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Orphan designation

On 4 July 2012, orphan designation (EU/3/12/1016) was granted by the European Commission to Biogenera srl, Italy, for 16-base single-stranded peptide nucleic acid oligonucleotide linked to 7-amino acid peptide for the treatment of neuroblastoma.

In February 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 neuroblastoma?

Neuroblastoma is a cancer of nerve cells which is usually seen as a lump in the abdomen (belly area) or around the spine. Symptoms may include weakness, bone pain, loss of appetite and fever. Neuroblastoma is the most common solid tumour outside the brain in children. In many cases it is present at birth but is diagnosed later when the cancer has spread to other parts of the body and the child begins to show symptoms of the disease.

Neuroblastoma is a long-term debilitating and life-threatening disease that is associated with poor long-term survival.

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

At the time of designation, neuroblastoma affected not more than 0.18 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 9,200 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).

*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 509,000,000 (Eurostat 2012).

What treatments are available?

At the time of designation, several medicines were authorised in the EU for the treatment of neuroblastoma. Treatments for neuroblastoma included surgery, chemotherapy (medicines to treat cancer) and radiotherapy (treatment with radiation).

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with neuroblastoma because early studies in experimental models show that it works in a different way to existing medicines and might be used in addition to other treatments. 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?

This medicine is expected to work by attaching to and blocking the gene responsible for producing a protein called N-Myc, which is involved in the growth, progression and spread of neuroblastomas. By blocking the gene, the medicine blocks the production of the N-Myc protein. This is expected to stop the neuroblastoma 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 the medicine in experimental models was ongoing.

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

At the time of submission, the medicine was not authorised anywhere in the EU for neuroblastoma 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 11 May 2012 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 7-amino acid peptide</p>
Active substance16-base single-stranded peptide nucleic acid oligonucleotide linked to 7-amino acid peptide
Medicine Name
Disease/conditionTreatment of neuroblastoma
Date of decision04/07/2012
Orphan decision numberEU/3/12/1016

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.