Original Article: Simpson JA, Lovecky D, Kogan J, et al. Survey of the Huntington’s Disease Patient and Caregiver Community Reveals Most Impactful Symptoms and Treatment Needs. J Huntingtons Dis. 2016 Dec 15;5(4):395-403.
In 2012, the US Food and Drug Administration (FDA) launched a Patient-Focused Drug Development Initiative as required under the fifth authorization of the Prescription Drug User Fee Act. The goal of this initiative was to systematically gather patients’ perspectives on their conditions and the available therapies to treat them. As part of this initiative, the FDA scheduled approximately 20 public meetings, each focused on a specific disease area. HD was chosen as one of the diseases for public input. After announcing that the meeting would be held in 2015, the Huntington’s Disease Society of America (HDSA) distributed two surveys to solicit specific comments from HD patients and their caregivers regarding symptomatology, quality of life, and therapeutic needs. The HD community responded enthusiastically, with 2,591 people providing answers for questions in the symptom-focused survey, and 1,040 people providing answers to questions in the treatment-focused survey. The objectives of these surveys were to identify the specific symptoms that most impact the daily lives of individuals with HD or juvenile HD (JHD) and their caregivers, and to identify the types of treatments desired by HD-affected families.
Although HD has long been classified as a motor disease, analysis of the data revealed that individuals with HD/JHD perceived symptoms related to dysexecutive syndrome to be most impactful (22% of responses). Caregivers responded even more strongly regarding the impact of dysexecutive syndrome, with 54% of caregivers identifying a combination of behavioral and cognitive symptoms such as anger/rage, anxiety, cognitive decline, and depression/apathy as having the greatest impact on daily life.
Although caregivers and HD patients aligned on some responses, there were also major divergences between the two groups. Perceptions of symptom frequency differ vastly between HD patients and their caregivers (See Figure). Nearly 14% of the 248 individuals with HD/JHD reported that they never experience HD symptoms, while just 1% of caregivers reported that they never observe symptoms in their loved ones. Greater than 80% of caregivers said they constantly saw symptoms in their loved ones, while less than 35% of individuals with HD/JHD reported constant HD symptoms.
Caregivers also responded more frequently that their loved ones with HD had completely lost their ability to perform a task, with 60% responding that their loved ones had completely lost the ability to work, drive, manage finances, take care of family, multi-task, or engage in a sex life. More than 85% of caregivers responded that their loved ones had completely lost their employability, while only 47% of individuals with HD/JHD responded similarly. Less than 50% of HD/JHD respondents said that they had completely lost the ability to do any of the 19 daily tasks listed in the survey. Caregivers also reported cognitive symptoms at greater rates compared to individuals with HD/JHD. However, data for both caregivers and individuals with HD/JHD suggest that an inability to maintain employment was among the most frequently experienced effects of HD on their lives.
When discussing treatments, data showed that very few individuals were taking any prescribed or not prescribed medications for some of the most impactful symptoms of the disease, such as dysexecutive syndrome. More than 80% of respondents noted that they or their loved ones with HD were not taking any kind of medication for deterioration in memory and thinking. Similarly, more than 40% of respondents noted that they or their loved ones were not using any form of medication to manage perseveration or anxiety, which can also be associated with dysexecutive syndrome. The only FDA-approved drug to treat a symptom of HD is tetrabenazine (Xenazine), which is used to treat chorea associated with HD. Even with an FDA-approved treatment, nearly 40% of respondents reported being unaware of, or not using, any medication to treat chorea. Just 23% of respondents reported taking tetrabenazine to treat chorea.
The efforts of the FDA in the implementation of the patient-focused drug development meetings are already creating a positive impact on the lives of patients across the spectrum of diseases. Patient and caregiver perspectives on HD symptomatology and treatment efficacy will be critical components in shaping future HD clinical development efforts. With this information, we can tailor clinical development efforts to treat the symptoms that those impacted by HD believe are the most disruptive.
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