EU/3/18/2045 - orphan designation for treatment of Duchenne muscular dystrophy

ex-vivo fused autologous human bone marrow-derived mesenchymal stem cell with allogenic human myoblast

Overview

On 31 July 2018, orphan designation (EU/3/18/2045) was granted by the European Commission to Dystrogen Therapeutics S.A., Poland, for ex-vivo fused autologous human bone marrow-derived mesenchymal stem cell with allogenic human myoblast for the treatment of Duchenne muscular dystrophy.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a genetic disease that gradually causes weakness and atrophy (wasting) of muscles. It mainly affects boys, and usually starts before the age of six years. The muscle weakness usually starts in the hips and legs, before affecting the arms, chest and the heart. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with DMD the muscles become weaker and eventually stop working.

DMD causes long-term disability and is life threatening because of its effects on the heart and the respiratory muscles (muscles that are used to breathe). The disease usually leads to death in early adulthood.

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

At the time of designation, DMD affected approximately 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of 26,000 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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*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).

What treatments are available?

At the time of designation, the medicine Translarna (ataluren) was authorised in the EU for the treatment of a small group of patients with DMD caused by a particular type of mutation (change), called a nonsense mutation, in the dystrophin gene. Patients also received supportive treatment such as physiotherapy.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with DMD because early laboratory data indicate that it improves levels of dystrophin and muscle function. 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?

This medicine is prepared individually for patients with DMD by mixing in the laboratory certain stem cells (cells that can develop into different types of cells) from the patient with muscle stem cells from a relative that contain dystrophin. When given back to the patient, the cells are expected to become part of the muscle and produce the dystrophin protein, restoring the levels of the missing protein. This is expected to slow down the worsening of the disease.

What is the stage of development of this medicine?

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 DMD had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for DMD or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 21 June 2018 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/3/18/2045: Public summary of opinion on orphan designation: Ex-vivo fused autologous human bone marrow-derived mesenchymal stem cell with allogenic human myoblast for the treatment of Duchenne muscular dystrophy

Adopted Reference Number: EMA/468680/2018

Key facts

• Active substance:
  ex-vivo fused autologous human bone marrow-derived mesenchymal stem cell with allogenic human myoblast
• Intended use:
  Treatment of Duchenne muscular dystrophy
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/18/2045
• Date of designation:
  31/07/2018
• Sponsor:

  Dystrogen Therapeutics Technology Polska Sp. z o.o.; Ul. Wladyslawa Pytlasinskiego 10/12-14; 00-777 Warsaw; Mazowieckie; Poland; E-mail: [e-mail]

Review of designation

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