Publications

Background: Limited data suggests that an altered metabolic and cardiorespiratory exercise response may affect exercise performance in individuals with Huntington's Disease (HD). there is no clear exploration of the response in individuals at different stages of the disease or in relation to genetic markers. This study aimed to examine the exercise response and recovery of HD participants and the relationship to genetic and clinical markers.

Method: HD gene-positive participants (n=31, 9 pre-manifest; 22 manifest HD) and a healthy control group (n=29) performed an incremental exercise test until exhaustion. Performance, cardiorespiratory, metabolic and perceptual responses to exercise were determined from a maximal cycle ergometer test throughout the exercise test and during a recovery period.

Conclusions: Our findings confirm metabolic and cardiorespiratory deficits reduce exercise performance and affect recovery from an early stage in HD, with submaximal deficits related to phenotypic expression. Exercise capacity appears to be limited by an altered movement economy, thus clinicians should consider an altered exercise response and recovery may affect prescription in HD.

Many robotic devices in rehabilitation incorporate an assist-as-needed haptic guidance paradigm to promote training. This error reduction model, while beneficial for skill acquisition, could be detrimental for long-term retention. Error augmentation (EA) models have been explored as alternatives. A robotic Tethered Pelvic Assist Device has been developed to study force application to the pelvis on gait and was used here to induce weight shift onto the paretic (error reduction) or nonparetic (error augmentation) limb during treadmill training. The purpose of these case reports is to examine effects of training with these two paradigms to reduce load force asymmetry during gait in two individuals after stroke (>6 mos). Participants presented with baseline gait asymmetry, although independent community ambulators. Participants underwent 1-hr trainings for 3 days using either the error reduction or error augmentation model. Outcomes included the Borg rating of perceived exertion scale for treatment tolerance and measures of force and stance symmetry. Both participants tolerated training. Force symmetry (measured on treadmill) improved from pretraining to posttraining (36.58% and 14.64% gains), however, with limited transfer to overground gait measures (stance symmetry gains of 9.74% and 16.21%). Training with the Tethered Pelvic Assist Device device proved feasible to improve force symmetry on the treadmill irrespective of training model. Future work should consider methods to increase transfer to overground gait.

Background and purpose: Approximately 9000 people in the UK are affected by Huntington's disease (HD). People with HD require ongoing health and social care support. There is a knowledge gap about costs of health and social care use associated with HD in the UK. This paper estimates the economic cost in the UK.

Methods: Data on UK patients for the year 2013 were extracted from the European Huntington's Disease Network REGISTRY study, a full clinical dataset, including the full medical history and medication history for patients with HD. National unit costs for the price year 2013 were applied to health and social care services.

Results: Data were available for 131 people. The mean annual cost per person with HD was £21 605. The largest proportion of this cost (65%) was due to informal care (£14 085).

Conclusions: Informal care was the largest driver of costs across all stages of HD; thus there is a need to also consider the needs of carers when planning services for people with HD.

Background/Purpose: The development and delivery of a 14-week complex physical activity intervention for people with Huntington's Disease (HD) where detailed information about the intervention was embedded in the trial design process.

Methods: The intervention was developed through a series of focus groups whose findings informed the development of a logic model that was broadly consistent with the framework of self-determination theory. Key components underpinning the delivery of the intervention were implemented including a defined coach training program and intervention fidelity assessment methods. Training of coaches was delivered via group and 1:1 training sessions using a detailed coach's manual, and with ongoing support via video calls, and e-mail communication as needed. Detailed documentation was provided to determine costs of intervention development and coach training.

Results: Intervention delivery coaches at 8 sites across the United Kingdom participated in the face-to-face training. Self-report checklists completed by each of the coaches indicated that all components of the intervention were delivered in accordance with the protocol. Mean (standard deviation) intervention fidelity scores (n = 15), as measured using a purpose-developed rating scale, was 11 (2.4) (out of 16 possible points). Coaches' perceptions of intervention fidelity were similarly high. The total cost of developing the intervention and providing training was £30,773 ($47,042 USD).

Discussion/Conclusions: An important consideration in promoting translation of clinical research into practice is the ability to convey the detailed components of how the intervention was delivered to facilitate replication if the results are favorable. This report presents an illustrative example of a physical activity intervention, including the development and the training required to deliver it. This approach has the potential to facilitate reproducibility, evidence synthesis, and implementation in clinical practice.

Background: Complex intervention trials are associated with high costs and burdens across multiple sites. Traditional data collection methods can be time-consuming with error rates high. Electronic source data collection can address many of these inefficiencies, but has not routinely been used in complex intervention trials. We present the use of an online system for managing all aspects of data handling and for monitoring of trial processes in a multicentre trial of a complex intervention. We built a web-accessible software application for the delivery of ENGAGE-HD, a multicentre trial of a complex physical therapy intervention. The software incorporated functionality for participant randomisation, data collection and assessment of intervention fidelity. It allowed multiple users with differing access levels based on required usage or to maintain blinding. Each site was supplied with a 4G-enabled iPad for accessing the system. The impact of this system was quantified through review of data quality and collation of feedback through structured process interviews.

Results: The system was an efficient tool for collecting data and managing trial processes. Although the setup time required was significant, using the system resulted in an overall data completion rate of 98.5% with a data query rate of 0.1%, the majority of which were resolved in under a week. Feedback from staff indicated that the system was acceptable for use in a research environment. This was a reflection of the portability and accessibility of the system and its usefulness in aiding accurate data collection, intervention fidelity and general administration.

Conclusions: A combination of commercially available hardware and a bespoke online database provides a viable option for streamlining trial processes in a multicentre complex intervention trial. There is scope to further extend the system to cater for larger trials and add further functionality such as automatic reporting facilities and participant management support.

Huntington’s disease (HD) is neurodegenerative condition resulting in symptoms that occur across a wide range of neurological domains. The benefits of regular physical activity for people with HD are widely recognized. However, a number of factors can prohibit sustained exercise and activity. The purpose is to explore the feasibility, acceptability and effectiveness of a physical activity intervention program targeted for people with early to midstage HD. 

The proposed trial is a single blind, multisite, exploratory, randomized controlled feasibility trial of a physical activity intervention. 62 participants with genetically confirmed HD will be recruited. Each participant will be involved for 26 weeks. Participants will be randomized immediately following the baseline assessment into either a physical activity intervention or a social contact control intervention. The physical activity intervention is framed around self-determination theory placed within a broader behaviour change wheel framework. An HD-specific workbook and individual goal setting will be utilized over six 1:1 sessions, with interim telephone calls. All participants will be reassessed at 16 weeks following the baseline assessment, and then again at a final follow-up assessment 26 weeks later. After the study, all participants will be offered a brief version of the alternative intervention, with one home visit and one follow-up telephone call. 

The physical activity intervention and the comparator social interaction intervention have been developed following consultation with people with HD and their families. Each are individually tailored and determined on individual needs and goals. The results from this trial will provide guidance for the development of definitive trials. 

Background: Limited data suggests that an altered metabolic and cardiorespiratory exercise response may affect exercise performance in individuals with Huntington's Disease (HD). there is no clear exploration of the response in individuals at different stages of the disease or in relation to genetic markers. This study aimed to examine the exercise response and recovery of HD participants and the relationship to genetic and clinical markers.

Method: HD gene-positive participants (n=31, 9 pre-manifest; 22 manifest HD) and a healthy control group (n=29) performed an incremental exercise test until exhaustion. Performance, cardiorespiratory, metabolic and perceptual responses to exercise were determined from a maximal cycle ergometer test throughout the exercise test and during a recovery period.

Conclusions: Our findings confirm metabolic and cardiorespiratory deficits reduce exercise performance and affect recovery from an early stage in HD, with submaximal deficits related to phenotypic expression. Exercise capacity appears to be limited by an altered movement economy, thus clinicians should consider an altered exercise response and recovery may affect prescription in HD.