NeuRA Magazine #28

GLOBAL COLLABORATION DRIVES NEW BLOOD TEST TO PREDICT GENETIC ALZHEIMER’S DISEASE

As part of the Dominantly Inherited Alzheimer Network (DIAN) NeuRA has collaborated on a publication in Nature Medicine, that details evidence for a blood test that can predict familial Alzheimer’s disease 16 years before clinical symptoms appear.

The DIAN study which has been running since 2008, received support funding for this phase of research from the National Institute of Ageing and the German Centre for Neurodegenerative Diseases.

It involves a global network of researchers, led by Professors John Morris and Randall Bateman at Washington University, St Louis, Missouri with study sites in the USA, England, Germany and three research teams in Australia based at NeuRA, The Florey Institute, and the Edith Cowen University in WA.

Together, researchers have been working with the rare families who carry the inherited Alzheimer’s disease genes to identify the biomarkers for potential predictive testing in the future.

“The DIAN study has allowed us to track families with the rare inherited Alzheimer’s gene,” says CEO of NeuRA, Professor Peter Schofield, who leads the Sydney site of the DIAN study.

This research has provided critical insight into the biomarkers for Alzheimer’s.

“Being able to identify a particular signature in the blood is the first step in the early detection and treatment of this devastating disorder of the brain,” says Professor Schofield.

The current collaborative research study, led by Professor Mathias Jucker of the German Centre for Neurodegenerative Diseases (DZNE) and the University of Tubingen Germany, has provided encouraging results that will drive the development of an early detection program for Alzheimer’s disease.

“We hope that a test could become part of a routine medical check-up in the future, providing a cost-effective and efficient early warning system for the disease,” says Professor Schofield.

“The NfL blood test accurately predicted when members of a family with inherited Alzheimer’s disease would begin to show symptoms,” says Professor Colin Masters AO from the Florey Institute, who leads the Melbourne site of the DIAN study.

Neurofilament light chain, or NfL, is a crucial building block of brain cells. When these cells start to die in Alzheimer’s disease, traumatic brain injury or in other neurodegenerative diseases, this building block is released into the bloodstream. The period at which NfL showed the fastest build-up was a key time when patients converted from presymptomatic disease into cognitive and memory decline.

“NfL levels rise whenever the brain is damaged, and as Alzheimer’s disease affects 30 per cent of people over the age of 80, we hope that NfL will become part of a GP’s standard battery, like annual cholesterol testing. We would send patients off for more specific Alzheimer’s tests if the results come back showing a cause for concern,” says Professor Masters.

“Next steps for the test include replicating the results in sporadic Alzheimer’s disease patients, who are older and often have other health issues,” says Professor Schofield.

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Abdominal muscle stimulation to improve bowel function in spinal cord injury

Bowel complications, resulting from impaired bowel function, are common for people living with a spinal cord injury (SCI). As a result, people with a SCI have high rates of bowel related illness, even compared with those with other neurological disorders. This includes high rates of abdominal pain, constipation, faecal incontinence and bloating. These problems lower the quality of life of people with a SCI and place a financial burden on the health system. A treatment that improves bowel function for people with a SCI should reduce illness, improve quality of life and lead to a large cost saving for health care providers. Bowel problems have traditionally been managed with manual and pharmacological interventions, such as digital rectal stimulation, enemas, and suppositories. These solutions are usually only partially effective, highlighting the need for improved interventions. The abdominal muscles are one of the major muscle groups used during defecation. Training the abdominal muscles should improve bowel function by increasing abdominal pressure. During our previous Abdominal FES research with people with a SCI, we observed that Abdominal FES appeared to lead to more consistent and effective bowel motion. However, this evidence remains anecdotal. As such, we are going to undertake a large randomised controlled trial to investigate the effectiveness of Abdominal FES to improve the bowel function of people with a SCI. This study will make use of a novel measurement system (SmartPill, Medtronic) that can be swallowed to measure whole gut and colonic transit time. We will also assess whether Abdominal FES can change constipation-related quality of life and the use of laxatives and manual procedures, as well as the frequency of defecation and the time taken. A positive outcome from this study is likely to lead to the rapid clinical translation of this technology for people living with a SCI.
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