EU/3/07/434

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Orphan designation

On 15 February 2007, orphan designation (EU/3/07/434) was granted by the European Commission to Santhera Pharmaceuticals (Deutschland) GmbH, Germany, for idebenone for the treatment of Leber's hereditary optic neuropathy.

The name of the sponsor changed to Santhera Pharmaceuticals (Deutschland) GmbH in September 2010.

Update: idebenone (Raxone) has been authorised in the EU since 8 September 2015 for treatment of visual impairment in adolescent and adult patients with Leber’s Hereditary Optic Neuropathy (LHON).

What is Leber's hereditary optic neuropathy?

Leber's hereditary optic neuropathy is an inherited disease characterised by progressive loss of sight. Patients affected by Leber's hereditary optic neuropathy have mutations in the genetic material of mitochondria. Mitochondria are structures located inside cells, which produce the energy necessary for cells to function. It is thought that the mutations lead to a defective function of the mitochondria in the optic nerve cells and to degeneration of these cells that are needed for vision. Leber's hereditary optic neuropathy is chronically debilitating due to progressive loss of vision.

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

At the time of designation, Leber's hereditary optic neuropathy affected less than 1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 46,000 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 based on data from the European Union (EU 25), Norway, Iceland and Lichtenstein. This represents a population of 459,700,000 (Eurostat 2004). This estimate is based on available information and calculations presented by the sponsor at the time of the application.

What treatments are available?

At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union for treatment of the condition. Patients with Leber's hereditary optic neuropathy usually receive genetic counselling and general support such as information and regular medical follow up.

How is this medicine expected to work?

Mitochondria produce the energy necessary for the cell functioning through a process named “cellular respiration” which requires oxygen and produces energy. During cellular respiration, some toxic forms of oxygen (called oxygen free radicals) can be produced; these must be neutralised by other substances to avoid cellular damage. Idebenone is expected to act as a neutraliser of these toxic forms of oxygen. Thus, idebenone is expected to have an antioxidant effect, and consequently prevent cellular damage.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the effects of idebenone had been evaluated in experimental models, and clinical trials in patients with Leber's hereditary optic neuropathy were planned.

Idebenone was not authorised anywhere in the world for treatment of Leber's hereditary optic neuropathy or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 10 January 2007 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>Idebenone</p>
Active substanceIdebenone
Medicine Name
Disease/conditionTreatment of Leber's hereditary optic neuropathy
Date of decision15/02/2007
OutcomePositive
Orphan decision numberEU/3/07/434

Review of designation

During its meeting of 14 to 16 July 2015, the Committee for Orphan Medicinal Products (COMP) reviewed the designation EU/3/07/434 for Raxone (idebenone) as an orphan medicinal product for the treatment of Leber’s hereditary optic neuropathy. The COMP assessed whether, at the time of marketing authorisation, the medicinal product still met the criteria for orphan designation. The Committee looked at the seriousness and prevalence of the condition, and the existence of other methods of treatment. The COMP recommended that the orphan designation of the medicine be maintained1.


1The maintenance of the orphan designation at time of marketing authorisation would, except in specific situations, give an orphan medicinal product 10 years of market exclusivity in the EU. This means that in the 10 years after its authorisation similar products with a comparable therapeutic indication cannot be placed on the market.

Life-threatening or long-term debilitating nature of the condition

The Committee for Medicinal Products for Human Use (CHMP) recommended the authorisation of Raxone for:

‘treatment of visual impairment in adolescent and adult patients with Leber’s hereditary optic neuropathy (LHON)’.

This falls within the scope of the product’s designated orphan indication, which is: ‘treatment of Leber's hereditary optic neuropathy’.

The COMP concluded that there had been no change in the seriousness of the condition since the orphan designation in 2007. Leber's hereditary optic neuropathy remains a condition that is debilitating in the long term due to progressive loss of vision that may lead to blindness.

Prevalence of the condition

The sponsor provided updated information on the prevalence of Leber’s hereditary optic neuropathy based on data from the scientific literature.

On the basis of the information provided by the sponsor and the knowledge of the COMP, the COMP concluded that the prevalence of Leber's hereditary optic neuropathy remains below the ceiling for orphan designation, which is 5 people in 10,000. At the time of the review of the orphan designation, the prevalence was estimated to be not more than 0.2 people in 10,000. This is equivalent to a total of not more than 10,000 people in the EU.

Existence of other methods of treatment

The COMP noted that, at the time of the review of the orphan designation, no treatments were authorised in the EU for patients affected by this condition. Patients usually received genetic counselling, general support and regular medical follow up.

Conclusions

Based on the data submitted and the scientific discussion within the COMP, the COMP considered that Raxone still meets the criteria for designation as an orphan medicinal product and that it should remain in the Community Register of Orphan Medicinal Products.

Further information on the current regulatory status of Raxone can be found in the European public assessment report (EPAR) on the Agency’s website.

Sponsor’s contact details

Santhera Pharmaceuticals (Deutschland) GmbH
Wallbrunnstrasse 24
D-79539 Lörrach
Germany
Tel. +49 76211690200
Fax +49 76211690201
E-mail: klaus.schollmeier@santhera.com

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.