September 29, 2025 • 15 mins
Researchers say they have, for the first time, dramatically slowed the progression of a cruel and devastating neuron condition called Huntington’s disease.
For sufferers, this potentially means getting years of their life back or the lessening of symptoms of a condition that robs them of physical movement and kills their brain cells.
Today, Professor Julie Stout from Monash University’s Turner Institute of Brain and Mental Health, on why this clinical trial, which involved a small number of patients in London, has the medical world so excited.
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S1 (00:00):
From the newsrooms of the Sydney Morning Herald and The Age.
This is the morning edition. I'm Tammy Mills filling in
for Samantha Sellenger Morris. It's Tuesday, September 30th. Researchers say
they have, for the first time, dramatically slowed the progression
of a cruel and devastating neuron condition called Huntington's disease.
(00:23):
For sufferers, this potentially means getting years of their life
back or the lessening of symptoms of a condition that
robs them of physical movement and kills brain cells. Today,
Professor Julie Stout from Monash University's Turner Institute of Brain
and Mental Health on why this clinical trial, which involved
(00:43):
a small number of patients in London, has the medical
world so excited. So, Julie, welcome to the Morning Edition.
S2 (00:55):
Thank you. Thanks for having me.
S1 (00:57):
So first, can you tell us what Huntington's disease is
and how it affects sufferers.
S2 (01:02):
Sure. So Huntington's disease, it's called a neurological disease because
it affects the brain and the nervous system. It is
a genetic disease. And in this case, it's called an
autosomal dominant genetic disease. And what that means is it
runs strongly in families. So how that works is that
any parent who has the gene for Huntington's disease, when
(01:25):
they produce a child, an offspring, that child has a 50%
chance of inheriting that gene. And if they inherit the gene,
they'll eventually get the disease. What the disease does is
it causes changes in the brain, but also throughout the body,
because there's actually nervous system tissue throughout the body. There
(01:45):
are specific parts of the brain that are degenerating earlier
and more severely. And those parts of the brain are
really important parts, because they're kind of connector parts between
a lot of other parts of the brain. So that
means that the effects of Huntington's disease on behavior are
pretty widespread. They affect movement. So people get these kind
of uncontrollable movements. Sometimes it looks like their maybe their
(02:08):
arms are kind of moving around when they don't mean to,
or their legs might be twitching or their they might
have some facial movements. So that's one thing that you see.
The second thing that you see is you see that
they have problems with their thinking and memory. So they
develop some cognitive decline and that progresses across time. And
then the third part is that they develop a mood
(02:29):
disorder like depression or anxiety, um, and other kind of
psychiatric manifestations. And those can really vary quite a lot
from person to person. Sometimes you see sort of inappropriate
behaviors like impulsive behaviors at times that being a bit
out of control. And that doesn't happen to everyone. But
it has happened to some people that they might have
(02:49):
sort of temper outbursts and things like that.
S1 (02:51):
Um, I've read that it's been described as like one
of the most cruelest and devastating diseases. Is that correct?
S2 (02:58):
Well, it is a really, um, cruel disease. I'll tell
you one thing that they say. And they said it
on TV last week. I heard them say it's like
a combination between Parkinson's, Alzheimer's and ALS. Actually, I don't
think that's really true. It's it's really its own different
disease and it has different characteristics. So it it is
(03:18):
a devastating disease. But I'll tell you what I think
is the most devastating thing about it probably is the
fact that it can it usually has onset, um, when
people are sort of in their middle, the middle of
their lives. So it can actually have onset anytime from
childhood to old age. But the most common ages of
onset are usually sort of the 30s and 40s. And
(03:38):
so having a disease that causes cognitive decline, um, and
psychiatric symptoms, and even the movement disorder at that young
age means that people, you know, they usually have their
families around that time or before that time. So they
might have young children, they are working. Maybe they're in
kind of the ascending part of their career where things
are building up for them. Um, and so to be
(04:02):
affected by a disease that that begins to take away
some of your abilities, um, it happens very gradually, by
the way, but it does begin to take away some
of your abilities that, you know, at that younger age,
I think is even more devastating.
S1 (04:16):
Uh, how widespread is it in Australia?
S2 (04:18):
Well, it's interesting that we don't know exactly because we've
never had a prevalence study to look at it across
the entire country. So that's there is an attempt right now,
but from what we can gather from the existing records,
we think that possibly there might be 10,000 people affected.
If you include the people who have the symptoms themselves,
plus the people who maybe are just beginning to gradually
(04:40):
show some changes, plus all the people who have the
gene who don't have any symptoms yet.
S1 (04:45):
Um, and kind of moving into the news of, of
the last week, it's what's happened is what's been described
as a breakthrough that's come out of the UK. So
can you tell us how significant this news is?
S2 (04:57):
Yeah, of course I can. Um, it's a really exciting
time for Huntington's disease. And I think actually it goes
beyond Huntington's for the field, for all the neurodegenerative disorders
in Alzheimer's and Parkinson's and motor neurone disease and Ms.
and all these kind of different neurological disorders. It's called
a gene therapy. So as I mentioned, Huntington's disease is
(05:21):
a genetic disorder and kind of an abnormal form. What
it does is it produces a protein and we call
it the huntingtin protein. It's just given that name. When
you do this gene therapy, what they do is they
actually they operate on both sides of the brain. They
make a burr hole in the skull, and they stick
a needle down into the brain and they inject the drug.
(05:44):
What it does is it tries to block the production
of the protein. And so it just means that there's
less abnormal protein that's being produced, not 100%, but it
just it leads to a cut down amount of that protein.
And so by having less of that protein. What it
means is that there's less of this abnormal interaction between proteins,
(06:06):
and that means that less brain tissue dies.
S3 (06:09):
We have some breaking news to bring you. Huntington's disease
has been successfully treated for the first time. According to
the results.
S4 (06:17):
I've been doing Huntington's disease research and looking after patients
with HD for 20 years. And it's unlike anything we've
ever seen before.
S3 (06:24):
The trial was shown to slow the progress of the
disease by 75%. So with me now is our medical editor,
Fergus Walsh.
S1 (06:32):
So there's a new treatment described to us what the
effects have been.
S2 (06:37):
Well, what you would normally see in a person with
Huntington's disease in one year is now going to take
something like four years. Okay. So that's what they're meaning
by this decline. It's a decline in the decline of function. Right.
It's a lessening of the progression of the disease. So
that means people will progress more slowly. There are some
(07:00):
reports of a person in a wheelchair who's now been
able to get out of the wheelchair and doesn't have
to use it. There's one report of someone who went
back to work after having retired from having Huntington's disease.
I don't know the details of these, but I think
it's safe to say we should watch this space and
see what kind of reports are coming out. So there's
a total of 29 patients that are in this first
(07:21):
initial report that we heard about. And, you know, it's
not very many patients normally in a clinical trial to
get a drug approved, you might have at least hundreds
but sometimes thousands of patients. But you can imagine for
a trial like this where it's a therapy that's delivered
into the brain, it's got to be done in a
much more small scale.
S1 (07:43):
Why is it, then, that such a small group of patients,
of people involved in this trial? Why is it so exciting?
S2 (07:50):
Well, I suppose when you even when you do a
small trial, when you see a dramatic effect, which is
what we've seen here, it still has a lot of impact.
It was a remarkably large effect that was found. So
they said a 75% slowing in the progression of the disease. Now,
once you see something like that, I think everyone feels
an obligation to bring that to the community as rapidly
(08:13):
as possible.
S1 (08:17):
We'll be back in a minute. Any idea of, like,
how long they have been tracking these patients so far
and kind of how long they're going to continue to
track them for, to see, to measure if there's any
wane in that. Yeah. And that effect.
S2 (08:35):
Yeah, sure. People have been observed for at least a
one year follow up after their brain surgery, but some
as long as three years. So that's pretty good. They'll
be continued at least for five years to be monitored
in a very intensive way. And then after a while
they might back down and just do maybe a more like,
(08:55):
maybe less frequent or less detailed monitoring, but they'll probably
be tracked, some of them for the rest of their lives.
So there is a need to see the effect in
more people. There's also a need to see how this
drug continues to affect people, because I don't think we
would see necessarily that people are all of a sudden
going to get worse or have a bad side effect.
(09:17):
I think that looks pretty promising. That really haven't been
any very bad side effects from the drug. 75% is
actually quite a huge, quite a huge change. But when
you have a huge change like that, sometimes there's a
bit of a kind of a placebo effect. So people
can really be so hopeful. They might have gotten some benefit,
(09:38):
but maybe 75% might be a bit of a generous amount.
On the other hand. Besides those clinical symptoms, the thinking
and the movement, they also measured these proteins in the body.
It's hard to have a placebo effect on those, but
it's not impossible. Believe it or not, your body can
still produce placebo effects. So it's possible That the clinical benefits,
(10:02):
they might wane a bit or they might get a
bit smaller over time. We really don't know. But even
if they dropped by half, it would still be a
quite remarkable achievement. So I think we can feel pretty optimistic.
But we we have to always be skeptical and try and,
you know, present the most realistic situation as possible.
S1 (10:22):
Yeah. And so what happens from here? Like how long
will it take for this treatment to become available in
like Australia? Because I'm sure that you've been hearing from
people in the community and families with this gene and
families that are suffering from this disease, that are, I guess,
eagerly awaiting to see when this will be available to them.
S2 (10:43):
Right. Well, this is a kind of a complicated part
of the story, because drug approvals are a country by
country process. So the countries that tend to get drug
approval first are those places where the drug is being trialled.
And so the US might be first or it might
be in Europe somewhere. It's hard to know, but it's
(11:07):
no doubt there'll be a very big push to try
and get that to happen. Now for Australia. We have
to try and figure out what the company that did
this trial, when can we get them to begin to
work with the regulators in Australia? And there's sort of
two stages for that. And the first stage, it's the
TGA or the Therapeutic Goods Administration. They review the existing
(11:30):
data and they determine for the Australian population, do they
believe that this is safe and well tolerated and it
has enough benefit that it should be approved. And they
may decide it's not enough data or they may decide
they'd like to see it. A trial run in Australia.
It's hard to know that they what will happen is
(11:51):
the company will provide the data to the Therapeutic Goods Administration,
who will then evaluate it, and that takes months. Um,
and they'll of course try and expedite it if they
can as well, because of the significance of this finding.
So let's then say for a moment, you know, it
eventually gets approved by the TGA, the Therapeutic Goods Administration
(12:11):
in Australia. The next question is who pays for it?
So it has to then go to the Pharmaceutical Benefits
Advisory Committee for evaluation. They'll look at the kind of
value of the treatment to the Australian people to decide
how much they can pay. And and what's it worth
to the Australian public. You know, they look at it
(12:33):
both in terms of the kind of on humanitarian grounds
but also financial grounds. There is a precedent in Australia
for gene therapies, which are very expensive to be paid
for by the through the Pharmaceutical Benefits Scheme. I don't
know if any have been at the level of cost
that this one is likely to be at, but I
would say it's not out of the question. It'll take
(12:56):
a while at least. I would say a couple a year,
a couple of years to get it through the processes here.
For some people who have Huntington's disease now, this drug
is going to come too late. And that's really heartbreaking.
There might be other people who are either earlier in
the disease or maybe they don't have the symptoms yet.
They just have the gene. And they may be, you know,
(13:16):
can feel a bit more hopeful that they have a
chance that could get to them. There are so many
more questions for us to figure out. Like, it could
be if you're really early, maybe you benefit the most
and maybe you recover something we don't know. Um, so
you have many questions to answer. Still, this one treatment
is not going to be the solution for everyone for
many reasons. So there are other treatments that are also having, um,
(13:39):
really important effects that are also being trialed right now,
some in Australia. And those also have the potential to
make a big difference and to be, you know, approved
in Australia, maybe even sooner. So there's a lot of
a lot there's a lot going on in a lot
of different possibilities about how this could look.
S1 (13:57):
Well, thank you so much, Julie, for your time and
coming on the morning edition today.
S2 (14:02):
You're very welcome. Thanks so much for having me, Tammy.
Have a good day.
S1 (14:14):
Today's episode of The Morning Edition was produced by Julia Karkazis.
Tom McKendrick is our head of audio. To listen to
our episodes as soon as they drop, follow the Morning
Edition on Apple, Spotify, or wherever you listen to your podcasts.
Our newsrooms are powered by subscriptions, so to support independent journalism,
(14:35):
visit The Age or smh.com.au. Subscribe and to stay up
to date, sign up for the Morning Edition newsletter to
receive a summary of the day's most important news in
your inbox every morning. Links are in the show. Notes.
I'm Tammy Mills and this is the morning edition. Thanks
for listening.
From the newsrooms of the Sydney Morning Herald and The Age.
This is the morning edition. I'm Tammy Mills filling in
for Samantha Sellenger Morris. It's Tuesday, September 30th. Researchers say
they have, for the first time, dramatically slowed the progression
of a cruel and devastating neuron condition called Huntington's disease.
(00:23):
For sufferers, this potentially means getting years of their life
back or the lessening of symptoms of a condition that
robs them of physical movement and kills brain cells. Today,
Professor Julie Stout from Monash University's Turner Institute of Brain
and Mental Health on why this clinical trial, which involved
(00:43):
a small number of patients in London, has the medical
world so excited. So, Julie, welcome to the Morning Edition.
S2 (00:55):
Thank you. Thanks for having me.
S1 (00:57):
So first, can you tell us what Huntington's disease is
and how it affects sufferers.
S2 (01:02):
Sure. So Huntington's disease, it's called a neurological disease because
it affects the brain and the nervous system. It is
a genetic disease. And in this case, it's called an
autosomal dominant genetic disease. And what that means is it
runs strongly in families. So how that works is that
any parent who has the gene for Huntington's disease, when
(01:25):
they produce a child, an offspring, that child has a 50%
chance of inheriting that gene. And if they inherit the gene,
they'll eventually get the disease. What the disease does is
it causes changes in the brain, but also throughout the body,
because there's actually nervous system tissue throughout the body. There
(01:45):
are specific parts of the brain that are degenerating earlier
and more severely. And those parts of the brain are
really important parts, because they're kind of connector parts between
a lot of other parts of the brain. So that
means that the effects of Huntington's disease on behavior are
pretty widespread. They affect movement. So people get these kind
of uncontrollable movements. Sometimes it looks like their maybe their
(02:08):
arms are kind of moving around when they don't mean to,
or their legs might be twitching or their they might
have some facial movements. So that's one thing that you see.
The second thing that you see is you see that
they have problems with their thinking and memory. So they
develop some cognitive decline and that progresses across time. And
then the third part is that they develop a mood
(02:29):
disorder like depression or anxiety, um, and other kind of
psychiatric manifestations. And those can really vary quite a lot
from person to person. Sometimes you see sort of inappropriate
behaviors like impulsive behaviors at times that being a bit
out of control. And that doesn't happen to everyone. But
it has happened to some people that they might have
(02:49):
sort of temper outbursts and things like that.
S1 (02:51):
Um, I've read that it's been described as like one
of the most cruelest and devastating diseases. Is that correct?
S2 (02:58):
Well, it is a really, um, cruel disease. I'll tell
you one thing that they say. And they said it
on TV last week. I heard them say it's like
a combination between Parkinson's, Alzheimer's and ALS. Actually, I don't
think that's really true. It's it's really its own different
disease and it has different characteristics. So it it is
(03:18):
a devastating disease. But I'll tell you what I think
is the most devastating thing about it probably is the
fact that it can it usually has onset, um, when
people are sort of in their middle, the middle of
their lives. So it can actually have onset anytime from
childhood to old age. But the most common ages of
onset are usually sort of the 30s and 40s. And
(03:38):
so having a disease that causes cognitive decline, um, and
psychiatric symptoms, and even the movement disorder at that young
age means that people, you know, they usually have their
families around that time or before that time. So they
might have young children, they are working. Maybe they're in
kind of the ascending part of their career where things
are building up for them. Um, and so to be
(04:02):
affected by a disease that that begins to take away
some of your abilities, um, it happens very gradually, by
the way, but it does begin to take away some
of your abilities that, you know, at that younger age,
I think is even more devastating.
S1 (04:16):
Uh, how widespread is it in Australia?
S2 (04:18):
Well, it's interesting that we don't know exactly because we've
never had a prevalence study to look at it across
the entire country. So that's there is an attempt right now,
but from what we can gather from the existing records,
we think that possibly there might be 10,000 people affected.
If you include the people who have the symptoms themselves,
plus the people who maybe are just beginning to gradually
(04:40):
show some changes, plus all the people who have the
gene who don't have any symptoms yet.
S1 (04:45):
Um, and kind of moving into the news of, of
the last week, it's what's happened is what's been described
as a breakthrough that's come out of the UK. So
can you tell us how significant this news is?
S2 (04:57):
Yeah, of course I can. Um, it's a really exciting
time for Huntington's disease. And I think actually it goes
beyond Huntington's for the field, for all the neurodegenerative disorders
in Alzheimer's and Parkinson's and motor neurone disease and Ms.
and all these kind of different neurological disorders. It's called
a gene therapy. So as I mentioned, Huntington's disease is
(05:21):
a genetic disorder and kind of an abnormal form. What
it does is it produces a protein and we call
it the huntingtin protein. It's just given that name. When
you do this gene therapy, what they do is they
actually they operate on both sides of the brain. They
make a burr hole in the skull, and they stick
a needle down into the brain and they inject the drug.
(05:44):
What it does is it tries to block the production
of the protein. And so it just means that there's
less abnormal protein that's being produced, not 100%, but it
just it leads to a cut down amount of that protein.
And so by having less of that protein. What it
means is that there's less of this abnormal interaction between proteins,
(06:06):
and that means that less brain tissue dies.
S3 (06:09):
We have some breaking news to bring you. Huntington's disease
has been successfully treated for the first time. According to
the results.
S4 (06:17):
I've been doing Huntington's disease research and looking after patients
with HD for 20 years. And it's unlike anything we've
ever seen before.
S3 (06:24):
The trial was shown to slow the progress of the
disease by 75%. So with me now is our medical editor,
Fergus Walsh.
S1 (06:32):
So there's a new treatment described to us what the
effects have been.
S2 (06:37):
Well, what you would normally see in a person with
Huntington's disease in one year is now going to take
something like four years. Okay. So that's what they're meaning
by this decline. It's a decline in the decline of function. Right.
It's a lessening of the progression of the disease. So
that means people will progress more slowly. There are some
(07:00):
reports of a person in a wheelchair who's now been
able to get out of the wheelchair and doesn't have
to use it. There's one report of someone who went
back to work after having retired from having Huntington's disease.
I don't know the details of these, but I think
it's safe to say we should watch this space and
see what kind of reports are coming out. So there's
a total of 29 patients that are in this first
(07:21):
initial report that we heard about. And, you know, it's
not very many patients normally in a clinical trial to
get a drug approved, you might have at least hundreds
but sometimes thousands of patients. But you can imagine for
a trial like this where it's a therapy that's delivered
into the brain, it's got to be done in a
much more small scale.
S1 (07:43):
Why is it, then, that such a small group of patients,
of people involved in this trial? Why is it so exciting?
S2 (07:50):
Well, I suppose when you even when you do a
small trial, when you see a dramatic effect, which is
what we've seen here, it still has a lot of impact.
It was a remarkably large effect that was found. So
they said a 75% slowing in the progression of the disease. Now,
once you see something like that, I think everyone feels
an obligation to bring that to the community as rapidly
(08:13):
as possible.
S1 (08:17):
We'll be back in a minute. Any idea of, like,
how long they have been tracking these patients so far
and kind of how long they're going to continue to
track them for, to see, to measure if there's any
wane in that. Yeah. And that effect.
S2 (08:35):
Yeah, sure. People have been observed for at least a
one year follow up after their brain surgery, but some
as long as three years. So that's pretty good. They'll
be continued at least for five years to be monitored
in a very intensive way. And then after a while
they might back down and just do maybe a more like,
(08:55):
maybe less frequent or less detailed monitoring, but they'll probably
be tracked, some of them for the rest of their lives.
So there is a need to see the effect in
more people. There's also a need to see how this
drug continues to affect people, because I don't think we
would see necessarily that people are all of a sudden
going to get worse or have a bad side effect.
(09:17):
I think that looks pretty promising. That really haven't been
any very bad side effects from the drug. 75% is
actually quite a huge, quite a huge change. But when
you have a huge change like that, sometimes there's a
bit of a kind of a placebo effect. So people
can really be so hopeful. They might have gotten some benefit,
(09:38):
but maybe 75% might be a bit of a generous amount.
On the other hand. Besides those clinical symptoms, the thinking
and the movement, they also measured these proteins in the body.
It's hard to have a placebo effect on those, but
it's not impossible. Believe it or not, your body can
still produce placebo effects. So it's possible That the clinical benefits,
(10:02):
they might wane a bit or they might get a
bit smaller over time. We really don't know. But even
if they dropped by half, it would still be a
quite remarkable achievement. So I think we can feel pretty optimistic.
But we we have to always be skeptical and try and,
you know, present the most realistic situation as possible.
S1 (10:22):
Yeah. And so what happens from here? Like how long
will it take for this treatment to become available in
like Australia? Because I'm sure that you've been hearing from
people in the community and families with this gene and
families that are suffering from this disease, that are, I guess,
eagerly awaiting to see when this will be available to them.
S2 (10:43):
Right. Well, this is a kind of a complicated part
of the story, because drug approvals are a country by
country process. So the countries that tend to get drug
approval first are those places where the drug is being trialled.
And so the US might be first or it might
be in Europe somewhere. It's hard to know, but it's
(11:07):
no doubt there'll be a very big push to try
and get that to happen. Now for Australia. We have
to try and figure out what the company that did
this trial, when can we get them to begin to
work with the regulators in Australia? And there's sort of
two stages for that. And the first stage, it's the
TGA or the Therapeutic Goods Administration. They review the existing
(11:30):
data and they determine for the Australian population, do they
believe that this is safe and well tolerated and it
has enough benefit that it should be approved. And they
may decide it's not enough data or they may decide
they'd like to see it. A trial run in Australia.
It's hard to know that they what will happen is
(11:51):
the company will provide the data to the Therapeutic Goods Administration,
who will then evaluate it, and that takes months. Um,
and they'll of course try and expedite it if they
can as well, because of the significance of this finding.
So let's then say for a moment, you know, it
eventually gets approved by the TGA, the Therapeutic Goods Administration
(12:11):
in Australia. The next question is who pays for it?
So it has to then go to the Pharmaceutical Benefits
Advisory Committee for evaluation. They'll look at the kind of
value of the treatment to the Australian people to decide
how much they can pay. And and what's it worth
to the Australian public. You know, they look at it
(12:33):
both in terms of the kind of on humanitarian grounds
but also financial grounds. There is a precedent in Australia
for gene therapies, which are very expensive to be paid
for by the through the Pharmaceutical Benefits Scheme. I don't
know if any have been at the level of cost
that this one is likely to be at, but I
would say it's not out of the question. It'll take
(12:56):
a while at least. I would say a couple a year,
a couple of years to get it through the processes here.
For some people who have Huntington's disease now, this drug
is going to come too late. And that's really heartbreaking.
There might be other people who are either earlier in
the disease or maybe they don't have the symptoms yet.
They just have the gene. And they may be, you know,
(13:16):
can feel a bit more hopeful that they have a
chance that could get to them. There are so many
more questions for us to figure out. Like, it could
be if you're really early, maybe you benefit the most
and maybe you recover something we don't know. Um, so
you have many questions to answer. Still, this one treatment
is not going to be the solution for everyone for
many reasons. So there are other treatments that are also having, um,
(13:39):
really important effects that are also being trialed right now,
some in Australia. And those also have the potential to
make a big difference and to be, you know, approved
in Australia, maybe even sooner. So there's a lot of
a lot there's a lot going on in a lot
of different possibilities about how this could look.
S1 (13:57):
Well, thank you so much, Julie, for your time and
coming on the morning edition today.
S2 (14:02):
You're very welcome. Thanks so much for having me, Tammy.
Have a good day.
S1 (14:14):
Today's episode of The Morning Edition was produced by Julia Karkazis.
Tom McKendrick is our head of audio. To listen to
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(14:35):
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I'm Tammy Mills and this is the morning edition. Thanks
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