On 22 September 2008, orphan designation (EU/3/08/571) was granted by the European Commission to ADIENNE S.r.l., Italy, for recombinant human minibody against complement component C5 for the treatment of atypical haemolytic uraemic syndrome (aHUS) associated with an inherited abnormality of the complement system.
- What is atypical haemolytic uraemic syndrome (aHUS) associated with an inherited abnormality of the complement system?
Haemolytic uraemic syndrome (HUS) is a disorder characterised by haemolysis (destruction of red blood cells), thrombocytopenia (a decrease in the number of platelets, components that help the blood to clot), problems with blood clotting and kidney failure. In contrast to most types of HUS, which occur in children after an infection with gut bacteria, atypical HUS (aHUS) affects both children and adults, and is not caused by an infection. More than half of the cases of aHUS are thought to be caused by inherited (inborn) abnormalities of the complement system, a group of proteins in the blood that help the immune system (the body’s natural defence system) to fight infections. In patients with aHUS, the complement system is overactive and damages the cells lining the blood vessels.
aHUS can be long term, or can keep coming back (relapsing). The condition is long lasting and life-threatening because of the risk of kidney failure.
- What is the estimated number of patients affected by the condition?
At the time of designation aHUS associated with an inherited abnormality of the complement system affected approximately 0.1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 5,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 502,282,000 (Eurostat 2008).
- What treatments are available?
At the time of submission of the application for orphan drug designation, only supportive treatments for aHUS associated with an inherited abnormality of the complement system were available. Transfusions of red blood cells and platelets were given as needed. Dialysis (a blood clearance technique) may be needed if the disease progresses to kidney failure. Some patients may receive infusion of plasma or a therapy called plasma exchange although its role in this condition is not completely clear. Some patients may need a kidney transplant.
- How is this medicine expected to work?
Recombinant human minibody against complement component C5 is an antibody that has been designed to attach itself to a protein called component C5 of the complement system. In aHUS, the complement component C5 plays an important role for the activation of the complement system, ultimately leading to the damage of the cells lining the blood vessels. By binding to the complement component C5, the antibody prevents the activation of the complement system. This is expected to reduce the damage to the cells lining the blood vessels and the symptoms of the disease.
- What is the stage of development of this medicine?
At the time of submission of the application for orphan designation, the evaluation of the effects of recombinant human minibody against complement component C5 was ongoing in experimental models. No clinical trials in patients with aHUS associated with an inherited abnormality of the complement system had been started.
At the time of submission, recombinant human minibody against complement component C5 was not authorised anywhere in the world for the treatment of aHUS associated with an inherited abnormality of the complement system, or designated as 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 9 July 2008 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 Community) 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.
|Name||Language||First published||Last updated|
|EU/3/08/571: Public summary of positive opinion for orphan designation of recombinant human minibody against complement component C5 for the treatment of atypical haemolytic uraemic syndrome (aHUS) associated with an inherited abnormality of the complement system||(English only)||02/04/2009||18/11/2010|
|Active substance||Recombinant human minibody against complement component C5|
|Disease/condition||Treatment of atypical haemolytic uraemic syndrome (aHUS)|
|Date of decision||22/09/2008|
|Orphan decision number||EU/3/08/571|
Review of designation
Sponsor’s contact details:
Via Broseta 64/B
Telephone: +39 035 199 64047
Telefax: +39 035 258 672
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.