• Email
  • Help

Orphan designation

On 26 August 2005, orphan designation (EU/3/05/307) was granted by the European Commission to MDS Pharma Services GB Limited, United Kingdom, for mecasermin for the treatment of primary growth hormone insensitivity syndrome.
The sponsorship was transferred to Tercica Europe Limited, Ireland, in December 2005 and subsequently to Ipsen Pharma, France, in September 2009.

According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 13 July 2005 a positive opinion recommending the grant of the above-mentioned designation.

What is primary growth hormone insensitivity syndrome?

Primary growth hormone insensitivity syndrome is a growth disorder. The growth hormone (GH) is a natural hormone secreted (produced) in the body and responsible for the maturation and growth of the human body. In order to activate the cascade of molecular reactions which induce (stimulate) the biological activity of growth, the GH needs to bind to specific structures on the surface of cells: the GH receptors. Sometimes these GH receptors are defective and unable to respond to GH, in other words, the receptor is “insensitive” to the hormone, which is the case in patients with primary growth hormone insensitivity syndrome. The reason why these receptor defects occur is unknown.
Other reactions which are normally induced by the link of the GH to its receptor, and which are thus fundemental for the growth of the human body, can be defective in primary growth hormone insensitivity syndrome patients. The insulin-like growth factor-1 (IGF-1) production is one of these reactions. IGF-1, in fact, is crucial for stimulating body growth. Primary growth hormone insensitivity syndrome is a serious chronically debilitating condition.

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

At the time of designation, primary growth hormone insensitivity syndrome affected not more than 1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of not more than 46,000 people, and is below the threshold for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and 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. This represents a population of 459,700,000 (Eurostat 2004).

What treatments are available?

There were no approved treatments available for primary growth hormone insensitivity syndrome at the time the application was made.

How is this medicine expected to work?

Mecasermin is a recombinant (artificially sinthesised) human insulin-like growth factor-1. Once administered in primary growth hormone insensitivity syndrome patients, mecasermin is expected to replace the natural IGF-1 in the body, thus compensating the lack of this factor. Mecasermin could thereby produce similar effects on body growth to IGF-1’s.

What is the stage of development of this medicine?

The effects of mecasermin were evaluated in experimental models. At the time of submission of the application for orphan designation, clinical trials in patients were ongoing.

Mecasermin was not authorised anywhere worldwide for primary growth hormone insensitivity syndrome, at the time of submission. Orphan designation of mecasermin was granted in the United States for growth hormone insensitivity syndrome in December 1995.

Opinions on orphan medicinal products designations are based on the following cumulative criteria: 
  • the seriousness of the condition;
  • the existence or not 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 Community) or insufficient returns on investment.

Designated orphan medicinal products are still investigational products which were considered for 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 will be necessary before this product can be granted a marketing authorisation.

Key facts

Product details for <p>Mecasermin</p>
Active substanceMecasermin
Medicine Name
Disease/conditionTreatment of primary growth hormone insensitivity syndrome
Date of decision26/08/2005
Orphan decision numberEU/3/05/307

Review of designation

Sponsor’s contact details:

Tercica Europe Limited
Riverside 1
Sir John Rogerson's Quay
Dublin 2
Telephone: +353 1 607 1335
Telefax: +353 1 829 00 10

Patients’ associations contact points:

Child Growth Foundation
2 Mayfield Avenue
W4 1PW
United Kingdom
Telephone: +44 20 89 95 02 57 / +44 20 89 94 76 25
Telefax : +44 20 89 95 90 75

APPT : Association des Personnes de Petite Taille
35 Avenue d'Alfortville
94600 Choisy-le-Roi
Telephone: +33 1 48 52 33 94
Telefax: +33 1 40 57 83 43

BKMF : Bundesverband Kleinwüchsige Menschen und ihre Familien e.V.
Hillmannplatz 6
28195 Bremen
Telephone: + 49 421 50 21 22
Telefax: +49 421 50 57 52