EU/3/12/1088

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Orphan designation

On 24 January 2013, orphan designation (EU/3/12/1088) was granted by the European Commission to California Stem Cell (UK) Ltd, United Kingdom, for allogeneic motor-neuron progenitor cells derived from human embryonic stem cells for the treatment of 5q spinal muscular atrophy.

What is 5q spinal muscular atrophy?

5q spinal muscular atrophy is an inherited disease that affects the motor neurons (nerves from the brain and spinal cord that control muscle movements). Patients with the disease lack a protein called ‘survival motor neuron’ (SMN), which is essential for the normal functioning and survival of motor neurons. Without this protein, the motor neurons deteriorate and eventually die. This causes the muscles to fall into disuse, leading to muscle wasting (atrophy) and weakness. The disease is linked to a defect on chromosome 5q and is usually diagnosed in the first year of life.

5q spinal muscular atrophy is a long-term debilitating and life-threatening disease because it causes breathing problems and paralysis that worsens over time.

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

At the time of designation, 5q spinal muscular atrophy affected less than 0.4 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 20,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 509,000,000 (Eurostat 2013).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of 5q spinal muscular atrophy. Patients received supportive treatment to help them and their families cope with the symptoms of the disease. This included chest physiotherapy and physical aids to support muscular function, and ventilators to help with breathing.

How is this medicine expected to work?

The medicine consists of motor neuron progenitor cells (cells that develop into motor neurons). These have been derived from human embryonic stem cells, immature cells in the embryo that are capable of developing into different kinds of cells.

The medicine is intended for injection into the spinal cord of infants with 5q spinal muscular atrophy. Once inside the spinal cord, the cells are expected to develop into mature motor neurons which will help to improve the child’s condition by releasing certain natural substances (known as growth factors) that delay the loss of motor-neuron function and possibly by replacing some of the child’s poorly functioning or lost motor neurons.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with 5q spinal muscular atrophy had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for 5q spinal muscular atrophy. Orphan designation had been granted in the United States for 5q spinal muscular atrophy.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 6 December 2012 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>Allogeneic motor-neuron progenitor cells derived from human embryonic stem cells</p>
Active substanceAllogeneic motor-neuron progenitor cells derived from human embryonic stem cells
Medicine Name-
Disease/conditionTreatment of 5q spinal muscular atrophy
Date of decision24/01/2013
OutcomePositive
Orphan decision numberEU/3/12/1088

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:

California Stem Cell (UK) Ltd
9 Ainslie Place
Edinburgh
EH3 6AT
United Kingdom
Tel. +44 (0)131 661 6100
Fax +44 (0)131 332 4500
E-mail: regulatory@advocates.ltd.uk

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.