Trials & Research

Table of Contents

WHAT IS
HUNTINGTON'S DISEASE?

The 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. 

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)

Apathy

Apathy is one of the most prevalent symptoms in Huntington’s disease, occurring in about 70% of people with symptoms (late stage Huntington’s). 

Carla Collazo, PhD, has been studying apathy as part of DOMINO-HD, a study aiming to investigate the relationship between genetic and lifestyle factors and disease progression.

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. 

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 has developed a resource. Find simple tips and tricks at Active Huntingtons!

Music as Therapy

For Music Therapist Sunniva Ulstein Kayser, music is an important channel for communication. For many years, she has been using music at the Huntington centre at NKS Olaviken in Norway. 

According to Kayser, music offers a way to see more of the person and it establish an equal platform for interaction. Learn more

HUNTINGTIN LOWERING

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. 

More Subtitles:

Trial Results

Just before the new year, in 2019, 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.

UniQure:
Gene Therapy

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 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 2019 to talk about the trial and gene therapy. Read more.

Roche

First Results

In this talk, Prof. Trabrizi walk us through huntingtin lowering and the results of IONIS-HTTRx – now known as Tominersen.

What was great about it?

  • It was the first Huntingtin lowering trial in humans;
  • The results showed that the drug was safe and well-tolerated;
  • It showed that a drug – for the very first time – lowered the level of the disease-causing Huntingtin protein in humans.
What's Next?

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 (now known as Tominersen and 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! 

HUNTINGTON RESEARCH

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

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.

Hope for the Future

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.

New Variant of
Juvenile HD

The findings indicate that Juvenile HD 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. Read more here. 

RESEARCH CONFERENCES

EHDN Plenary Meeting

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

CHDI: Palm Springs

2019. 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 organise a conference where the latest Huntington research news is presented. 

Press the ‘CC’ button for subtitles

2018.

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

2016.

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.