Perceptions about Research Participation among Individuals at Risk and Individuals with Premanifest Huntington’s Disease: A Survey Conducted by the European Huntington Association

Abstract

There has been great progress in Huntington’s disease (HD) research. Yet, effective treatments to halt disease before the onset of disabling symptoms are still unavailable. Scientific breakthroughs require an active and lasting commitment from families. However, they are traditionally less involved and heard in studies. Accordingly, the European Huntington Association (EHA) surveyed individuals at risk (HDRisk) and with premanifest HD (PreHD) to determine which factors affect their willingness to participate in research. Questions assessed research experience and knowledge, information sources, reasons for involvement and noninvolvement, and factors preventing and facilitating participation. The survey included 525 individuals, of which 68.8% never participated in studies and 38.6% reported limited research knowledge. Furthermore, 52% trusted patient organizations to get research information. Reasons for involvement were altruistic and more important than reasons for noninvolvement, which were related to negative emotions. Obstacles included time/financial constraints and invasive procedures, while professional support was seen as a facilitator. PreHD individuals reported less obstacles to research participation than HDRisk individuals. Overall, a high motivation to participate in research was noted, despite limited experience and literacy. This motivation is influenced by subjective and objective factors and, importantly, by HD status. Patient organizations have a key role in fostering motivation through education and support.

Preventive drugs for Huntington’s disease: A choice-based conjoint survey of patient preferences

“…The slight difference in preference is likely due to presymptomatic individuals having increased knowledge of HD research. Mutant huntingtin protein has been an important topic of the research community for years and previous research has observed that the presymptomatic community has a significantly higher level of knowledge of HD research compared to untested at-risk individuals [38]. While there is a slight difference in perception, both subgroups' view of mHTT was significantly increased compared to other attributes.…”

Readiness for Parkinson’s disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic

“…Firstly, the majority of participants in these previous studies were White and well-educated, reducing the usefulness of these results to individuals of differing racial, cultural, and socioeconomic backgrounds. Another consideration is that data from research in Huntington disease suggest interest may not translate into actual uptake of genetic testing and counseling 14 , 15 , although data from a large clinical trial in North America supports a robust interest and participation in PD testing in North America, with high participant satisfaction, when barriers to testing and counseling are reduced 8 . This clinical trial known as the PD GENEration study (PD GENE) launched in 2019 and offers free genetic testing and counseling in a clinical setting to those with PD.…”

Myelinosome Organelles in the Retina of R6/1 Huntington Disease (HD) Mice: Ubiquitous Distribution and Possible Role in Disease Spreading

“…HD also manifests multiple abnormalities in peripheral organs such as the heart, skeletal muscle, thyroid, and the digestive and reproductive tracts [ 5 , 6 ]. Effective treatments to halt disease before the onset of disabling symptoms are still unavailable [ 7 ], but education and symptomatic therapies are the current tools for clinicians to use with patients and families affected by HD [ 8 , 9 ]. The epidemiology of HD reveals gross differences in the prevalence of HD by ancestry, with a much higher rate of the disease in populations of European descent, which varies between 1.6 and 12.3 cases per 100,000 [ 10 ].…”