EU/3/15/1491 - orphan designation for treatment of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

adeno-associated viral vector serotype 9 containing the human HGSNAT gene

Overview

On 21 May 2015, orphan designation (EU/3/15/1491) was granted by the European Commission to Cochamo Systems Ltd, United Kingdom, for adeno-associated viral vector serotype 9 containing the human HGSNAT gene for the treatment of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

The sponsorship was transferred to Cochamo Pharma Limited, Ireland, in April 2019.

What is mucopolysaccharidosis IIIC?

Mucopolysaccharidosis type IIIC (also known as Sanfilippo C syndrome) is an inherited disease that is caused by the lack of a substance called heparin-alpha-glucosaminide N-acetyltransferase (HGSNAT). This enzyme is needed to break down a substance in the body called heparan sulphate.

Because patients with mucopolysaccharidosis type IIIC cannot break this substance down, it gradually builds up in cells in the body, particularly in the brain, and damages them. The disease is usually diagnosed in children between two and seven years of age.

Mucopolysaccharidosis type IIIC is a seriously debilitating and life-threatening disease because it leads to a decline in mental abilities, behavioural problems, hyperactivity, seizures (fits), hearing loss, difficulty swallowing and frequent infections of the airways. The disease usually leads to death in the patient's thirties or in their fifties and sixties for those with milder forms of the condition.

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

At the time of designation, mucopolysaccharidosis type IIIC affected approximately 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of around 26,000 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).

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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 512,900,000 (Eurostat 2015).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for treating mucopolysaccharidosis type IIIC. Patients received supportive treatment to temporarily relieve the symptoms of the disease, such as physiotherapy and antiepileptic medicines to treat seizures.

How is this medicine expected to work?

This medicine is made of a virus containing the gene for the HGSNAT enzyme, which is lacking in patients with mucopolysaccharidosis type IIIC. When injected into the brain of the patient, the virus is expected to carry the gene into the nerve cells, enabling the cells to start producing HGSNAT. As a result the cells will be able to break down the accumulated heparan sulphate, thereby helping to 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 of the application for orphan designation, no clinical trials with the medicine in patients with mucopolysaccharidosis type IIIC had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for mucopolysaccharidosis type IIIC 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 16 April 2015 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/3/15/1491: Public summary of opinion on orphan designation: Triamcinolone acetonide for the treatment of non-infectious Adeno-associated viral vector serotype 9 containing the human HGSNAT gene for the treatment of mu...

Adopted Reference Number: EMA/COMP/280636/2015

Key facts

• Active substance:
  adeno-associated viral vector serotype 9 containing the human HGSNAT gene
• Intended use:
  Treatment of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/15/1491
• Date of designation:
  21/05/2015
• Sponsor:

  Unit 3d North Point House; North Point Business Park; New Mallow Road; Cork; T23 AT2P; Ireland; Tel. [phone]; E-mail: [e-mail]

Review of designation

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