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Orphan designation

On 16 April 2018, orphan designation (EU/3/18/2010) was granted by the European Commission to Novartis Europharm Limited, United Kingdom, for branaplam for the treatment of spinal muscular atrophy.

What is spinal muscular atrophy?

Spinal muscular atrophy is an inherited disease usually diagnosed in the first year of life 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.

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, spinal muscular atrophy affected approximately 0.7 in 10,000 people in the European Union (EU). This was equivalent to a total of around 36,000 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).

*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, one medicine, Spinraza, was authorised for the treatment of spinal muscular atrophy. Patients also 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 muscle function, and ventilators to help with breathing.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with spinal muscular atrophy. Early data showed that branaplam improved muscle function and reduced the need for assisted feeding and ventilation. Also, branaplam is given by mouth while Spinraza is given by intrathecal injection (into the lower back, directly into the spine).

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?

The SMN protein is produced by two genes, the SMN1 and SMN2 genes. Most patients with spinal muscular atrophy lack the SMN1 gene but have the SMN2 gene, which mostly produces a short SMN protein that does not work as well as a full-length protein.

Branaplam is expected to enable the SMN2 gene to produce a full-length protein that works normally. This is expected to increase survival of motor neurons and reduce symptoms of the disease.

What is the stage of development of this medicine?

The effects of branaplam 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 spinal muscular atrophy were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for spinal muscular atrophy 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 15 March 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.

Key facts

Product details for <p>branaplam</p>
Active substancebranaplam
Medicine Name
Disease/conditionTreatment of spinal muscular atrophy
Date of decision16/04/2018
Orphan decision numberEU/3/18/2010

Review of designation

Sponsor’s contact details

Novartis Europharm Limited
Frimley Business Park
Camberley GU16 7SR
United Kingdom
Tel. +41 (0)61 324 11 11

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.