EU/3/12/1017

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Orphan designation

On 4 July 2012, orphan designation (EU/3/12/1017) was granted by the European Commission to Stiefel Laboratories (Maidenhead) Limited, United Kingdom, for talarozole for the treatment of recessive X-linked ichthyosis.

What is recessive X-linked ichthyosis?

Recessive X-linked ichthyosis is an inherited skin disorder, seen almost exclusively in males. It is caused by a defect in a gene, located on the X chromosome, responsible for producing a protein which is important for making up the outer layer of the skin. The main symptom is that the outer layer of skin becomes dry, thick and scaly. The scales are firmly attached to the underlying skin and can be dark brown or grey in color.

Recessive X-linked ichthyosis is a long-term debilitating disease due to major symptoms which include scaling of the skin, particularly on the neck, trunk and lower extremities.

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

At the time of designation, recessive X-linked ichthyosis affected less than 1.2 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 61,000 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 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of application for orphan designation, acitretin and carbamide were authorised in some countries of the EU to treat recessive X-linked ichthyosis.

The sponsor has provided sufficient information to show that talarozole might be of significant benefit for patients with recessive X-linked ichthyosis because it is potentially associated with fewer side effects than other authorised treatments for this condition. 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?

Talarozole is expected to work by increasing the amount of naturally occurring retinoic acid (vitamin A) in skin cells, by blocking the action of certain enzymes involved in breaking down retinoic acid in the body. Retinoic acid and related substances called retinoids are known to improve skin health and are used to treat various skin conditions. This is expected to help to reduce the symptoms of the disease.

Talarozole is expected to be taken as tablets.

What is the stage of development of this medicine?

The effects of talarozole have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with talarozole in patients with recessive X-linked ichthyosis had been started.

At the time of submission, talarozole was not authorised anywhere in the EU for recessive X-linked ichthyosis 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 11 May 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>Talarozole</p>
Active substanceTalarozole
Medicine Name
Disease/conditionTreatment of recessive X-linked ichthyosis
Date of decision04/07/2012
OutcomePositive
Orphan decision numberEU/3/12/1017

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:

Stiefel Laboratories (Maidenhead) Limited
Eurasia Headquarters
Concord Road
Maidenhead
Berkshire SL6 4BY
United Kingdom
Telephone: +44 208 990 4723
Telefax: +44 208 990 2746
E-mail: marta.x.kollb-sielecka@stiefel.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.