Overview

On 4 June 2020, orphan designation EU/3/20/2284 was granted by the European Commission to Drug Development and Regulation S.L., Spain, for sodium phenylbutyrate, tauroursodeoxycholic acid (also known as AMX0035) 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 first, and include loss of balance, loss of control of hand and arm movement, and difficulty speaking, swallowing and breathing. ALS usually starts in midlife 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 approximately 1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 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).

*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).

At the time of designation, riluzole was authorised in the EU to treat ALS. Patients also received supportive treatment, such as physiotherapy and breathing support, 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. Studies showed that the medicine could improve strength of arms and lung function in patients being treated with riluzole. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

The medicine is made up of two substances: sodium phenylbutyrate and tauroursodeoxycholic acid. How the medicine works is not fully clear, but it is expected to reduce nerve cell stress and prevent nerve cells from dying. This is expected to improve symptoms of the disease.

The effects of sodium phenylbutyrate and 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 not authorised anywhere in the EU for the treatment of ALS. Orphan designation had been granted in the United States for this condition.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 23 April 2020, 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/3/20/2284: Public summary of opinion on orphan designation: Sodium phenylbutyrate, tauroursodeoxycholic acid for the treatment of amyotrophic lateral sclerosis

Reference Number: EMADOC-628903358-2376

English (EN) (246.28 KB - PDF)

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Key facts

Active substance
  • Sodium phenylbutyrate
  • Tauroursodeoxycholic acid
Intended use
Treatment of amyotrophic lateral sclerosis
Orphan designation status
Positive
EU designation number
EU/3/20/2284
Date of designation
Sponsor

Barbara Strozzilaan 201
Noord-Holland
1083 HN Amsterdam
Netherlands
Email: Amylyx_EMEA@amylyx.com

Review of designation

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

Update history

The sponsorship was transferred to  Amylyx Pharmaceuticals EMEA B.V., Netherlands , in December 2021.

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:

  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

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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