EU/3/01/056: Orphan designation for the treatment of Niemann-Pick disease

Recombinant human acid sphingomyelinase (also known as olipudase alfa)


On 5 December 2016, orphan designation (EU/3/01/056) was granted by the European Commission to Genzyme Europe BV, the Netherlands, for recombinant human acid sphingomyelinase (also known as olipudase alfa) for the treatment of Niemann-Pick disease.

The medicinal product (for orphan indication in case of several orphan indications or type II variation) has been authorised in the EU as Xenpozyme since 24 June 2022.

Key facts

Active substance
Recombinant human acid sphingomyelinase (also known as olipudase alfa)
Intended use
Treatment of Niemann-Pick disease
Orphan designation status
EU designation number
Date of designation

Genzyme Europe BV
Paasheuvelweg 25
1105 BP Amsterdam
The Netherlands
Tel. +31 20 245 3344

Review of designation

The Committee for Orphan Medicinal Products reviewed the orphan designation of Xenpozyme at the time of marketing authorisation, and confirmed that the orphan designation should be maintained.

More information is available in the orphan medicine assessment report.

Update history

Date Update
November 2018 The sponsor's address was updated in November 2018.

Documents related to this orphan designation evaluation

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

EU register of orphan medicines

The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:

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