active substance	1-(3-methylbutanoyl)-L-aspartyl-L-threonyl-L-histidyl-L-phenylalanyl-L-prolyl-(L-cystinyl-L-isoleucyl-[(N6-(S)-4-carboxy-4-palmitamidobutanoyl)-L-lysinyl]-L-phenylalanyl-L-glutamyl-L-prolyl-L-arginyl-L-serinyl-L-lysinyl-L-glycinyl-L-cystinyl)-L-lysinamide, disulfide, acetate salt
Intended use	Treatment of beta thalassaemia intermedia and major
Orphan designation status	Withdrawn
EU designation number	EU/3/18/2058
Date of designation	24/08/2018
Sponsor	IQVIA RDS Ireland Limited Estuary House East Point Business Park Fairview Dublin 3 Ireland Tel. +353 1 819 51 00 E-mail: Malia.Segar@iqvia.com

Review of designation

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

Update history

Date	Update
October 2022	Product withdrawn from the Union Register of orphan medicinal products on request of the Sponsor.

Documents related to this orphan designation evaluation

EU/3/18/2052: Public summary of opinion on orphan designation: 1-(3-methylbutanoyl)-L-aspartyl-L-threonyl-L-histidyl-L-phenylalanyl-L-prolyl-(L-cystinyl-L-isoleucyl-[(N6-(S)-4-carboxy-4-palmitamidobutanoyl)-L-lysinyl]-L-phenylalanyl-L-glutamyl-L-prolyl... (PDF/225.47 KB)

Adopted

First published: 20/12/2018
Last updated: 21/10/2022
EMA/530846/2018

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.

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:

European Commission: Community Register of orphan medicinal products

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