Project: The development of a method for the, accurate, non-invasive diagnosis of foetal aneuploidies.

Down syndrome is a chromosomal disorder that results in an extra 21st chromosome. This affects about 1 in 800 babies. Current tests on pregnant women to determine if their foetus has Down syndrome carry a relatively high risk of miscarriage and misdiagnosis. As a result, there is a real need to create an accurate, non-invasive test for Down syndrome for expectant mothers. We have created such a test that is highly accurate and non-invasive, called DAZZLE, that is based on the presence of free foetal DNA in maternal blood. The test is based on analysis of a simple blood sample taken from the expectant mother. It carries very low risk, generates results very quickly and can be used early in pregnancy (1st Trimester). This can potentially replace currently used invasive tests such as the AMNIOCENTESIS (‘Amnio') test which require that a needle is inserted through the abdomen to remove a small amount of amniotic fluid. As a result, the Amnio test carries a relatively high risk of miscarriage._x000D__x000D_DAZZLE therefore has the potential to meet the needs of the clinicians and patients and create a massive market opportunity. However, for us to achieve this, we have to overcome significant developmental and commercial challenges that will enable us to develop a non-invasive In-Vitro Diagnostic (IVD) kit that allows an accurate detection (>95% specificity and sensitivity) of chromosomal abnormalities, with a particular focus on chromosome 21 aneuploidy (Down Syndrome) from maternal blood samples, allowing accurate diagnosis._x000D__x000D_The Eurostars consortium consists of two organisations:_x000D__x000D_Zoragen Biotechnologies LLP (UK): Are a dynamic company that undertakes proof-of-concept research work, specialising in the creation of innovative IP in the area of non-invasive prenatal diagnostics (NIPD) for global commercialisation. _x000D__x000D_Molgentix SL (Spain): Are a high-tech company dedicated to the manufacturer of CE accredited IVD kits for molecular diagnostics and are very strongly position in the Spanish and EU markets to exploit the technology._x000D__x000D_In vitro diagnostics (IVDs) are those tests performed on biological samples to diagnose or rule out a disease. The EU market for IVDs in 2005 was ~€9 billion and is expected to be >€12 billion by end 2010. It is a highly segmented market with diagnostic products ranging from highly automated centralised laboratories to simple tests performed in the home. The market segment that is initially addressed by our Consortium is molecular diagnostics, which is currently the fastest growing IVD sector with an annual growth rate of 14%. The 2005 European sales of molecular diagnostics were approximately €1 billion, and are expected to be over €2 billion by end 2010. Further afield, the 2006 revenues for genetic testing in the USA alone were in excess of $850 (€630) million. The trend in prenatal diagnostics is moving away from invasive procedures toward non-invasive procedures. Specifically of relevance to the Zoragen technology, there is an urgent need within the medical community to shift more prenatal testing to the first trimester for earlier diagnosis._x000D__x000D_Additionally, an increasing number of pregnancies (currently 5-10%) are termed “high-risk”. This is because the number of women giving birth after age 35, the highest-risk group for Down syndrome, is increasing at a rate of 1.5% each year. To this end, many professional healthcare organisations are now recommending that all pregnant women be screened for Down syndrome. In the high risk category, there are over 375,000 prenatal tests undertaken each year in the US alone costing over $100 (€76) million p.a. Of these, ~125,000 are amniocentesis procedures. Further, it is estimated that, there are ~700,000 annual amniocentesis procedures in the USA and EU, representing a market opportunity of $450 (€345) million p.a. The non-invasive nature of our test method suggests that the market may extend to low risk pregnancies with the potential for 2.6 million tests per annum in the USA and a similar number in the EU._x000D__x000D_DAZZLE can be carried out on a standard Polymerase chain reaction (PCR) machine, readily available in hospitals, typically costing €30,000-36,000 per machine. Therefore, the cost of the DAZZLE (once it has been established across the EU) is expected to be ~€200-330 per test, cheaper than other currently available invasive tests such as amnio (€760 per test) and comparable to the much less accurate (~75%) non-invasive tests such as the quad test (€68–200 per test). The DAZZLE technology, therefore, has massive potential advantages over current testing methods such as amnio and quad. We have already received significant interested from EU clinicians, including Dr Paul Chamberlain, Director of Foetal Medicine Unit, Nuffield Department of Obstetrics and Gynaecology. If we can achieve the required technical specifications and sales costs for the technology, our consortium will be able to achieve revenue income / sales of €32,000,000 by 2017.

Acronym	DAZZLE (Reference Number: 6094)
Duration	01/03/2011 - 28/02/2014
Project Topic	The development of an world-leading, non-invasive, In-Vitro Diagnosis for testing of foetal chromosomal abnormalities such as Down Syndrome from a maternal blood sample that will significantly reduce the risks of miscarriage.
Project Results (after finalisation)	_x000D_ The design of the cfDNA method for the non invasive detection of aneuploidies has been approved, we are at an advanced stage in the process of clinical validation for the CE marking prior to its commercialization.
Network	Eurostars
Call	Eurostars Cut-Off 5

Project partner

Number	Name	Role	Country
2	Molgentix SL	Partner	Spain
2	Zoragen Biotechnologies LLP	Coordinator	United Kingdom