NeuRA Magazine #30

OUR PURSUIT TO PREVENT ALZHEIMER’S

For the past 11 years, NeuRA has played a key role in the groundbreaking international research program, DIAN (Dominantly Inherited Alzheimer Network). The program has researchers, clinicians and families from over 26 countries working together to study how Alzheimer’s develops and learn how it can be treated.

They are doing this by studying a rare form of Alzheimer’s disease called Dominantly Inherited Alzheimer’s Disease (DIAD). Sadly, there is a 50 per cent chance that the children of someone with DIAD will develop the same disease. But the high prevalence of Alzheimer’s among this group means researchers can begin treatment early to see whether their intervention methods are stopping the disease among trial participants. NeuRA is part of a clinical trial program called DIAN-TU, which is looking at whether certain drugs can prevent the deposition of amyloid in the brain. A significant amount of amyloid is typically found in people who develop Alzheimer’s.

“I’ve been working with a small but committed group of Australian families in this trial for many years and have got to know some of them very well,” said NeuRA’s investigator Dr Bill Brooks.

“These people are going to extraordinary lengths to participate in our trials, and I am very thankful for their commitment. Through their assistance, we hope to discover how to prevent Alzheimer’s in Australia and internationally.”

DIAD is unique because it is the only situation where Alzheimer’s disease has a single known cause, which in this case is a harmful gene. People in these families who inherit the disease-causing gene usually develop symptoms when aged between their thirties and fifties, which is about 35 years earlier than the typical onset age of Alzheimer’s disease.

“It’s tragic that so many people with DIAD may not live past the age of 60. But these people also give us hope because they may hold the key to discovering how we can prevent Alzheimer’s from occurring. My aspiration is that everyone suffering from or touched by Alzheimer’s will one day receive better treatment that reduces the growth and impact of this disease,” Dr Brooks said.

Researchers anticipate the results from the global DIAN-TU study will be available next year.

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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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