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Orphan designation

On 16 April 2018, orphan designation (EU/3/18/2008) was granted by the European Commission to Stolmàr & Partner Patentanwälte PartG mbB, Germany, for adeno-associated viral vector serotype 9 encoding miRNA against human superoxide dismutase 1 for the treatment of amyotrophic lateral sclerosis.

What is 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 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.

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

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).

*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 517,400,000 (Eurostat 2018).

What treatments are available?

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

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with ALS. Laboratory studies suggested that the medicine works in a different way to riluzole and baclofen and could lead to improvements in the ability to move. 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?

In some patients with ALS, the condition is caused by a mutation (change) in a gene responsible for producing the enzyme superoxide dismutase 1 (SOD1). This mutation leads to the production of a defective SOD1 which is toxic to nerve cells, eventually causing them to die.

The medicine is made of a virus that contains small fragments of genetic material (RNA) which are expected to interfere with the production of the defective SOD1 protein in nerve cells. This is expected to reduce the production of defective SOD1 and help relieve the symptoms of the disease.

The type of virus used in this medicine (adeno-associated virus) does not cause disease in humans.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.

At the time of submission, no clinical trials with the medicine in patients with ALS had been started.

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 15 March 2018 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>adeno-associated viral vector serotype 9 encoding miRNA against human superoxide dismutase 1</p>
Active substanceadeno-associated viral vector serotype 9 encoding miRNA against human superoxide dismutase 1
Medicine Name
Disease/conditionTreatment of amyotrophic lateral sclerosis
Date of decision16/04/2018
Orphan decision numberEU/3/18/2008

Review of designation

Sponsor’s contact details

Stolmár & Partner Patentanwälte PartG mbB
Blumenstrasse 17
80331 Munich
Tel. +49 89 23 23 670

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.