Table of contents
What is Huntington’s disease?
Symptoms and Treatment:
– Presence and treatment
– Benefits of exercise
– How to use music as therapy
Huntingtin lowering: developing treatment
Huntingtin lowering: Where are we now?
Wave Life Sciences: A unique approach
Uniqure: First gene therapy trial
Roche: First huntingtin lowering trial
TrialFinder: Find Huntington trials in Europe
How research is carried out
Enroll-HD and taking part in research
New variant of Juvenile Huntington’s disease
EHDN: World’s largest Huntington conference
CHDI: Latest research
What is Huntington’s Disease?
Huntington’s Disease (HD) is a genetic disease, which means it can be passed down through families.
In 2016 we met Tove and Angela. They’re both diagnosed with Huntington’s. Our board member, Svein Olaf Olsen, sat down to talk about the disease.
Presence and Treatment of Psychiatric Symptoms
What are the most common psychiatric symptoms in people with Huntington’s disease? And what can you do about them? In this 14 minute presentation by Karen E Anderson from Georgetown University, you can learn more about psychiatric symptoms – with apathy in particular.
(This talk is especially targeted towards professionals but it can be useful to family members as well)
Treating the symptoms
Prof. Dr. med Jean-Marc Burgunder works in Switzerland. Among many things, Jean-Marc conduct research and work with genetic counseling.
There is currently no cure and no treatment that slows or stops Huntington’s disease progression. But there are treatments that may temporarily improve symptoms – for instance physiotherapy and exercise.
The Benefits of Exercise
Research on physical activity has shown several benefits for people with Huntington’s disease: improved quality of life and confidence, improved balance, ability to walk further and faster, prevention of stress and reduction in symptoms of depression and anxiety.
Therefore, the European Huntington’s Disease Network (EHDN) Physiotherapy Working Group have developed a resource. We call it Active Huntingtons!
You can find simple tips and activities at our Active Huntingtons resource.
How to use Music as Therapy
For Music Therapist Sunniva Ulstein Kayser, music is an important channel for communication. It offers a way to see more of the person and it establish an equal platform for interaction.
Want to learn more about how to use music as therapy? We will run a music therapy-workshop during our conference in Bucharest 4.-6. October 2019. Join the event for more information.
Where are we now?
We have talked with different people to get an update on what is currently happening with Huntington’s disease treatment.
At the moment six pharmaceutical companies are working on developing or testing Huntingtin lowering drugs. Two of them are PTC Therapeutics and uniQure. Hear more about their approaches in the video!
Read more at HDBuzz:
Wave Life Sciences:
A unique approach
We met Wave Life Sciences in the spring of 2019 to talk about their new treatment known as ‘Precision medicine’. The drug only targets the disease-causing protein and leaves the healthy protein alone – a completely unique approach. Read more.
The results of
Wave’s PRECISION HD2
Just before the new year, Wave Life Sciences announced that the drug in their huntingtin lowering trial, PRECISION-HD2, had successfully lowered the concentration of mutant huntingtin protein, while healthy huntingtin was left unchanged. Read more.
First gene therapy trial in Huntington’s Disease
uniQure is currently developing a gene therapy treatment known as AMT-130. In 2019, the US Food and Drug Administration (FDA) gave permission to start human trials in the United States. It will be the first gene therapy trial ever in Huntington’s disease.
The trial is a Phase 1/2 trial, which means that it will mainly study the drug’s safety and efficacy in a small number of people.
Astri Arnesen, President of The European Huntington Association, travelled to uniQure in September to talk about the trial and gene therapy. Read more.
Results of the first Huntingtin Lowering Drug Trial
Listen to Sarah Tabrizi’s talk at the EHDN Plenary Meeting.
In this lecture, Trabrizi walk us through Huntingtin Lowering and the results of the first Huntingtin Lowering drug trial IONIS-HTTRx – now known as RG6042 – which looks very promising!
What was great about it?
1) It was the first Huntingtin lowering trial in humans; 2) The results showed that the drug was safe and well-tolerated; 3) It showed that a drug – for the very first time – lowered the level of the disease-causing Huntingtin protein in humans.
When the groundbreaking results of the first Huntingtin lowering trial was announced, the European Huntington Association travelled to Basel. Here, Astri Arnesen and Svein Olaf Olsen met Roche Pharmaceuticals. Roche is currently conducting a Huntingtin lowering trial with the drug RG6042, previously known as IONIS-HTTRx.
What is Huntingtin Lowering?
Prof. Sarah Tabrizi managed the Huntingtin Lowering trial, IONIS-HTTRx, that showed promising results in 2017. A few years ago we sat down and talked with her about Huntingtin lowering. At that time the IONIS-HTTRx trial in humans was halfway through and the groundbreaking results was not yet known.
Here is a interview with Sarah Tabrizi, first published in Spring 2016 issue of Enroll!
Learn more about
ongoing Huntington trials!
In December, we launched the first Huntington’s disease (HD) Trial Finder in Europe! It’s a platform specifically tailored for the Huntington community – family members, healthcare workers and researchers.
At HD Trial Finder you can learn more about ongoing trials, where they are taking place, what is being studied and whether it’s possible to enroll.
Go to: www.HDTrialFinder.net
What is… Huntington research?
How is research conducted? And when researchers talk about a “Phase I clinical trial” – what are they talking about?
Research is often carried out in four steps: 1) Discovery; 2) Pre-clinical phase; 3) Clinical trial and 4) Approval. A clinal trial is a trial conducted with humans. If the pre-clinical trial (study with animals) shows that the drug is safe, another safety testing is done with people. Following safety testing, the efficacy of the drug gets tested. This is done in three phases: Phase I, Phase II and Phase III. Learn more.
What is… Enroll-HD?
Enroll-HD is a worldwide observational study for Huntington’s disease families. It monitors how the disease appears and changes over time in different people. It is in other words a prospective observational study, meaning it tracks people over time, rather than asking them to recall how their symptoms have changed.
It is also an important platform for other studies, where researchers can use the data collected by Enroll-HD. Learn more.
Taking part in research
During our conference in Sofia we sat down and talked with Dr. Ralf Reilmann. Ralf is neurologist and the founder of George Huntington Institute in Münster. He is involved in many Huntington trials in Europe.
Hear Ralf talk about the importance of participating in research and Enroll-HD.
Hope for the future
Is there a reason to have hope? According to Prof. Bernhard Landwehrmeyer the answer is: Yes.
Bernhard is a professor of neurology at Ulm University. He was instrumental in founding EHDN in 2004 and has served as principal investigator in several Huntington’s disease trials. Bernhard is the principal investigator of the Enroll-HD platform, a longitudinal observational study on Huntington’s disease.
New variant of Juvenile Huntington’s Disease discovered
The findings indicate that JHD should be separated into two distinct categories, which in turn may be treated differently. Children with a long mutation length shows a faster rate of disease progression compared to adults and children with a shorter length.
– Our study identifies the most aggressive juvenile-pediatric variant that affects children, Dr. Ferdinando Squitieri states.
This important finding may open the door to new therapeutic strategies for ‘attacking’ this rare variant of Huntington’s Disease.
EHDN Plenary Meeting
World’s largest Huntington conference
Every second year in September EHDN hosts one of the world’s largest conferences dedicated solely to Huntington’s disease. The 2018 EHDN plenary meeting took place September 14th – 16th in the Austria Center Vienna. Here’s a video from the inspiring meeting!
*The European Huntington’s Disease Network (EHDN) is a non-profit research network committed to advance research, clinical trials and improve clinical care in Huntington’s Disease
Postcard from Palm Springs
CHDI Foundation is a science management organization devoted to Huntington’s disease. Their mission is to develop drugs that will slow the progression of the disease.
Every year the foundation holds a conference, where the latest Huntington research news is presented.
Press the ‘CC’ button for subtitles
Here is the postcard from the Therapeutics Conferences at Malta and Palm Springs. Get updated on the latest trials, HD-COPE and HDYO.
Press the ‘CC’ button for subtitles
In this video ‘Postcard from Palm Springs 2016’, HD family advocate and former NBC reporter Charles Sabine presents highlights from CHDI’s 11th Annual Disease Therapeautics Conference, a Forum for Drug Discovery and Development which ran from February 22nd to 25th 2016 in Palm Springs California. The message is overwhelmingly positive; a ‘new age of hope is dawning’.
Here you can find the video subtitled in Greek, Polish, Russian, Italian, French, Arabic, German, Spanish, Romanian, Finnish and Dutch.