New Hope for Down’s Syndrome and Alzheimer’s

Jessica Gwinn
By Jessica GwinnSeptember 12, 2013

Scientists have long known that people born with Down’s Syndrome ultimately develop Alzheimer’s disease. But what scientists haven’t known is why. As new and ongoing studies indicate, there are some promising clinical trials and experimental therapies that may shed new light on the possibility of not only repressing the extra chromosome 21 in Down’s Syndrome people but also halting, or even stopping, Alzheimer’s disease.

Exploring the Link Between Dementia and Down’s Syndrome

Identifying the correlation between early onset dementia in Down’s Syndrome and people who develop Alzheimer’s disease is a big step towards understanding the bigger picture. They both have more of a protein called amyloid beta that leads to the plaques that develop on the brain and destroy brain cells. So what can be done about it?

Pharmaceutical giant, Johnson & Johnson has commissioned a three-year pilot study into people with Down syndrome as it believes it could lead to new drug developments for Alzheimer’s suffers.

J&J’s neuroscience drug development global head, Dr. Husseini Manji, said, “The study would provide insight into treating Alzheimer’s, but it might help individuals with Down syndrome as well.”

Last fall, experts in Down syndrome and Alzheimer’s who gathered in Chicago for a workshop on the idea at the Alzheimer’s Association say it may offer the best scientific model yet for testing drugs to prevent the degenerative brain disease.

Another study currently about to enter into clinical trials, led by Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital in Boston, will explore an experimental therapy in Down syndrome volunteers. The trial will look at the impact of scyllo-inositol, a drug developed by the Elan Corporation that is designed to block plaque formation and to pump up the levels of a compound that appears to nourish cells of all sorts.

As a possible side effect, the drug might also improve the intellectual functioning of those with Down syndrome.

“It’s a tantalizing and provocative question: Do people with Down syndrome hold the key to the mystery of Alzheimer’s development?” Dr. Brian Skotko, co-director of the Down Syndrome Program at the Massachusetts General Hospital in Boston, said in a telephone interview. “And what can we learn from those with Down syndrome that will benefit the rest of the population?”

A Complicated Correlation

People who have Down syndrome have an extra copy of chromosome 21 instead of two copies as seen in the general population.  This chromosome plays a key role in the relationship between Down syndrome and Alzheimer’s disease.

“The correlation may sound simple but it is actually complex,” adds LonDown’s consortium leader, Andre Strydom, a consultant psychiatrist based at University College London. “Yes, 50% of Down’s patients get Alzheimer’s by the time they are 65, so there is a link. By the same token, however, the other 50% do not. And that observation is just as important, if not more important, for our work. It shows there are other factors involved in the causation of the disease other than the plaques that appear in their brains. Other influences are modifying or accentuating the condition. And it is the hunt for these modifiers that will dominate our work for the next five years.”

What the Future May Hold

As Maria Shriver reports in this video, while many Down’s Syndrome loved ones are thrilled at the idea of progress towards a cure, others are skeptical to allow their family member to enter into a drug study due to unknown and unpredictable effects on personality, among other things.

There’s a lot of work still to be done, but the awareness together with these efforts in developing new drug therapies is an exciting step in the right direction.

What Does This Mean For You?

Unfortunately, not a lot right now. But it does give us all a greater sense of hope. In the meantime, preventative measures and living as healthy as possible with Alzheimer’s are still the best bets for treating this disease.

For now, knowing that Alzheimer’s is not an isolated disease, that the augmented focus on the brain of people with Down’s Syndrome as well as their early onset dementia, will help further research and greater understanding on the path to a cure for both.

“We’ve learned that prevention and treatment in the earliest stages is probably our best way to battle this disease,” Lemere told TODAY. “And we know that everybody with Down syndrome will eventually develop Alzheimer’s disease — or at least the changes in the brain. So we know that this is now another population where we can perhaps go in and test therapies very early in the disease as a prevention.”

The more we share about our knowledge, the greater our shared sense of hope.

What can you do to help other people who share this disease? What will you do to help keep the conversation going during Alzheimer’s Month and beyond?

Jessica Gwinn

Jessica Gwinn

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