EU/3/05/334 - orphan designation for treatment of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome)
OrphanHuman
Overview
On 14 December 2005, orphan designation (EU/3/05/334) was granted by the European Commission to Mr Eric Lucien, France, for human immunoglobulin G1 constant region - human ectodysplasin-A1 receptor-binding domain fusion protein for the treatment of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome).
The sponsorship was transferred to Apoxis (UK) Ltd, United Kingdom, in August 2006 and subsequently to Edimer Ltd, United Kingdom, in November 2009.
The sponsorship was transferred to Florence Porte Thomé, France, in May 2018.
Initially, the human embryo is made of three layers of cells (ectoderm, mesoderm and endoderm). Each layer will then proceed to further differentiate (the process cells undergo as they progress into mature cells) into organs and tissues specific for that particular layer. The ectoderm gives rise to the epidermis (e.g. the upper layer of the skin, sweat glands, breast glands, hair and nails and a part of the mouth) and neural tissue (e.g. the nerves, brain tissue). X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is a hereditary disease characterised by an abnormal development of the organs and tissues derived from the ectoderm. Genes located on structures present in each cell of the body (the chromosomes), carry the genetic information that determines the characteristics of each individual. In humans, the so-called X and Y-chromosomes determine the sex, but carry also other genetic information. X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is caused by an abnormality of a gene located on the X chromosome. This gene is responsible for the production of a protein, ectodysplasin-A1, that induces a series of actions needed to develop the ectoderm layer into the different mature normal cells and tissues. This protein is missing in patients affected by the condition. As boys, contrary to girls, only have one single copy of chromosome X, thus one single copy of this gene, they have much higher probabilities of suffering from the syndrome.
Patients affected by the condition cannot control their body temperature through sweating, lack normal hair, have an abnormal development of their mouth and teeth, etc. X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is a life-threatening disease that increases the risk of death.
At the time of designation, X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) affected less than 0.1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 4,600 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 the knowledge of the Committee for Orphan Medicinal Products (COMP).
There is at present no satisfactory treatment that has been authorised in the Community for patients affected by the condition.
Human immunoglobulin G1 constant region - human ectodysplasin-A1 receptor-binding domain fusion protein is a protein with two components: the first part is a part of a human immunoglobulin (immunoglobulins are specific proteins that play an important role in the defence mechanism) and is necessary to maintain the funcional structure of the product, while the second part is the part of the lacking protein in Christ-Siemens-Touraine Syndrome. The product is expected to replace the lacking protein ectodysplasin-A1 and to be able to induce the normal development of the tissues deriving from the ectoderm.
The effects of human immunoglobulin G1 constant region - human ectodysplasin-A1 receptor-binding domain fusion protein were evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials in patients with X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) were initiated.
The medicinal product was not authorised anywhere worldwide for X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) or designated as orphan medicinal product elsewhere for this condition, at the time of submission.
According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 24 October 2005 a positive opinion recommending the grant of the above-mentioned designation.
- 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 European Union) 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
- Intended use
- Treatment of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome)
- Orphan designation status
- Positive
- EU designation number
- EU/3/05/334
- Date of designation
- Sponsor
agnes jaulent
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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: