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Orphan designation

On 27 September 2011, orphan designation (EU/3/11/911) was granted by the European Commission to ACE Biosciences A/S, Denmark for recombinant human galactocerebrosidase for the treatment of globoid cell leukodystrophy.

What is globoid cell leukodystrophy?

Globoid cell leukodystrophy (also known as Krabbe disease) is a hereditary disease that is caused by the lack of an enzyme (a specialised type of protein) called galactocerebrosidase (GALC). This enzyme is needed to break down certain fatty substances in the brain including two lipid substances called galactosylceramide and psychosine. The accumulation of these substances is thought to destroy the cells that produce myelin, the protective sheath that surround the nerve cells, resulting in nerve damage in the brain and other parts of the body. The disease can occur in infancy (early onset) or later in life (late onset). The symptoms can include extreme irritability, seizures, loss of vision, developmental delay, and problems controlling and coordinating muscular movements.

Globoid cell leukodystrophy is a long-term debilitating disease that can be life-threatening particularly in the early onset form which typically leads to death in early infancy.

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

At the time of designation, globoid cell leukodystrophy affected less than 0.1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 5,000 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).

*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. This represents a population of 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for treating globoid cell leukodystroghy. Haematopoietic (blood) stem-cell transplantation (a complex procedure where the patient receives stem cells from a matched donor) had been used in some patients to replace the missing enzyme.

How is this medicine expected to work?

Recombinant human galactocerebrosidase is an enzyme replacement therapy that is expected to work by replacing the missing enzyme in globoid cell leukodystrophy, helping to break down galactosylceramide and stopping it building up in the body. The medicine is produced by a method known as ‘recombinant DNA technology’: it is made by human cells that have received a gene (DNA), which make them able to produce the enzyme.

What is the stage of development of this medicine?

The effects of recombinant human galactocerebrosidase have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with globoid cell leukodystrophy had started.

At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of globoid cell leukodystrophy 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 2011 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 galactocerebrosidase</p>
Active substanceRecombinant human galactocerebrosidase
Medicine Name
Disease/conditionTreatment of globoid cell leukodystrophy (Krabbe disease)
Date of decision27/09/2011
Orphan decision numberEU/3/11/911

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:

ACE BioSciences A/S
Roskildevej 12C
DK-3400 Hillerød
Telephone: + 45 4825 0054
Telefax: + 45 4825 1054

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.