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Huntington's disease

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Clinical trials for Huntington's disease

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12 clinical trials in this condition

Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:VOTOPLAM
  • Sponsor:Novartis Pharma AG
Countries:FranceFrance
  • Participants:18–64 years · Healthy volunteers
  • Substances:2-[2-[3-[4-(2-(18F)FLUORANYLETHOXY)PHENYL]-7-METHYL-4-OXOQUINAZOLIN-2-YL]ETHYL]-4-PROPAN-2-YLOXYISOINDOLE-1,3-DIONE
  • Sponsor:Assistance Publique Hopitaux De Paris
Countries:DenmarkDenmark
  • Participants:18–64 years
  • Substances:Vo659
  • Sponsor:Vico Therapeutics B.V.
Countries:SpainSpain
  • Participants:18–64 years · 65+ years
  • Substances:Biotin
  • Sponsor:Fundacion Publica Andaluza Para La Gestion De La Investigacion En Salud De Sevilla
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In short

Huntington's disease is an inherited condition that causes brain cells to gradually break down and die, leading to uncontrollable movements, changes in thinking, and emotional challenges. While there is currently no cure, treatment and support can help people manage symptoms and maintain quality of life for many years.

What is Huntington's disease?

Huntington's disease is an inherited disorder that causes nerve cells (also called neurons) in parts of the brain to gradually break down and die. The disease attacks areas of the brain that help control voluntary movement, as well as other areas responsible for thinking and emotion.

The condition is relatively rare. It affects an estimated 3 to 7 out of every 100,000 people, most often people of European ancestry. Huntington's disease is also known as a family disease because every child of a parent with the condition has a 50/50 chance of inheriting it.

The disease deteriorates a person's physical and mental abilities, usually during their prime working years, and currently has no cure. However, medicines and therapies are available to help manage symptoms and improve quality of life.

Causes and inheritance

A genetic change, also called a mutation, in the HTT gene causes Huntington's disease. This gene normally makes a protein called huntingtin, which helps nerve cells function properly. In Huntington's disease, the DNA doesn't have all the information needed to make the huntingtin protein correctly.

The mutation occurs because of an expansion of CAG trinucleotide repeats in the HTT gene on chromosome 4. This leads to an abnormally long polyglutamine expansion in the huntingtin protein, which causes the proteins to grow in an abnormal shape. Instead of helping neurons, these abnormal proteins destroy them, causing nerve cells to die.

The destruction of nerve cells happens mainly in the basal ganglia, the region of the brain that regulates body movements. It also affects the brain cortex, which controls thinking, decision-making, and memory. The disease particularly affects an area deep in the brain called the striatum, which plays a key role in movement, mood, and behavior control.

  • Brain
  • Basal ganglia
  • Striatum
  • Brain cortex

If you have Huntington's disease, you can pass the genetic change to your children. This is called an autosomal dominant pattern of inheritance. If one of your biological parents carries the genetic change, you have a 1 in 2 (50%) chance of inheriting the gene and developing the disease. In rare cases, the genetic change happens without any history of the condition in the biological family.

The longer the CAG repeats in the gene, the earlier symptoms tend to appear. If you have the altered gene, you may have no symptoms for many years, but eventually you will develop Huntington's disease.

Symptoms and stages

Types of Huntington's disease

There are two main types of the condition:

  • Adult onset: This is the most common form. Symptoms usually begin after age 30, typically between ages 30 and 50.
  • Early onset (juvenile Huntington's disease): This rare form affects children and teenagers before age 20. It is often characterized by learning difficulties, behavioral disturbances, and seizures.

Physical symptoms

One of the first and most recognizable physical symptoms is chorea, which means uncontrolled dance-like movements. Chorea involves unintended jerks or twisting movements that usually affect the hands, fingers, and facial muscles first. Later, it also makes the arms, legs, and torso move uncontrollably.

These movements can become more intense when the person is nervous or distracted. For some people with Huntington's disease, chorea can make it harder to walk, which increases the chances of falling. Interestingly, some people do not develop chorea at all. Instead, they may become rigid and move very little or not at all, a condition called akinesia.

Other physical symptoms may include:

  • Loss of coordination and balance
  • Clumsiness
  • Trouble walking
  • Difficulty swallowing
  • Slurred speech
  • Unusual fixed postures (dystonia)
  • Tremor
  • Unusual eye movements
  • Weight loss
  • Insomnia and trouble sleeping
  • Loss of energy and fatigue
  • Seizures

Physical symptoms may start in small ways, such as difficulty holding a pen or losing balance, and then get worse over time.

Cognitive and mental symptoms

Huntington's disease also causes changes in thinking abilities. People may experience problems with:

  • Memory
  • Attention and concentration
  • Focus and multitasking
  • Planning and organizing tasks
  • Making decisions and reasoning
  • Judgment
  • Learning new information
  • Putting thoughts into words

These cognitive changes get worse as the disease progresses. Eventually, the thinking problems can interfere with the ability to work, keep track of appointments, or manage finances.

Emotional and behavioral symptoms

The disease can cause significant emotional and behavioral changes, including:

  • Mood swings
  • Depression
  • Anxiety
  • Irritability
  • Impulsive behavior
  • Changes in personality

Sometimes, behavioral and cognitive changes appear long before any movement-related symptoms develop. Family members may notice these personality changes before the person with the condition becomes aware of them.

Disease progression

The disease gets worse over time. Early symptoms might not affect daily life much at first, but over time, these symptoms make usual tasks more difficult to do on your own. Eventually, the person will need to stay in bed or use a wheelchair. People with Huntington's disease live an average of 18 to 20 years after being diagnosed. Common causes of death include pneumonia and complications from immobility.

Diagnosis and genetic testing

A doctor can make a preliminary diagnosis of Huntington's disease based on your answers to questions, a general physical exam, and your family medical history. A neurologist, a doctor who specializes in conditions affecting the brain, will perform tests to check motor symptoms like reflexes, muscle strength, and balance, as well as evaluate mental status and psychiatric symptoms.

The diagnosis can be confirmed with genetic testing, which looks for the CAG trinucleotide expansion in the HTT gene. This test can confirm the diagnosis if symptoms are present. The test may also help when there's no known family history.

If one of your parents has Huntington's disease or you have symptoms, you can choose to have a genetic test to find out whether you have the altered gene that causes the condition. This is called predictive testing or premanifest diagnosis. You'll usually need to be 18 or older to have the test.

It's your choice whether to have the test. As Huntington's disease cannot currently be prevented, some people choose not to get tested, especially if they do not have symptoms. Your doctor can arrange an appointment with a specialist called a genetic counselor, who can help you decide and provide both social and psychological support before testing is done.

Brain imaging tests such as MRI or CT scans can show detailed images of the brain. These images may reveal changes in areas affected by Huntington's disease, although these changes may not show up early in the course of the disease. These tests can also be used to rule out other conditions that may be causing symptoms.

Treatment and management

There is currently no cure for Huntington's disease, and no treatments can stop the symptoms from getting worse. The aim of treatment is to help manage symptoms and keep people comfortable and independent for as long as possible.

People with Huntington's disease are supported by a team of healthcare professionals who help create a care plan. Treatment options may include:

Medications

Tetrabenazine is a dopamine-depleting medication that may be one of the more effective treatments for reducing chorea, although it has a risk of potentially serious side effects. Some newer medications, such as olanzapine and aripiprazole, may have adequate effectiveness with a more favorable side effect profile for treating chorea and psychosis.

Other medicines that might be offered include:

  • Antidepressants for depression
  • Medicines to help with mood and behavior changes
  • Medicines to help with twitching and jerking movements

Therapies

Various therapies can help manage symptoms and maintain function:

  • Physical therapy: Exercises prescribed by a physical therapist can help delay the worsening of balance problems and maintain strength as long as possible. Research studies suggest that exercise is beneficial for reducing symptoms and maximizing function.
  • Occupational therapy: Helps with daily activities and may include adaptive devices to make hobbies and tasks easier.
  • Speech and language therapy: Addresses swallowing problems and communication issues.
  • Talking therapies: Such as cognitive behavioral therapy (CBT) for depression and mental health support.

Supportive care

As the disease progresses, patients become increasingly dependent on caregivers. Supportive care, including nutritional support, is essential. Good nutrition has been proven to be an important part of maintaining health and maximum functional ability for people with Huntington's disease.

Recent breakthrough in treatment

In September 2025, researchers announced a significant breakthrough in treating Huntington's disease. A new treatment called AMT-130 successfully slowed the disease's progression for the first time.

The treatment is a type of gene therapy that works by reducing levels of the toxic huntingtin protein permanently, in a single dose. It uses cutting-edge genetic medicine combining gene therapy and gene silencing technologies. The therapy starts with a safe virus that has been altered to contain a specially designed sequence of DNA.

This is infused deep into the brain during 12 to 18 hours of delicate brain surgery, using real-time MRI scanning to guide a tiny tube to specific brain regions. The virus then delivers the new piece of DNA inside brain cells, where it becomes active and turns the neurons into a factory for making the therapy.

In a small clinical trial of 29 participants, after three years, those who received the higher dose showed a 75 percent slower disease progression compared to those who did not receive the treatment. This means the decline you would normally expect in one year would take four years after treatment, giving patients decades of good quality life.

The treatment helped trial participants maintain more of their movement, thinking, and daily functioning abilities without causing significant side effects. Some patients who were medically retired have returned to work, and others in the trial are still walking despite being expected to need a wheelchair.

While treatment is likely to be very expensive and researchers remain cautious since results are only from a small number of patients, this represents a moment of real hope in a disease that hits people in their prime and devastates families.

Living with the condition

Huntington's disease affects how long you'll live and how it affects you depends on your symptoms and how quickly they get worse. Most people live for many years after symptoms start, but eventually need support with daily living.

Having Huntington's disease or having a parent with it can affect decisions like planning for the future and starting a family. You'll be offered support for your wellbeing and mental health, as well as help for any physical symptoms.

Staying independent and active

There are several ways to help maintain independence and quality of life:

  • Stay active: Gentle exercises like yoga and walking can help maintain strength. Challenging your brain with engaging activities such as reading, playing games, and solving puzzles may help it remain stronger for longer.
  • Create a safe space: Modify your home to reduce fall risks by removing clutter, getting rid of throw rugs, ensuring electrical cords aren't tripping hazards, using nighttime lights, and installing grab bars near toilets and bathtubs.
  • Pursue hobbies: Adaptive devices can make it easier to keep up with interests, especially in the early stages of the disease.
  • Stay connected: Spending time with family and friends and participating in meaningful activities is good for physical and mental health.
  • Maintain good nutrition: A balanced diet centered around nutritious foods can improve energy levels. Adaptive devices like utensils with bigger handles and plates with spill guards can help.

Mental health and coping

Being diagnosed with a permanent health condition can be frightening and cause anxiety. Scheduling regular time with a counselor or therapist can help navigate the emotional challenges of a diagnosis.

Anxiety is probably the most common mental health challenge for people living in Huntington's disease-impacted families, whether they're at risk themselves or have already chosen to test. Many people also face a mental health crisis around grief, often cycling through stages of grief over and over again.

Self-care practices can include simple things like being present with loved ones, spending time outside, pursuing creative activities such as music and art, and joining support groups to interact with others dealing with similar issues.

Help and support

Huntington's disease can be a difficult condition for the whole family. You'll be offered support for your wellbeing and mental health throughout your care.

Healthcare teams will discuss how the condition may affect you and your family. You may be offered genetic counseling to help understand your diagnosis and how family members may be affected.

Many families find it helpful to connect with organizations that specialize in supporting people affected by Huntington's disease. Support groups, whether in-person or online, allow people to share experiences and learn from others facing similar challenges.

For caregivers, managing challenging behaviors can be particularly difficult. These emotional and behavioral symptoms, such as apathy, irritability, impulsivity, and disorganization, result from brain changes in the disease and are not within the person's control. Understanding these symptoms as part of the disease rather than personal failings, maintaining consistent routines, using visual reminders, and seeking support from healthcare teams and support groups can help caregivers manage these challenges.

This guide is here to help you understand the condition. It does not replace a conversation with your doctor, who knows your situation best.

Where to find support

Patient organisations offering help, community and advocacy

Related conditions in the same therapeutic area

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