On 14 February 2001, orphan designation (EU/3/01/018) was granted by the European Commission to Genzyme B.V., The Netherlands, for recombinant human acid α-glucosidase for the treatment of glycogen storage disease type II (Pompe’s disease). The sponsorship was transferred to Genzyme Europe BV, the Netherlands, in April 2002.
- What is glycogen storage disease type II (Pompe’s disease)?
Patients with glycogen storage disease type II (Pompe's disease) do not have enough of a protein called alpha-glucosidase. This protein is an enzyme, whose function is to break down glycogen (a “storage” carbohydrate) to glucose. If the protein is not present, glycogen builds up in certain tissues, such as the heart and muscle tissue (including the diaphragm, the main breathing muscle under the lungs). The progressive build-up of glycogen causes a wide range of signs and symptoms including progressive weakness of respiratory muscles and enlarged heart and liver. The condition is chronically debilitating and life-threatening.
- What is the estimated number of patients affected by the condition?
At the time of designation, glycogen storage disease type II affected approximately 0.137 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 6.940 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?
No medicinal products were authorised for the treatment of glycogen storage disease type II (Pompe’s disease) in the Community at the time of submission of the application for orphan drug designation. Current management is restricted to symptomatic treatment.
- How is this medicine expected to work?
α-Glucosidase is the enzyme (molecule that speeds up chemical reactions in the body) missing in patients with glycogen storage disease type II (Pompe’s disease). By replacing the deficient enzyme with a functioning one, recombinant human acid α-glucosidase, this medicine is expected to restore the normal break down of glycogen and ultimately improve the overall outcome of the patients.
- What is the stage of development of this medicine?
The effects of recombinant human acid α-glucosidase were evaluated in experimental models. At the time of submission of the application for orphan designation, one clinical trial in patients with glycogen storage disease type II (Pompe’s disease) was completed.
Recombinant human acid α-glucosidase was not marketed anywhere worldwide for treatment of glycogen storage disease type II (Pompe’s disease), at the time of submission. Orphan designation of recombinant human acid α-glucosidase was granted in the United States for the condition.
According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 19 December 2000 a positive opinion recommending the grant of the above-mentioned designation.
Update: recombinant human acid α-glucosidase (Myozyme) has been authorised in the EU since 29 March 2006 for long-term enzyme replacement therapy (ERT) in patients with a confirmed diagnosis of Pompe disease (acid α-glucosidase deficiency).
- 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;
- and either the rarity of the condition (affecting not more than five in 10,000 people in the Community) or the 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 the quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.
|Name||Language||First published||Last updated|
|EU/3/01/018: Public summary of positive opinion for orphan designation of recombinant human acid α-glucosidase for the treatment of glycogen storage disease type II (Pompe’s disease)||(English only)||15/06/2009||04/05/2012|
|Active substance||Recombinant human acid alpha-glucosidase|
|Disease/condition||Treatment of glycogen storage disease type II (Pompe's disease)|
|Date of decision||14/02/2001|
|Orphan decision number||EU/3/01/018|
Review of designation
Sponsor’s contact details:
Genzyme Europe BV
1411 DD Naarden
Telephone: +31 35 699 1200
Telefax: +31 35 694 3214
Patients’ associations contact points:
AGSD (UK) - The Association for Glycogen Storage Disease (UK)
9 Lindop Road, Altrincham
Telephone: +44 161 980 7303
Association Francophone des Glycogénoses
112 b Avenue de l'Eygala
Telephone: +33 4 76 41 06 64
Selbsthilfegruppe Glykogenose Deutschland e.V.
Telephone: +49 2365 93 14 06
Telefax: +49 2365 93 14 07