SummaryTune into another episode in the Avalere Health Essential Voice podcast series focused on disease education. In this segment, our experts from the Center for Healthcare Transformation discuss Huntington’s Disease, its impact on caregivers, the complexities of genetic testing, and potential treatment options for this rare disorder.
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Kristi: Hello, and welcome to another episode of the Avalere Health Essential Voice Disease Education series. In this series, we cover topics on a wide range of therapeutic focus areas.
My name is Kristi Mitchell, and I’m the Practice Director for the Center for Healthcare Transformation at Avalere Health. I’m joined today by my colleagues Emily Belowich, a Consultant in our Center, and Michelle Bruno, an Associate Principal. Thank you both for joining me.
In today’s episode, we’ll be talking about Huntington’s Disease. To get us started, Emily, can you tell me a little bit about this rare disease?
Emily: Sure, and thanks so much for that introduction, Kristi. Huntington’s Disease, or HD, is a rare genetic disorder with pervasive effects on patient functioning. It is caused by a mistake in the DNA, which is made up of thousands of genes. People with HD have a small error in one gene called Huntington.
Over time, this error causes damage to the brain and leads to the manifestation of HD symptoms, which are categorized in 3 major ways. The first is physical, meaning uncontrolled movement of the arms, legs, head, face, and upper body. The second is cognitive, which includes a decline in thinking and reasoning skills. The third is psychological, like alterations in mood, irritability, or depression.
Researchers sometimes categorize those living with HD as some combination of Parkinson’s, Alzheimer’s, and ALS. It really is an awful disease for patients and their families to endure.
Kristi: Thank you for sharing about the manifestation of these symptoms. When do these symptoms appear, and what is the epidemiologic burden of this disease here in the US?
Emily: HD symptoms typically begin mid-life, somewhere between the ages of 30 and 80. However, it is possible for individuals to develop symptoms as early as age 2 or as late as age 80.
About 30,000 people in the US are living with HD and more than 200,000 are at risk for developing the condition. However, many more are living with this on the global scale.
Kristi: So, we know that those with HD often rely on support from their caregivers. Can you tell us about some of the challenges that their caregivers may face?
Emily: Given the manifestation of symptoms and HD’s impact on activities of daily living, combined with the genetic discourse, HD is known as a family disease. Every child with a parent who has HD has a 50/50 chance of inheriting the faulty gene. As such, diagnosis of HD has a wide-ranging impact, both on individuals living with the disease and their caregivers.
Additionally, rare disease presents unique challenges in caregiver burden. There is a shortage of rare disease physicians in the United States, which often makes it challenging for caregivers to seek out formal avenues of support. The hereditary nature of HD means caregivers are likely to have several family members living with the disease, while also worrying about being affected by the disease themselves.
Additionally, HD challenges that psychosocial complex, things like family system stability, family structure, and family vulnerability. It also affects parental function because the ability to fill the parental role decreases during the course of the disease.
The last thing I’ll say about HD and caregiving is that HD is also characterized by a slower progression of symptoms, so caregiving can last up to 30 years.
Kristi: Wow, that is amazing. I’m sure we’re going to talk a little bit more about that with Michelle.
People at risk for the disease face a difficult choice about genetic testing for HD given the current absence of effective treatment or care. What do we know about genetic testing at this point in time?
Emily: That’s a great question. There is such a layered complexity in the decision to be tested for Huntington’s disease. Individuals consider genetic testing to confirm a diagnosis when there is a documented family history of HD, and others have a parent with the disease and may choose to be tested to resolve any uncertainty about their future. So, a negative test can relieve anxiety and uncertainty, while a positive test often enables individuals to make important life decisions about careers and marriage and family.
Kristi: Thank you so much, Emily, for sharing that information. This is obviously a disease that takes an emotional, mental, financial, and physical toll on families.
I’d like to turn next to Michelle. Given that there is no cure for HD today, what can you tell us about how patients are currently treated?
Michelle: Hi, Kristi. Thanks. So, while new disease-modifying therapeutics are anticipated, what we’ve discovered is that there are no specific guidelines that speak to multidisciplinary care in HD. This lack of guidance has led to varied approaches to treatment and care coordination across the care continuum for these patients, such as approaches for genetic testing or different referral pathways. Patients really are treated across the board by neurologists, physical therapists, occupational therapists, cognitive behavioral therapists, and speech and language pathologists, among others. We believe that there’s an opportunity to develop resources to facilitate optimal care coordination for HD and hopefully enhance overall quality of care for these individuals.
Kristi: Building off this, Michelle, could you do a little bit of crystal balling? What does the future of HD care look like? Can you give us a hint as to what the future of cell and gene therapy may be in this space?
Michelle: Sure. So, as mentioned, there’s currently no cure for Huntington’s, but recent advances in genetic therapies hold a lot of promise. Advances in healthcare truly are driven by a continuous evidence-based process. It can take years to generate preclinical data that would inform decisions about advancing to clinical trials. Unfortunately, some clinical trials have been underway, but have halted due to making needed adjustments. However, optimism continues. It’s important to remember that a halted clinical trial doesn’t mean that there’s a failed drug. Development will continue.
Researchers would ideally like to treat people before the genetic mutation has caused any functional impairment, so that’s something that I think needs to be explored as well. As for the future of cell and gene therapy, it’s booming right now. The goal of cell and gene therapy is to treat disease at its root cause by repairing or enhancing cells at the genetic level. We are truly on the cusp of some very innovative breakthroughs and I’m looking forward to seeing how they advance.
Kristi: Thank you so much, Emily and Michelle. Your insights are invaluable to our listeners. Thank you all for tuning in to Avalere Health Essential Voice. Please stay tuned for more episodes in our Disease Education series. If you’d like to learn more, please visit us at Avalere.com/podcasts. Thank you.
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