New quality of life questionnaire aims to give voice to Huntington’s patients
'Reliable, easy-to-use' tool could be used to help guide clinical trials
Written by |
A team led by scientists at a U.K. research organization has created a questionnaire to measure quality of life among people with manifest Huntington’s disease, meaning those who are experiencing the hallmark motor symptoms that characterize the genetic disorder.
Dubbed the Huntington’s Disease Manifest Quality of Life measure (HD-mQoL), the questionnaire — whose development was spearheaded by Galen Research — “provides clinicians and researchers with a reliable, easy-to-use tool for assessing QoL [quality of life] from the patient’s perspective in manifest HD [Huntington’s disease],” according to a new study by the team.
The scientists are hopeful that the HD-mQoL will prove a useful tool for capturing the lived experiences of people with manifest Huntington’s, especially among participants in clinical trials that are testing potential disease-modifying treatments.
The questionnaire’s creation and testing were described in a study titled “Development and validation of the first needs-based quality of life measure for individuals with manifest Huntington’s disease,” which was published in the Journal of Neurology.
The work was funded by European Union Joint Program Neurodegenerative Disease Research, and was part of a multinational project, called HealthE-RND, that brings together partners in six European countries. Galen is an independent scientific group in England that bills itself as the leading expert in developing questionnaires used for medical research.
According to Ian McKenna, Galen’s CEO, HD-mQoL’s “biggest impact is likely in the clinical trial setting where measuring patient value can inform both regulatory and market access decision making.”
In a written Q&A with Huntington’s Disease News, McKenna said that, “although some treatments are showing very promising results in [biomarker assessments], it is very important that these trials are designed to incorporate the voice of the patient into decision-making.” Per McKenna, “this is where the HD-mQoL can be of real value.”
New tool designed for those with hallmark motor symptoms
Galen is already in talks with pharmaceutical companies to use the new tool in Huntington’s clinical trials. The group’s scientists would like to work with academic researchers to assess the questionnaire’s utility in evaluating the effects of nondrug interventions.
“We believe that it will be combinations of different treatments at different stages of the HD trajectory, both clinical and non-clinical that will improve the lives of patients and their families most effectively,” McKenna said. “We have developed a series of measures that are capable of accurately assessing the value of these treatments from the patient’s perspective and we are very keen to continue this work further.”
A progressive condition, Huntington’s affects the brain, leading to a range of symptoms, such as movement disorders, emotional disturbances, and cognitive challenges. These symptoms can have substantial impacts on patients’ quality of life.
“Many existing measures used in HD research tend to focus on symptoms and functioning, which are very useful for assessing clinical interventions, but tend to be designed by clinicians, overlooking the lived experience of patients,” McKenna said.
While a few life quality questionnaires specific to Huntington’s have been developed, these were typically designed for a broad population, from people who carry a disease-causing mutation but don’t yet have symptoms — individuals dubbed premanifest carriers — all the way through to people with advanced disease. Because patients’ needs evolve over time as the disease progresses, these measures can be nonspecific and may include items that aren’t relevant for the individual being assessed, the study noted.
Another problem with such measures is that they’ve usually been multidimensional, meaning QoL is measured on different, varying scales. This can be useful in some contexts, but without a single score to measure overall quality of life, researchers often have difficulty interpreting the data, per this team.
The HD-mQoL was developed to address these limitations. The researchers noted that, in addition to capturing “the extent to which fundamental human needs are met or unmet as a consequence of HD,” the new 23-question tool combines responses to produce a single score indicative of overall life quality. The score, the team noted, can be used to monitor change over time.
Quality of life questionnaire aims for patient perspective
The new questionnaire was specifically designed for people with manifest Huntington’s who are able to reliably report their own experiences. Its creation involved interviews with more than 100 people with manifest Huntington’s living across Europe, and a subsequent validation survey completed by more than 200 patients.
The interviews allowed the identification of 11 themes related to the disease’s impact on patients’ needs, including autonomy, safety and security, interests and hobbies, and esteem. The initial 50 questions, or items, that were created to represent all major themes were progressively reduced to 23.
“Patient feedback on the wording, language and relevance of items enabled us to adjust the 50-item draft measure to accurately reflect their experience or even remove them entirely if they were deemed unsuitable,” McKenna said.
During the testing phase, the tool was found to be reliable, including across countries, according to the team. Further, it successfully distinguished patients with different disease severity and general health, the scientists noted.
The researchers are hopeful that the HD-mQoL could be incorporated into clinical trials.
It is important to remember that the clinician is the expert in [Huntington’s], but the patient is the expert at living with the disease. … When evaluating treatments, it is vital that the value that the patient perceives is a primary consideration.
“A clinical trial may show a treatment produces small delay in the onset of the disease and slows the progression over time. To a healthcare decision maker this may seem to be inconsequential, however to patients small improvements can translate to far larger benefits,” McKenna said.
McKenna said the team was guide, first and foremost, by giving a voice to those living with manifest Huntington’s.
“It is important to remember that the clinician is the expert in HD, but the patient is the expert at living with the disease,” McKenna said. “When evaluating treatments, it is vital that the value that the patient perceives is a primary consideration.”
The researchers are also working on a proxy measure for manifest patients who are less able to self-report their experiences and QoL measures focused at other populations affected by Huntington’s, including premanifest carriers and partners of people with premanifest and manifest disease.
Leave a comment
Fill in the required fields to post. Your email address will not be published.