EU/3/05/309 - orphan designation for treatment of 5q spinal muscular atrophy

Sodium valproate

Overview

Please note that this product was withdrawn from the Community Register of designated orphan medicinal products in December 2011 on request of the sponsor.

On 26 August 2005, orphan designation (EU/3/05/309) was granted by the European Commission to the Jennifer Trust for Spinal Muscular Atrophy, United Kingdom, for Sodium valproate for the treatment of 5q spinal muscular atrophy.

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is 5q spinal muscular atrophy?

5q spinal muscular atrophy (SMA) is an inherited disease. The abnormal gene is located on the long arm (q arm) of chromosome 5 (hence the name “5q”) and the disease occurs if both parents pass this gene onto their offspring (called autosomal recessive transmission). Due to this defect a structure called spinal motor neuron (SMN) protein is lacking. Normally SMN protein is essential to the normal functioning and survival of the nervous cells responsible for muscular activity (motor neurons). Without this protein these neurons may deteriorate and eventually die, resulting in muscle weakness. In 5q SMA muscle weakness is found most often at the level of the proximal muscles (the muscles closest to the trunk), but in the most severe cases respiratory muscles can be affected too leading to increased risk of lung infections and breathing problems. The disease is life-threatening and chronically debilitating.

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

At the time of designation, 5q spinal muscular atrophy affected not more than 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 14,000 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 25), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 466,600,000 (Eurostat 2005).

What treatments are available?

No satisfactory methods exist that were authorised at the time of application. Several treatment methods consisting of medicines or non-medicinal approaches have been tried or are under investigation.

How is this medicine expected to work?

Sodium valproate is a medicine currently used to control the convulsions (fits or seizures) in some forms of epilepsy. Although the exact mechanism of action in 5q spinal muscular atrophy is not known, it is suggested that sodium valproate would increase the production of the missing SMN protein. This might result in improving the functioning of the nerves, affected in patients with 5q spinal muscular atrophy.

What is the stage of development of this medicine?

The evaluation of the effects of sodium valproate in experimental models is ongoing. At the time of submission of the application for orphan designation, no clinical trials in patients with 5q spinal muscular atrophy were initiated.

Sodium valproate was not marketed anywhere worldwide for the treatment of 5q spinal muscular atrophy or designated as orphan medicinal product elsewhere for this condition, at the time of submission. According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 13 July 2005 a positive opinion recommending the grant of the above-mentioned designation.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 13 July 2005 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/3/05/309: Public summary of positive opinion for orphan designation of sodium valproate for the treatment of 5q spinal muscular atrophy

AdoptedReference Number: EMEA/COMP/245336/2005 Rev.2

Key facts

• Active substance:
  Sodium valproate
• Intended use:
  Treatment of 5q spinal muscular atrophy
• Orphan designation status:
  Withdrawn
• EU designation number:
  EU/3/05/309
• Date of designation:
  26/08/2005
• Sponsor:

  The Jennifer Trust for Spinal Muscular Atrophy; Ms Heather Brown; 40 Cygnet Court, Timothy's Bridge Road; Stratford upon Avon CV37 9NW; United Kingdom; Tel. [phone]; Fax [phone]; E-mail: [e-mail]