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Orphan designation

On 1 October 2010, orphan designation (EU/3/10/789) was granted by the European Commission to Biogenera srl, Italy, for 16-base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide for the treatment of medulloblastoma.

In March 2014, Biogenera srl changed name to Biogenera SpA.

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is medulloblastoma?

Medulloblastoma is a type of brain tumour that mainly affects children between the ages of three and eight years. The tumour develops in the cerebellum (a region at the bottom of the brain), but may spread to other parts of the brain. The first symptoms of the disease are usually caused by the increased pressure within the skull, and include nausea (feeling sick) and vomiting, headache, ataxia (inability to co-ordinate muscle movements) and irritability.

Medulloblastoma is a debilitating and life-threatening disease because it severely damages the brain and is associated with poor long-term survival.

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

At the time of designation, medulloblastoma affected approximately 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 5,000 people*, and is below the threshold 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).

 *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 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 506,300,000 (Eurostat 2010).

What treatments are available?

At the time of designation, the main treatment for medulloblastoma was surgery to remove the tumour. This was usually followed by radiotherapy (treatment with radiation, which was only used in children above three years of age) and chemotherapy (medicines to treat cancer), to reduce the risk of the tumour coming back. Two anticancer medicines vincristine and carboplatin were specifically authorised for medulloblastoma in the EU.

The sponsor has provided sufficient information to show that the medicine ‘16-base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide’ might be of significant benefit for patients with medulloblastoma because it works in a different way to existing treatments and early studies in experimental models indicate that it might be used in combination with existing treatments to improve the outcome of patients with this condition. 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?

16-Base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide is expected to work by attaching to and blocking the gene responsible for producing a protein called MYCN. This protein is involved in the growth, progression and spread of medulloblastoma cells. By blocking the gene, the medicine blocks the production of the MYCN protein. This is expected to stop the medulloblastoma cells from growing and multiplying.

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 16-base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide in experimental models was ongoing.

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

At the time of submission, this medicine was not authorised anywhere in the EU for medulloblastoma 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 8 July 2010 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>16-base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide</p>
Active substance16-base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide
Medicine Name
Disease/conditionTreatment of medulloblastoma
Date of decision01/10/2010
Orphan decision numberEU/3/10/789

Review of designation

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

Sponsor’s contact details:

Biogenera SpA
Via Marconi 46
Porretta Terme 40046 (BO)
Tel. +39 051 6363063
Fax +39 051 6364492

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.