Huntington’s disease (HD), also known as Huntington’s chorea, is an inherited neurodegenerative disorder that gradually degrades nerve cells and causes neuronal death. It affects around 3 to 7 people per 100,000, primarily of European descent with the disease less common amongst Asian and African people. The condition is predominantly found in adults and attacks brain areas involved in voluntary movement, resulting in uncontrolled, dance-like movements (chorea), abnormal body postures, challenges with behavior and emotional processing, and a loss of general cognition. Unfortunately, as with many neurodegenerative conditions, there is no cure, so current therapies on the market aim to minimize symptoms, especially for those in the later stages of HD. Xenazine, approved in 2008, is Lundbeck’s breakthrough drug to manage the involuntary movement symptoms. More recently in 2020, Teva Pharmaceutical Industries Ltd. received approval in China to release Austedo, a drug that treats chorea associated with HD. Drug development has been hindered by low awareness of HD in many markets, due to patients sometimes not being able to identify characteristic traits of HD within themselves. Furthermore, potential new assets have sadly demonstrated a lack of efficacy and even increased risk of toxicity. But despite these barriers, research in this area has not been stagnant, with the main focus on targeting the cellular mechanisms of the disease. For example, a major target has been trying to understand how the huntingtin protein affects the cellular cascade to determine which part of the pathway may be the best option for drug intervention. Other ongoing studies include: Identifying biomarkers (biological changes) that are useful and accurate predictors of HD. Finding genetic factors that influence disease progression to understand how they may play into drug development. Testing of drugs that may control for certain HD symptoms and using gene-editing on animal models. Promising changes in brain structure of people with the mutant HD gene, as research shows that brain morphology precedes symptoms. It is clear that HD is a major focus area for researchers, as they test different ways to diagnose and treat the disease while working towards the long-term goal of finding a cure. Exciting strides are being made, but neurodegenerative diseases are still an enigma to the scientific community. When it comes to conducting market research in the HD therapy area, there are a few key things to keep in mind: If you are looking for a patient element, we typically suggest also including carers in the research – patients may have difficulty with speech or sitting still for the entire duration of an interview, so it may be difficult for them to participate. Ensuring we obtain feedback from carers will also help us get a comprehensive overview of the patient journey and better understand the disease progression and symptomology. We usually advise that younger patients with HD may be better suited for interviews – since adult-onset HD is most common, symptoms become exacerbated with age. To find participants who are most suitable to share their experiences in an interview, it may be best to target younger adults. It is important to consider a representative sample in terms of gender. HD affects men and women equally – this will be important when considering the patient population, as experiences from both sexes will provide a full picture. We also appreciate the importance of including the wider HCP ecosystem. The care team of HD patients can consist of neurologists, psychiatrists, neuropsychologists, nutritionists, genetic counselors, social workers, and nurses. Thus, to best understand the dynamics of the care team, it is best practice to recruit from multiple of these specialties. FACT SHEET What is Huntington’s Disease? Huntington’s disease was named after Dr. George Huntington, the first physician to offer the most accurate and complete description of the condition for official diagnosis in 1872. The biological onset of Huntington’s is caused by a dominant, defective gene on chromosome 4 which codes for the huntingtin protein, making it so that a single parent can pass it onto their offspring. The disease is predominantly found in adults and attacks brain areas involved in voluntary movement, like the basal ganglia. This results in uncontrolled, dance-like movements (chorea), abnormal body postures, challenges with behavior and emotional processing, and a loss of general cognition. : Symptoms to be aware of: Adult-onset symptoms for Huntington’s disease typically develop between the ages of 30-50 years old. Early signs include clumsiness, problems with balance, behavioral changes, and difficulty thinking and expressing emotion. As HD progresses, uncontrolled movements in the fingers, feet, face, or torso become more pronounced. Conversely, another symptom of HD involves rigidity and stiffness, which may occur at a further progressed stage, as the patient may start out with having dance-like, involuntary motion but then their range of motion may become stiff. Tremors and altered posture are also tell-tale signs of HD. Patients with HD undergo a host of other major physical changes throughout the course of disease progression, such as slurred speech, difficulties swallowing and eating, waking, insomnia, seizures, etc. As HD runs its course, patients become wheelchair bound or bedridden. Cognitive changes also become more prominent, as problems with attention, problem-solving, decision-making, prioritizing tasks, learning, and remembering are brought to the surface. The impact of the disease on quality life can also affect behavior, as irritation, apathy, depression, and social withdrawal are commonly seen amongst HD patients. While HD is most frequently noted in adults, children and adolescents may also start experiencing symptoms early on, although this is rare. How is it diagnosed and treated? Fortunately, strides in modern medicine have created numerous tools that can be used to assess whether an individual has HD. Neurological exams are frequently administered, examining reflexes, balance, movement, and walking. Imaging using CT or MRI scans to identify areas of brain shrinkage and enlargement of ventricles. While these results are less reliable as standalone evidence, they can be combined with symptomology to make a compelling case. Genetic testing is the most important way to assess the risk for developing HD. Doctors look for a high volume of CAG repeats in the genetic code of the gene on chromosome 4 (typically 36 repeats or more). Prenatal testing can also be conducted to determine the likelihood of a newborn developing HD. As with most neurodegenerative disorders, a proper cure has yet to be found. There are therapies on the market that attempt to minimize symptoms, such as chorea and emotional regulation. However, at this point, drugs tend to be reserved for later stages of HD, when symptoms are strong enough to inhibit daily functioning. By Rifah Nanjiba Sources: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016378/#:~:text=George%20Huntington%20first%20encountered%20patients,was%20later%20named%20after%20him https://medlineplus.gov/genetics/condition/huntington-disease/ https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease#toc-how-is-huntington-s-disease-diagnosed-and-treated- https://www.databridgemarketresearch.com/reports/global-huntingtons-disease-treatment-market https://www.grandviewresearch.com/industry-analysis/huntingtons-disease-treatment-market Apply Now!