An experimental drug trial provides insight into early onset Alzheimer’s

The possibility of early onset Alzheimer’s can be higher for people with a specific genetic mutation in their family history. Around the world, some at high risk have signed up for an experimental that could lead to treatment and prevention of this devastating disease.


Once a year, Jeff Burrell flies to the Washington University Med School in St. Louis from his home in North Carolina for a series of tests and scans.

Researchers want to see what's happening in his brain.

My mother and all her brothers and my grandma passed away with early-onset Alzheimer's.

And by 'early onset,' he means his age -- 46.

If he misplaces his keys, it's hard to laugh it off as a 'senior moment.'

But little things like that happen to you, and it's, you know, it makes you stop and think, 'Oh, gosh!'

You know, 'Am I showing signs?'

You know, it's scary.

It's scary.

Early-onset Alzheimer's is caused by an inherited genetic mutation.

It's in his family, so Jeff knows he has a 50/50 chance that he's next.

But it's that predictability that makes people like Jeff -- and his sister and two cousins -- ideal subjects to try out experimental treatments.

Now, this population is incredibly rare, so this is a worldwide trial run across many different countries and languages to get enough people together to demonstrate whether these drugs will have a benefit.

And so it's not an easy trial.

Washington University Med School neurologist Dr. Randall Bateman is directing what's called the DIAN TU Study.

We believe that this is the era in which we will begin to change the course of Alzheimer's disease with highly effective treatments.

The study is being conducted in centers around the world so that Jeff and other subjects can get their experimental drugs or placebos close to home.

They're also regularly tested for symptoms like memory loss.

And researchers know what causes that -- amyloid beta plaque builds up for many years, until the clumps finally begin to interfere with brain functions.

In Alzheimer's disease, it's really a 30-year process.

And so what you're really talking about is the last seven years is what, clinically, we see as doctors, but the process started 20, 25 years before then.

But it used to be they could they could only know what had happened by examining the patient's brain after death.

But now advanced scanning and imaging technology shows it happening in the living, building up before the symptoms emerge.

Okay, Jeff, you're doing great.

This next one is about six minutes.

Test subjects make annual visits to the few medical centers that have those machines for a series of scans that will be compared to last year's.

The scan of Jeff's brain is gonna take about an hour.

Now, he's not gonna know what they find or what they don't find.

And, frankly, he doesn't want to know.

I don't ask a whole lot of questions, actually.

I used to really try to get involved, you know, in it, and now the more it goes, they're talking over my head.

I turn wrenches, you know... Not my cup of tea, that's...

You can see the changes of amyloid deposition throughout the brain.

These are not images from Jeff's scans, but if he has Alzheimer's and the steady buildup of plaque, this is what it would look like from one yearly scan to the next.

This kind of imaging, this is what you would only find in an autopsy.


And say, 'Oh, look, it was Alzheimer's.'


Now you see it happening.

In real time, in real life.


We can see the changes of Alzheimer's occurring in these patients.

Now, the drugs that we're administering are designed to target this amyloid beta protein.

And if one of those drugs is in fact stopping, preventing, or reversing the damage, they will see it in these scans.

Okay, Jeff, we are all finished.

How are you feeling?

He doesn't know and no one's allowed to tell him if he actually has the genetic mutation or if he's got Alzheimer's or if he's getting a test drug or a placebo.

I don't know a thing.

I don't know a thing.

I don't know if it's helping, I don't know what kind of medicine dosages I'm getting.

You know, I just... I don't know.

And, you know, do you want to know?

You don't want to know.

You want to know you're dying?

There are multiple trials running in parallel right now.

Our trial will have its first readout towards the end of 2016, 2017.

And so that's when we'll have the first information about whether these drugs are hitting their targets, the biomarker measures of Alzheimer's disease in these family members, and which of these drugs may be then more likely to have a benefit in this population.

Several years after that, we may have the first clinical readings of what the cognitive benefit is of the drug in preventing Alzheimer's disease.

But the number-one reason why people do this study, interestingly enough, is not for themselves.

It's not to protect themselves against Alzheimer's disease.

The number-one reason these families do it is because they do it for their other family members.

Like I said, if it doesn't help me, maybe it will help our children and other people's children down the road.