EU/3/04/260

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Orphan designation

On 26 January 2005, orphan designation (EU/3/04/260) was granted by the European Commission to Zymenex A/S, Denmark, for recombinant human α-mannosidase for the treatment of α-mannosidosis.

The sponsorship was transferred to Chiesi Farmaceutici S.p.A., Italy, in January 2015.

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

What is α-mannosidosis?

α-mannosidosis is an inherited disease leading to an accumulation of oligosaccharides (small molecules composed of sugars) in the body. α-mannosidosis is due to a lack of α-mannosidase, an enzyme (a protein that speed up the conversion of certain substances into other substances) needed for the breaking down of oligosaccharides. The most severe form (type 1) occurs before 1 year of age. Clinical features include deafness and profound mental retardation. The juvenile/adult form (type 2) is less severe. Milder mental retardation occurs later, but hearing loss is a prominent feature. α-mannosidosis is chronically debilitating and life-threatening.

What is the estimated number of patients?

At the time of designation, α-mannosidosis affected approximately 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of around 470 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 25), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 466,600,000 (Eurostat 2005).

What treatments are available?

At the time of submission of the application for the orphan drug designation there was no treatment authorised in the European Union. Treatment of α-mannosidosis included supportive care and bonemarrowtransplantation.

How is this medicine expected to work?

It is assumed that, once admininistrated to the patient, recombinant human α-mannosidase will act as the original α-mannosidase and break down the oligosaccharides, thus preventing the negative effects due to their accumulation in the body. 

What is the stage of development of this medicine?

The evaluation of the effects of recombinant human α-mannosidase in experimental models is ongoing. 

At the time of submission of the application for orphan designation, no clinical trials in patients with α-mannosidosis were initiated.

Recombinant human α-mannosidase was not marketed anywhere worldwide for α-mannosidosis or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 December 2004 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>Recombinant human alpha-Mannosidase</p>
Active substanceRecombinant human alpha-Mannosidase
Medicine Name
Disease/conditionTreatment of alpha-mannosidosis
Date of decision26/01/2005
OutcomePositive
Orphan decision numberEU/3/04/260

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

Chiesi Farmaceutici S.p.A.
Via Palermo 26/A
43122 Parma
Italy
Tel. +39 0521 279793
Fax +39 0521 774120
E-mail: info@chiesigroup.com

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.