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Orphan designation

Please note that this product was withdrawn from the Community Register of designated orphan medicinal products in December 2012 on request of the sponsor.

On 28 August 2006, orphan designation (EU/3/06/397) was granted by the European Commission to Trophos SA, France, for cholest-4-en-3-one, oxime for the treatment of amyotrophic lateral sclerosis.

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

What is amyotrophic lateral sclerosis?

Amyotrophic lateral sclerosis is a progressive, neurological disease. Amyotrophic lateral sclerosis occurs when specific nerve cells in the brain and spinal cord that control voluntary movement gradually deteriorate. The loss of these so-called motor neurons causes the muscles under their control to weaken and waste away, leading to paralysis. Amyotrophic lateral sclerosis varies from patient to patient, depending on which muscles weaken first. 

Symptoms may include tripping and falling, loss of motor control in hands and arms, difficulty speaking, swallowing and / or breathing, persistent fatigue, and twitching and cramping. Amyotrophic lateral sclerosis strikes in mid-life. Men are about one-and-a-half times more likely to have the disease as women. Amyotrophic lateral sclerosis is chronically debilitating and life-threatening.

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

At the time of designation, amyotrophic lateral sclerosis affected approximately 0.4 in 10,000 people in the European Union (EU). This was equivalent to a total of around 19,000 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 25), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 468,900,000 (Eurostat 2006).

What treatments are available?

A medicinal product was authorised for the condition in the Community at the time of submission of the application for orphan drug designation. Cholest-4-en-3-one, oxime might be of potential significant benefit for the treatment of amyotrophic lateral sclerosis because it would improve the treatment of patients with amyotrophic lateral sclerosis. The benefit will have to be confirmed at the time of marketing authorisation. This will be necessary to maintain the orphan status.

How is this medicine expected to work?

Cholest-4-en-3-one, oxime is a substance that derives from cholesterol and is expected to protect the motor neurons both by stimulating their repair and delaying their death. The exact mechanism of action is not known; effects on cellular structures called mitochondria may be involved.

What is the stage of development of this medicine?

The evaluation of the effects of cholest-4-en-3-one, oxime in experimental models is ongoing.

At the time of submission of the application for orphan designation, clinical trials in patients with amyotrophic lateral sclerosis were ongoing.

Cholest-4-en-3-one, oxime was not authorised anywhere worldwide for treatment of amyotrophic lateral sclerosis, at the time of submission. Orphan designation of cholest-4-en-3-one, oxime was granted in the United States for amyotrophic lateral sclerosis.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted a positive opinion on 12 July 2006 recommending the granting of the abovementioned 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 Community) 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>Cholest-4-en-3-one, oxime</p>
Active substanceCholest-4-en-3-one, oxime
Medicine Name
Disease/conditionTreatment of amyotrophic lateral sclerosis
Date of decision28/08/2006
Orphan decision numberEU/3/06/397

Review of designation

Sponsor’s contact details

Trophos SA
Parc scientifique de Lumigny
Case 931
Luminy Biotech Entreprise
13288 Marseille cedex
Tel. +33 4 91 82 82 82
Fax +33 4 91 82 82 89

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.