Overview

On 27 February 2017, orphan designation (EU/3/17/1844) was granted by the European Commission to Bruschettini s.r.l., Italy, for tauroursodeoxycholic acid for the treatment of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a progressive disease of the nervous system, where nerve cells in the brain and spinal cord that control voluntary movement gradually deteriorate, causing loss of muscle function and paralysis. The exact causes are unknown but are believed to include genetic and environmental factors. The symptoms of ALS depend on which muscles weaken most, and include loss of balance, loss of control of hand and arm movement, and difficulty speaking, swallowing and breathing. ALS usually starts in mid-life and men are more likely to develop the disease than women.

ALS is a debilitating and life-threatening disease because of the gradual loss of function and its paralysing effect on muscles used for breathing, which usually leads to death from respiratory failure.

At the time of designation, ALS affected not more than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 52,000 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 515,700,000 (Eurostat 2017).

At the time of designation, riluzole was authorised in the EU to treat ALS. Patients also received supportive treatment, such as physiotherapy, breathing support and medicines to relieve the symptoms of the disease.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with ALS. Early studies suggest that adding tauroursodeoxycholic acid to riluzole treatment may slow down the worsening in muscle function. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

Tauroursodeoxycholic acid is considered to be a 'neuroprotective' substance, which means that it protects nerve cells from damage. The way in which the medicine works is not clearly understood but it is thought to involve protecting nerve cells from dying, modifying the body's immune (defence) system, and neutralising the effects of harmful oxygen-containing substances. By reducing damage to nerve cells, the medicine is expected to slow down the worsening of symptoms in ALS.

The effects of tauroursodeoxycholic acid 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 ALS were ongoing.

At the time of submission, the medicine was authorised in Italy for disorders of bile production.

At the time of submission, the medicine was not authorised anywhere in the EU for ALS 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 24 January 2017 recommending the granting of this designation.

  • 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/3/17/1844: Public summary of opinion on orphan designation: Tauroursodeoxycholic acid for the treatment of amyotrophic lateral sclerosis

AdoptedReference Number: EMA/72424/2017

English (EN) (115.37 KB - PDF)

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Key facts

Active substance
Tauroursodeoxycholic acid
Intended use
Treatment of amyotrophic lateral sclerosis
Orphan designation status
Positive
EU designation number
EU/3/17/1844
Date of designation
Sponsor

Bruschettini s.r.l.
Via Isonzo, 6
16147 Genova
Italy
Tel. +39 010 381 222
E-mail: info@bruschettini.com

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product it it is approved for marketing authorisation.

EMA list of opinions on orphan medicinal product designation

EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

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.

EU register of orphan medicines

The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:

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