UCL neuroscientist John Hardy hailed “the biggest breakthrough in neurodegenerative disease in the past 50 years” in December.

Researchers had successfully used an experimental drug, injected into spinal fluid, to safely lower levels of toxic proteins in the nervous system caused by the disease.

In Huntington’s terms, it was the biggest story since the 1993 discovery of the gene which triggers the disease.

The mutant ‘Huntingtin’ disease gene which causes Huntington’s contains instructions for cells to make a toxic protein.

This code is copied by a messenger molecule and dispatched to the cell’s protein-making machinery.

Researchers last year found that a drug called Ionis-HTTRx intercepts the messenger molecule and destroys it, effectively silencing the effects of the mutant gene.

While the breakthrough has clearly energised people on the front line of Huntington’s care, its translation into a widely-available treatment could take years.

In the meantime, work continues to increase awareness of the disease and improve its management and diagnosis.

Here Ruth Abuzaid (pictured), head of service development at the Huntington’s Disease Association, provides an update on
the condition.

NRT: Was last year’s discovery really the game-changer it was billed as?
RA: Since the gene for Huntington’s disease was discovered in 1993 there have been many trials looking at what we can do to slow down the progression of this disease. Until now, however, nothing has been found that can do that.
The big breakthrough last year was a pharmaceutical trial of a Huntingtin-lowering drug. It has now been trialled in people in the early stages of the disease and it has been shown to be safe and to lower the levels of the mutant huntingtin that leads to Huntington’s. So yes, it is really exciting news for our community because it is the rst step on the pathway to something that could slow down the disease.

How long until we have a treatment on the market and accessible to all?
Things are certainly moving in the right direction. The pharmaceutical firm Roche has licensed the drug and will be responsible for its ongoing development. Obviously for a company to invest in something like this is really exciting. We know the drug lowers the amount of mutant Huntington which causes the symptoms. What we don’t yet know is what effect it will actually have on
the symptoms themselves.
It could be another seven or eight years until we can truly conclude whether this has been a therapeutic success.

How many people are affected by Huntington’s currently?
It’s really difficult to get accurate numbers because people may live with the disease for a long time without presenting to a medical professional. Partly that is because quite a lot of people are in denial of the disease. In fact, the changes that Huntington’s influences on the brain can actually lead this denial.

We estimate that around 12.3 per 100,000 people in the UK have Huntington’s which amounts to around 8,000 people. Recently we’ve seen an increase in people being diagnosed with the condition.

Firstly, this is because people are living longer – so we are picking up people now who don’t start to show symptoms until their eighties, for example. 
Usually the disease starts between the ages of 30 and 50, but sometimes its younger and sometimes older.
Secondly, we’re getting better at diagnosis.
In the past there was quite a lot of misdiagnosis.

Do we know why the disease is passed on through generations?
It’s through what we call a genetic stutter. The ‘CAG’ part of the standard genetic code is repeated. If the number of repeats reaches a certain level, the disease is extended to that person.

But there are also new mutations of the disease?
When mutations seemingly come out of the blue it is normally because people don’t know their family history. Perhaps someone was adopted or their father isn’t who they thought they were. Also, their parents might have been wrongly diagnosed with Parkinson’s or died before the disease symptoms arose.

It could also be that the parent had a fairly long CAG repeat that hadn’t quite reached the Huntington’s threshold. A slight increase in the next generation could put that person at risk of the disease.

Until the recent promising research turns into treatments, what is the outlook for people with Huntington’s?
Life expectancy once people start showing symptoms is quoted as 15 to 20 years, but it
is a very slowly progressive disease. There
is medication which can help to manage
the symptoms, and make a big difference to quality-of-life. If patients are able to tap into the correct teams and the right resources – and have a good care package around them – that can make a huge difference. So too does having carers who are educated in the disease and understand how to adapt to the patient’s behaviour to make their life easier.

How does the disease affect people’s quality of life?

Everyone with Huntington’s is likely to
see some change to their physical ability, emotional well being and behaviour. The classic symptom of Huntington’s is large involuntary movements, but some patients might actually have very little movement. For most people, their pathway through the disease will be one where they ultimately can’t walk, talk or swallow, and they need full- time nursing care.

On the behavioural and emotional side, it can vary greatly but there are some common themes such as cognitive ability slowing down and finding it harder to make decisions. Others will have extreme mental health issues.

Beyond the UCL trial, are there any other emerging drug treatments?
Currently Tetrabenazine is the only medication approved in the UK for Huntington’s disease specifically.
Other than that, there are the common treatments for associated problems such as depression and anxiety.

Are more people becoming aware of the symptoms or risk factors of the disease?
We are seeing a generation coming through which behaves in a different way, interacting with the world through social media and keen to get rid of the stigma of the disease.

There is a stigma to Huntington’s because it has behavioural and mental health aspects and there might be psychiatric implications. So, in the past, people have hidden away. Younger generations are saying “hang on, we want to make a difference and be open about Huntington’s”.

Because of this, more people are going to medical professionals earlier.

Has the recent research breakthrough also helped to spread awareness of the disease?
Because there is now a potential disease- modifying treatment, we have seen a sudden increase in people contacting us and going to genetic counsellors.

If your parents have the disease, then you have about a 50-50 chance of getting it and you can take a predictive test at age 18 and above.

To date, many people have lived with the Huntington’s risk without getting tested. For many people, there was a sense of “what difference would that make in my life? There is nothing to stop me getting this, so it’s best if I don’t know”.

But now we are seeing a surge of people saying “if this disease modifying therapy is coming on the market, I want to be ready and waiting for the next stage of trials”. Some clinics are putting on extra sessions at the moment and those people that were always in the “at risk” category are coming out of the shadows.

What about children whose parents carry the gene?
A parent can’t get the child tested for Huntington’s because it’s an adult onset disease and it’s the individual’s choice to know whether or not they have it. When they reach 18 they can then make the decision to take the test.

It’s a fairly lengthy process, usually involving at least three sessions of genetic counselling, before they take the gene test. Normally that test would give you a direct answer of “yes you’re going to get it in the future” or “no you are not”.

It can’t tell you when you are likely to get the disease. A lot of people tend to take the test when they come to think about having children.

Finding out you will develop Huntington’s must be devastating. How do people cope?
It is incredibly difficult to deal with. For a number of years now we’ve been running a young adult conference for people aged 18 to 35 which talks about things like testing, having children and coping mechanisms.

One of the hardest things for people with the disease is the fact that it’s so rare. In the past, people would probably go through their lives and never meet anyone outside their family that had the condition.

A massive part of our work as a charity is trying to bring people together. Now through social media and the internet, this is a lot easier. Huntington’s is also a difficult disease to describe because it can present itself 
in many different ways.

Most people with Huntington’s are likely to be the only person on their GP’s caseload with the disease.
Every time they see a professional, like a therapist, physio or OT, they are unlikely to have dealt with other people with the disease. The individual must start afresh each time, explaining their situation.

What are the financial implications of Huntington’s diagnosis?
Since Huntington’s goes from generation to generation in the same family, a lot of our families unfortunately live with a certain level of poverty or at least struggle to make ends meet. People might have given up work to take on carers responsibilities generation after generation.

Unlike a brain injury patient, for example, whose care might be supported by compensation funds, Huntington’s patients tend to rely heavily on NHS and social care.

Given current challenges in the NHS, are Huntington’s patients getting access to the care they need?
The most challenging area in terms of support for people with the disease is mental health. Some people with Huntington’s have very severe mental health needs and it’s really difficult to get them into services.

Quite often they’ll be bounced around between physical disability-related and mental health services. One of our key roles as a charity is empowering health and social care professionals to play their part in supporting people with the disease.

Counselling can be really, really beneficial but is something that is lacking as a whole, across the country. As a charity, we seem to be picking up a lot of the pieces because statutory services are dropping away.

Is there a growing number of specialist centres for Huntington’s patients?
Specialist clinics tend to crop up where there has been special interest from a neurologist or clinical team.

They work fairly individually but provide an essential service to people with Huntington’s. The growth of this network of clinics has been aided by a greater push for research in recent years.

This is largely through the Enrol-HD, a global observational study for Huntington’s families which links into specialist clinics. We try to encourage people to sign up because they are then tracked along the way.

Access to specialist clinics is limited in some parts of the country and more coverage 
is needed.