Roche announced in July that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Device Designation to Elecsys® ß-Amyloid (1-42) CSF and Elecsys® Phospho-Tau (181P) CSF. These in vitro diagnostic immunoassays are for the measurement of the ß-Amyloid (1-42) and Phospho-Tau concentrations in cerebrospinal fluid (CSF) in adult patients with cognitive impairment who are being evaluated for Alzheimer’s disease (AD) or other causes of dementia.
Currently, the diagnosis of AD is largely based on clinical symptoms, including cognitive testing, with a significant number of patients diagnosed when their disease has already advanced. A diagnosis of AD based on cognitive measures alone is only correct in 70 – 80 percent of cases. Measuring biomarkers with CSF immunoassays, associated with AD pathology, increases certainty of a diagnosis of AD and can help to evaluate the progression of the disease. The Breakthrough Device Designations are for indication of use with Elecsys β-Amyloid (1-42) CSF and Elecsys Phospho-Tau (181P) CSF in concordance with amyloid PET visual read result and risk of cognitive or functional decline. The Breakthrough Devices Program is a voluntary program for certain medical devices that provide for more effective treatment or diagnosis of a life-threatening or irreversibly debilitating disease or condition. This program is designed to expedite the development and review of these medical devices.
“We are excited about FDA’s recognition of the potential clinical benefit the Elecsys CSF assays can bring to clinicians, laboratories and their patients in diagnosing AD at an early stage,” said Roland Diggelmann, CEO of Roche Diagnostics. “Roche was one of the first companies to use biomarkers in clinical trials and we will continue to explore high-performing diagnostic and disease-monitoring solutions.”

A genetic discovery will make treatment for Crohn’s disease and ulcerative colitis safer, by identifying patients who are at risk of potentially deadly drug side effects.
A ground-breaking and large-scale NHS research collaboration, led by the University of Exeter and the Royal Devon & Exeter NHS Foundation Trust, has discovered a gene mutation that allows the identification of patients at risk of a drug side effect, allowing clinicians to tailor alternative treatments to these individuals.
This finding will reduce the risk of drug side effects caused by treatment with thiopurines (consisting of azathioprine and mercaptopurine). This group of drugs is commonly used for the treatment of autoimmune and inflammatory diseases.
Crohn’s disease and ulcerative colitis (collectively known as inflammatory bowel disease –IBD) are incurable lifelong conditions that affect approximately 1 in 150 people in the UK. The main symptoms are urgent diarrhoea, often with rectal bleeding, abdominal pain, profound fatigue and weight loss. The condition disrupts people’s education, working, social and family life. Drugs to suppress the immune system are the mainstay of treatment, however more than half of patients with Crohn’s Disease and about 20 per cent of patients with ulcerative colitis will require surgery at some point. The lifetime medical costs associated with the care of a person with IBD are similar to the costs of treating diabetes or cancer.
About a third of patients with IBD are treated with a thiopurine drug, however, approximately 7 per cent of patients develop an adverse reaction called “bone marrow suppression”. This means that the body’s immune system is less able to fight infection and patients are at risk of sepsis.
Previous studies have identified mutations in a gene known as TPMT, which predisposes patients to thiopurine-induced bone marrow suppression. Clinicians either adjust the dose or avoid thiopurines altogether if routine tests show that patients are likely to carry faulty versions of the TPMT gene. However, only a quarter of patients who suffer from bone-marrow suppression have abnormalities in TPMT, suggesting that other genes may be involved.
Through the National Institute of Health Research Clinical Research Network, 82 NHS hospitals in the UK recruited patients to the study. In addition patients were recruited from international collaborators in the Netherlands, USA, Australia, France, New Zealand, South Africa, Malta, Denmark, Sweden, Italy and Canada. The Exeter IBD Research Group also recruited UK patients via the Medicines and Healthcare products Regulatory Agency (MHRA) Yellow Card Scheme, which collects reports of patients who have experienced complications of treatment.
DNA from approximately 500 patients with IBD that suffered thiopurine-induced bone marrow suppression and 680 controls (IBD patients who had received thiopurines and had no history of bone marrow suppression), were analysed to identify genes possibly associated with this adverse drug reaction.
The researchers found an association between mutations in a gene called NUDT15 and bone marrow suppression. This gene mutation had previously only been thought important in patients of East Asian descent.
Chief Investigator of the study, Dr Tariq Ahmad, of the University of Exeter Medical School, said: “In the largest genetic analysis into the side effects of thiopurine drugs we’ve discovered variation in a gene that can help us identify who is susceptible to thiopurine-induced bone marrow suppression. In line with the NHS 10 year plan to increase personalised medicine, testing for this genetic abnormality prior to prescribing thiopurine drugs will reduce the risks to patients, and costs to the NHS, associated with this potentially serious drug side effect.

Exeter Universitywww.exeter.ac.uk/news/research/title_706404_en.html

DNA mutations driving cancer development are caused by different mechanisms, each of them leaving behind specific patterns, or “scars” in the genome. Using CRISPR-Cas9 technology, researchers at CeMM and the Wellcome Trust Sanger Institute at Cambridge, UK were able to show for the first time in cell culture that specific genetic alterations indeed lead to the predicted pattern of mutational signatures observed in human cancers.
When a cell develops into a tumour, something has gone terribly wrong: the uncontrolled growth, invasion of nearby tissues and finally metastasis are the result of many consecutive DNA mutations. Such an accumulation of demolished genetic material often derives from initial environmental exposures, enzymatic activities or defects in DNA replication or DNA repair mechanisms. Each of those initial mutagenic conditions creates their own pattern of DNA damage called mutational signature. Deciphering them could theoretically allow us to trace back the initial cause of a tumour, profile its properties and help find a therapeutic strategy.
However, reading those mutational signatures in tumour samples is a difficult task, as the large amount of mutations that a patient acquires during its lifetime create a noisy and uncontrolled system – even the best clinical data will, at most, provide only associations. Therefore, the group of Joanna Loizou, Principal Investigator at CeMM in collaboration with researchers from the Wellcome Trust Sanger Institute, developed an experimental setup to validate the concept of mutational signatures in cell culture.
The findings of this study not only confirm an analytical principle that describes mutational processes and cancer development, mutational signatures are a direct mechanistic read-out of specific dysfunctions of a cell. Thus, even if the underlying gene defect is unknown, mutational signatures could be used as biomarkers for the molecular characterization of tumors – a new diagnostic tool to improve the precise and personalized treatment of cancer.

CeMM
cemm.at/news/

Digestive Cancers Europe has launched a campaign to promote colorectal cancer screening at the occasion of the start of European Colon Cancer Awareness Month (ECCAM). The event took place at the European Parliament and was hosted by MEP Lieve Wierinck (ALDE).
The Basque region, the Netherlands and Slovenia show the way…

Building on the successful 2018 theme #Time4Change, this year ECCAM will be focusing on making people aware of the benefits of detecting colorectal cancer early by taking the screening test which Digestive Cancers Europe believes may save an additional 130,000 lives every year.
Every year, 370,000 citizens in the European Union get a diagnosis of colorectal cancer and 170,000 of them die. Patients who are detected early (Stage I), have a chance of survival of 90% as compared to only 10% when detected in stage IV. Despite the fact that colorectal cancer evolves slowly, over a period of eight to ten years, the majority of patients are still detected in the late stage III & IV.
This makes the case for early screening an easy one, especially because the treatment of early-stage cancer is cheaper than late stage, and over 3 billion euro of savings could be generated in the healthcare system every year.

The campaign consists of three activities:

• #My Best 10 Seconds – The launch of a Public Awareness Campaign on the importance of getting screened. This social media campaign focuses on the little effort it takes to get screened and the huge life-saving impact it may have. A video shows other small daily things that take up ten seconds of anybody’s time. In colorectal cancer screening, this little effort may save one’s life.
• A White Paper on Colorectal Cancer Screening in Europe – the paper comes with ten policy recommendations to improve the current situation in the European Union. Only
• A Roadmap for Colorectal Cancer Screening. The publication offers a step-by-step approach on how to organize colorectal cancer screening campaigns at national level, based on the good results of Slovenia, the Netherlands and the Basque region in Spain.

The Public Awareness Campaign will be launched through social media in Finland, France, Italy, Portugal, Slovakia and Spain.  The video campaign is addressed at citizens of 50 and older. Ads will appear in news feeds on Facebook and as ‘pre-roll’ on YouTube, aiming to reach over 1 million citizens. National Associations will further amplify the efforts locally. Jola Gore-Booth, Executive Director comments: “ We want to make people aware that they can have control over their own life. Many people are still hesitant to test themselves, yet it’s clear that everybody older than 50 should get screened. The effort is minor, and there are no downsides to it. The testing is easy, as is colonoscopy. There is really no reason to risk one’s life by not participating in screening programmes. Still too many people wait. That’s why our campaign is so important.”
The White Paper highlights the fact that despite the commitment from all EU Ministers of Health in 2003, only three Member States (France, Ireland and Slovenia) have organized Formal Population-based Colorectal cancer screening programmes addressed to all citizens between 50 and 74 years old. The best outcomes were achieved in the Netherlands (citizens older than 55), Slovenia and the Basque country:

• Increase in early detection from 15% to 48% of the population
• Decrease in colorectal cancer mortality
• Overall cost saving in the healthcare system

If all Member States achieved the same results, the number of citizens detected with early-stage cancer could be improved from 55,000 to 185,000, and therefore significantly increasing chances of survival. Every year. Stefan Gijssels, Executive Director comments: “ There is no rational reason not to organize formal national screening campaigns. It saves lives and money. The major barrier we see is a political one. It takes a lot of effort and time to organize, and screening campaigns require a sustained effort. The financial savings in the healthcare budget may only be visible ten years after the start, but the upside in the number of lives saved should justify screening. As we have seen, the quality of the screening programme is critical to its success. Luckily, several Member States are starting now to have a more professional approach to screening. We can assist them if needed.”
Digestive Cancers Europe represents 40 National Associations in 30 European countries and is active in the areas of esophageal, gastric, pancreatic, colon, rectum and rare cancers of the digestive tract. The Organization collaborates with Pancreatic Cancer Europe.
European Colorectal Cancer Awareness Month was established in 2008 as an Annual Awareness Raising initiative by EuropaColon, which  has now expanded to become Digestive Cancers Europe (DiCE). The Organization will give a voice to people living with all types of digestive cancer (including colorectal cancer, gastric cancer, esophageal cancer, pancreatic cancer and rare gastrointestinal cancers).
All the materials of the campaign are available on www.mybest10seconds.com