EU/3/17/1957 - orphan designation for treatment of Huntington’s disease

Adeno-associated viral vector serotype 5 encoding a microRNA targeted to human huntingtin gene

Overview

On 17 January 2018, orphan designation (EU/3/17/1957) was granted by the European Commission to uniQure biopharma B.V., the Netherlands, for adeno-associated viral vector serotype 5 encoding a microRNA targeted to human huntingtin gene (also known as AAV5-MiHTT) for the treatment of Huntington's disease.

What is Huntington's disease?

Huntington's disease is a hereditary disease that causes brain cells to die. This leads to symptoms such as involuntary jerky movements, behavioural problems and dementia (loss of intellectual function). The disease is usually first noticed between 35 and 45 years of age, and gets worse over time.

Huntington's disease is caused by defects in the gene responsible for the production of a protein called huntingtin. The gene abnormalities result in an abnormal form of the protein being produced, which causes damage to the cells in specific areas of the brain.

Huntington's disease is a debilitating and life-threatening condition because it causes severe behavioural and mental problems, a progressive loss of the ability to move and potentially life-threatening complications.

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

At the time of designation, Huntington's disease affected approximately 1.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 62,000 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).

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*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).

What treatments are available?

At the time of designation, the treatments authorised in the EU for Huntington's disease were aimed at relieving the symptoms of the disease. In some Member States, haloperidol, pimozide, tetrabenazine and tiapride were authorised for the abnormal involuntary movements that occur in Huntington's disease. In addition, benzodiazepines were used for anxiety, and antidepressants and lithium to treat depression and mood swings.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with Huntington's disease because laboratory data suggest that the medicine could enable patients to keep control of their movements. 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?

The medicine is made of a virus that contains a small strand of synthetic genetic material called a 'microRNA'. The microRNA is designed to attach to genetic material in the cell responsible for the production of the abnormal huntingtin protein. When the medicine is injected into the brain, the viruses are expected to carry the genetic material into the brain cells and prevent the abnormal protein from being produced. This is expected to reduce damage to brain cells and improve symptoms of the disease.

The type of virus used in this medicine (adeno-associated virus) is modified so that it 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 Huntington's disease had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for Huntington's disease 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 7 December 2017 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.

EU/3/17/1957: Public summary of opinion on orphan designation: Adeno-associated viral vector serotype 5 encoding a microRNA targeted to human huntingtin gene for the treatment of Huntington's disease

AdoptedReference Number: EMA/828668/2017

Key facts

• Active substance:
  Adeno-associated viral vector serotype 5 encoding a microRNA targeted to human huntingtin gene
• Intended use:
  Treatment of Huntington’s disease
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/17/1957
• Date of designation:
  17/01/2018
• Sponsor:

  uniQure biopharma B.V.; Paasheuvelweg 25; 1105 BP; Amsterdam; The Netherlands; Tel. [phone]; E-mail: [e-mail]