Next up.
I think we have our learn dr.
Lauren Byrne
and do dr.
Rebecca.
Mason,
will talk about work that they're doing
combating juvenile,
onset.
Hunting is these sort of something that htu
is also involved with so Lauren and Rebecca.
You want to take it with everybody.
I should start sharing my screen,
but What I do that.
I want to say a huge.
Thank you to Cheryl and Meghan.
We have the privilege of working with Cheryl in or family Advisory
Group for this initiative that we're about to tell you,
but I can honestly,
say Meghan is still writing a
lot to the HD community and Cheryl,
so it's amazing to have her present.
Can I check?
Everyone can see my screen?
So I'm dr.
Lauren Byrne.
I am part of heo is a board member.
I'm a researcher.
It's a researcher at the University College,
London.
I'm also a HD family member and
we have been working very hard on a new Initiative.
For juvenile onset,
Huntington c chord join HD and
I'm joined with our Wonderful
study coordinator.
Dr.
Rebecca Mason,
we will join me and take
over halfway through talk.
So let's get going.
So case you have always
been I've been supporting young people back by Huntington's disease
or 10 years.
9 months.
I can use in
your anniversary and
it's Great.
Passionate thing to be able to support educate and Empower young.
People enjoy the occasional,
no different,
from any of,
of anything else.
We do.
We all know.
I've heard of Huntington's chorea and idea.
There's this movement disorder Korea being this
jerky,
dance,
like movements.
And you heard from,
from Cheryl story of I told people to get mistaken,
you've been described as drunk.
But we know now that it's Huntington's disease is there's so much more
to it.
But the behavioral and cognitive dysfunction is Cheryl mentioned,
Megan struggling with homework
and University.
So they hunted Institute.
I wanted to talk about the discovery of the Hub Vengeance to
Gene itself as it highlights.
An important thing about the UHD community.
And is this very collaborative aspect of that
about it?
Back in 1993,
led by Nancy Wexler.
There was a huge team of efforts at help
discover the Gene.
And this was 58.
Scientists across the globe and over 12,000
Army,
members to discover this single Gene that causes something
to do and why this
is so important.
It's why we call her disease,
the most curable incurable brain disease
because we know know what causes everything is pointing
him disease.
It's more than you can say
than a lot of other agencies is
like Alzheimer's and Parkinson's,
every case of Huntington's disease is caused by the
expansion of see two peaks in the Huntington Gene
and just remind you Aunt in gene
is the recipe.
That helps the tells the body how
to build the Huntington coaching and,
you know,
Know about the petitioner causes something to Susie's
into these expanded that it repeats
of CAG letters.
So over 36 is pauses this new
tinted huntingtin protein and
I'm sure a lot of,
you know,
that there's a relationship with the length of these
repeats to hire early and get the disease.
So you can see in this graph that person
more common due to agree.
It's of the causes of adult onset.
And in these days is in this 4050 range
and down here.
You can see the range within the below
the age of 21.
So which which
as you know,
I know is juvenile onset,
Huntington's disease or that.
Is,
is the definition.
It can see even just from this figure that how sparse
the points are and that's because Extremely rare.
It's of like 5% of Huntington's disease cases.
It's also imprisoned quite differently from what disease
you can see.
This is a person with juvenile onset and enhance
and how they have a lot more slowness of movement and
stiffness,
but you hear a bit more about symptoms and managing
those,
I think in Market stop next,
but overall,
there's no dogs to slow down.
Eh do.
Do you actually die?
Nor?
I don't want it.
It's D.
And the severity of the disease means.
It's really hard to study
and to whereas with
with that or onset had,
you can see since the genes being discovered itself.
There have been a number of studies
that have been looking at people.
They Carried a hunting injecting a film that has
allowed us to know a lot about what happened.
Not on two husbands,
but this is has it really been the case for Jeremy HD and
this lack of knowledge.
Contributes to the fact that it's,
it's very hard to diagnose. 153 00:06:10,800 --> 00:06:10,700 No.
And take years
for some children to get diagnosis.
Because as Cheryl mentioned,
this doctors want to be really sure that
they additional symptoms that they're seeing
are actually Huntington disease,
rather than say,
a A childhood disorder.
And this this mean children might not
be getting diagnosed quickly enough and
then there's a lot less expertise in there
as well,
for quite a treat.
And what is the best way to treat them?
So there's no drugs and the dogs will correctly.
No,
trials,
that are including pediatric patients.
And this all leads to all these families being
so isolated.
I know what,
it's like to feel isolated,
even with at all.
Teddy HD and the lack of knowledge and awareness in your
day-to-day life and how that can impact you,
but this is even worse for those with
with Jerry HD.
So this is where we have
come in with 20 HD based
on this idea that patient Registries have
been known to really help particularly in the varices field.
Help get numbers and knowledge or pay for these
hard-to-reach populations and help improve
our knowledge of the disease and in Creek,
improving diagnosis,
and clinical care.
And also creating support.
Economies around the world.
So I'm going to hand over to the backpack who is going to tell you
specifically on our registry called
Drawing extreme.
And Dylan,
so join HD is a global patient registry.
But HD audio setup for families impacted by the juvenile
onset,
Huntington's disease,
and the angel join HDR to build a community
of families impacted by Joe HD from around the world
and to increase knowledge of the disease to facilitate
future research and to identify unmet needs.
So with Jerry HD being so rare.
We hope that creating this global registry.
Is going to allow us to recruit large enough numbers to collect
meaningful information about the disease and to assist
in the burning of future research and D drug trials.
So join HD is a very collaborative project
and there's input from many experts in the field of jhd.
So dr.
Laura been who's just speaking is the chief investigator of join
HD and that means that she's got overall responsibility
for the registry and I'm the registry
coordinator,
which makes me responsible for the day-to-day management
of the project.
So HDO,
we also have an inductor bunny,
who spoke earlier and has been very involved
through her role as co-chair of the mhdo
research committee.
So as well as the team at HD yo and join HD
has a scientific oversight committee.
You can see on the slide here and and we meet
regularly to provide expert advice and guidance
on the scientific aspects of the registry,
the members bring extensive experience in E
JH D,
pediatric,
neurology,
and Pediatric bioethics.
And then in addition to this,
we have a really fantastic family Advisory Group,
who provide advice to US based on their invaluable lived
experience of jhd.
Next slide.
Please Lauren.
Thank you.
So,
and how does join HD work?
So join HD is a remote registry.
So it is carried out online.
This allows participants to take place from their own home,
which removes the barrier of needing to live close to a study site.
It's open to both people with Joe HD their
caregivers and also people who have previously cared
for a loved one would do each day.
Registration will be carried out in three stages with increasing
information being collected at each stage.
So at pre-enrollment potential participants register
their interest in taking part and provide contact information,
which enables us to get in touch with them.
Then at stage one demographics are collected along
with information.
About the links participants have with the HD Community.
Then it stage 2.
We're planning to collect information about patients
and caregivers experience.
So it's of Jo HD and information about medical history.
And then the last stage stage 3 is going to bring corporate
a clinician LED interview and information about family
history of the disease free enrollment
opened in 2021,
and we're very excited to have launched stage one
and just over the last month.
So the process of the participant taking part
in Dynasty is shown on this slide.
So potential,
participants register,
their interest by giving us their contact details,
which is done through Microsoft forms.
And then once we receive these details,
we can provide further information on the project by email
and if the potential participant is still interested in taking
part,
then we set up a screening call.
So that will be with the potential participant and myself.
So in this call,
I'll explain the project in more details,
confirm eligibility and answer any questions that
participants will have Following
this call Em,
the participant would then receive the information that they need to self-enroll
on join HD website and complete their stage,
one questionnaires.
And then when further stages of join HD become available,
so stage 2,
and stage 3,
or any other research opportunities for ghd Co-Op,
will would get back in touch with participants to see if they're interested
in taking part in these opportunities.
So as I said and the pre-registration is done,
using Microsoft forms,
which is shown in the middle of this slide here.
The form can be accessed through lots of different routes.
So the on the hdgo website,
we've got a page about join HD.
So the link is on there and we have
different promotional materials that contain this QR code
so that can be scanned.
We've got a booth here and this weekend's that contains links
to get onto the free registration form.
And then direct links in places like our email signatures.
So M.
As I said,
a little earlier with the Rarity of jhd,
we really hope that the global nature of this project will
allow us to recruit large enough numbers to really make a difference.
And therefore,
it's really important for us to enroll as many eligible families,
as we can to make the registry in the project a success.
So in order to do this,
we planning to utilize existing HDO contacts
as well as working closely with specialist HD Clinic.
Santa's HD Charities,
associations and networks,
and we're also going to inform people of the registry
through websites and social media support groups.
And hopefully,
by Word of Mouth.
We really hope that people who do take part will
tell anyone that they know who might be eligible about it.
And through those different Avenues.
We want to make as many people aware of the project as we can.
So,
since pre-registration opened last year and
we've had pre-registrations from 37 families
in 10 different countries around the world,
which is an excellent start with delighted with that.
And we're going to be working hard to build on this foundation and
get more numbers from here.
And then since stage one open last month,
so we've got 12 participants currently enrolled and
this is an ongoing process with more participants being enrolled
at each week.
So of those currently taking part,
you can see on this slide.
We've got quite an even split of patients,
caregivers and previous caregivers and
with enrolled participants from the United States,
Scotland and Ukraine so far.
The gender split of patients has been quite evenly,
balanced so far and and caregivers has
been predominantly female,
but these are very early figures and much like to give a taste of
where we're at at the moment.
Okay,
so and that's where we are up to and
we really encourage you to take part in the project
if you are eligible or if you know any families
and who could be or different different ways of getting the word out
there with really appreciate if you could do that
or let us know ideas.
Yeah,
a lot of this is about getting information out to as many
people as we can.
If anyone has any questions,
I welcome them to email me and my emails were Becker at HQ.
Dog.
I'll pass it back over to Lauren.
And so I'm very bad at a time in science.
Transitions for you reckon.
Just last week like to thank everybody protecting your family
by Drew Griffin.
The time to pull them tight committee and our sponsors
to your are making this possible.
We are and particularly families
are doing HD them to do this
for and obviously your staff
and volunteers special.
Thanks to Pat mark.
Martin who is ready and instrumental
in getting this off,
the grind and came up with the
original idea for this and for
anybody,
if the professional side of things you're seeing patients,
please do get in touch with us.
If you want any materials to share and
we can buy those and
we will take any questions.
All right.
Thank you for the wonderful talk.
No,
it just says dr.
Mason is quite knowledgeable,
which I definitely agree with.
Yeah,
there was a question in the chat asking
for the registry site,
but I think Healy us answer that as well.
So I noticed there was a quite a bit of spread in terms
of countries.
Are there more people reaching out since you last checked?
What's a global scope?
So and in terms of the pre-registration,
so we've got people from and the US and
Brazil,
Scotland, 401 00:17:00,700 --> 00:17:00,699 England,
France,
the Netherlands,
Ukraine India,
Pakistan and Russia.
So they're they're all the ones people who have been in touch with
us so far to express their interest and a lot of the work
we're going to be doing over the next.
Few months is targeting
the different countries through their local HD associations
and the are trying to get into as many He's
as we come.
We really want this to be a global project and I think
for it to make a big difference.
That's that's what we need to do.
So that is our goal.
Most importantly,
probably comment that we are focusing
on English first.
Some of its going to be a bias towards English countries,
but we have full buns to translate
this to at the very least,
Spanish and Portuguese and
work with other communities in the area.
In touch with dr.
EH as well to go into South America and I'm really
get help from from that part of the world.
But yeah,
I think we're seeing the most of the signups have been coming
from the US and UK,
which makes sense because that's where we've been the most active.
I think,
on one social not.
So we're really hoping we can literally
get this kind of into all the more accessible
to other countries.
Yeah,
so any plans to translate the registry or are
you going to lean on more,
the country?
Associations do that?
So we will,
but it will be an attitude kind of process because resources
basically,
so it's just,
I think for stage 1,
it will be pretty easy to do because it's not a lot
to translate,
but the thing is,
we need help with translator to do
the screen and called if someone struggles with in
there,
so it's just some Some practical things that we needed
to work life,
but we are fully fully
intend to do as many languages as we come to chat.
But I don't think there's any of the question.
There's an offer to help with translation to do Spanish.
So maybe please get in touch with us.
Yeah.
I think Rebecca's evil is in the chapel ready
to reach out to her.
But thank you.
Thank you again.
It's a great initiative.
I think it's positive as well.
All ght is pretty overlooked.
Yeah,
I was at the SGI Therapeutics conference
last week and presented it joining today and it was great to see
how much of the professional Community as well get
behind it.
So,
we're hoping to have more interactions with them or
if that will help with all their equipment will lights.
Nope.
Sounds good.
All right.
Thank you.
Dr.
Mason.
And dr.
Byrne for who are getting over you
for joining us today.