A randomised controlled feasibility trial of the Graded Repetitive Arm Strengthening Programme delivered to survivors of stroke at home

BACKGROUND/AIMS: This randomised controlled feasibility trial evaluated the recruitment, engagement and effect of the Graded Repetitive Arm Strengthening Programme in a community rehabilitation setting in London, UK. METHODS: A parallel design was used to ascertain the effect of the Graded Repetitive Arm Strengthening Programme plus standard care compared to standard care only over four weeks. Eleven participants were randomised using permuted blocks randomisation following discharge, with six participants allocated to the Graded Repetitive Arm Strengthening Programme (study) group and five to the standard care (control) group. The primary outcome was the Wolf Motor Function Test. Secondary outcomes were the Motor Activity Log and grip strength. RESULTS: A total of five participants in each group were analysed as one person withdrew from the study group. Participants in the study group gave more time to supplementing their exercise time independently (160% more vs 42% more). Most Wolf Motor Function Test tasks' time and function data showed a small difference in favour of the Graded Repetitive Arm Strengthening Programme. Results were re-examined using a Bayesian structural equation model to quantify changes in the underlying impairment. This showed significant differences: 40% faster task completion (P<0.001, 95% confidence level [CI] 30–49%), mean improvement of 0.54 on the five-point functional ability score (P<0.001, 95% CI 0.39–0.68), odds ratio of 0.05 for non-completion of task (P<0.001, 95% CI 0.02–0.14). CONCLUSIONS: This study has shown that implementing the Graded Repetitive Arm Strengthening Programme is feasible and may have a greater effect on outcomes when delivered as part of care in a community rehabilitation setting. The analysis of the Wolf Motor Function Test was also critiqued

Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases

Introduction/Aims: Aerobic deconditioning, due to lower levels of physical activity, could impact independence for people with neuromuscular conditions. We report the maximal cardiopulmonary response in a cohort of people with Charcot Marie Tooth disease type 1A (CMT 1A) and inclusion body myositis (IBM). We also explored potential predictors of aerobic capacity with measures of physical impairment and functional performance. Methods: Participants underwent maximal cardiopulmonary exercise testing (CPET) using a semi-recumbent cycle ergometer. Data were analyzed to determine the peak O2 consumption (VO2 peak), anaerobic threshold (AT), maximum heart rate (MHR), ventilatory equivalent for CO2 slope (VE/VCO2), and respiratory exchange ratio (RER). Impairment, functional and patient reported measures were also recorded. Predicted CPET variables were calculated based on published normative data for age, gender, and weight. Results: Twenty-two people with CMT and 17 people with IBM were recruited. Both groups showed significantly lower VO2 peak, MHR, AT, and VE/VCO2. The CMT group overall performed better than the IBM group, with significantly higher VO2 peak, MHR, and AT, but lower VE/VCO2. Linear regression analysis demonstrated that VO2 peak was related to body fat percentage and 6-min walk distance for both groups, and steps per day for the IBM group. Discussion: Lower than predicted CPET variables were observed that were not explained by cardiopulmonary limitations or reduced effort, implicating peripheral factors in limiting the cycling task. Regression analysis implied prediction of VO2 peak by body fat percentage and 6-min walk distance. Six-minute walk distance could be a potential proxy measure of cardiopulmonary fitness

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity

Objective: The aim of this phase 2 trial was to ascertain the feasibility and effect of community based aerobic exercise training for people with two of the more common neuromuscular diseases: Charcot-Marie-Tooth disease type 1A (CMT) and Inclusion Body Myositis (IBM). Methods: A randomised single blinded cross over trial design was used to compare a 12-week aerobic training programme using recombinant exercise bicycles compared to a control period. The training occurred three times per week in community gyms local to the participants. Support was available from trained gym staff and a research physiotherapist. The two disease groups were analysed separately. The primary outcome measure was peak oxygen uptake (VO2 peak) during a maximal exercise test, with secondary measures of muscle strength, function and patient reported measures. Results: Data from 23 people with CMT and 17 people with IBM was included in the analysis. Both disease groups had high levels of participation and demonstrated improvements in VO2 peak, with a moderate effect size in the CMT participants (Cohen’s d = 0.53) and a strong effect size in the IBM group (Cohen’s d = 1.72). No major changes were observed in the secondary outcome measures. Qualitative interviews revealed that participants valued the support of gym instructors and the research physiotherapists in overcoming challenges to participation. Conclusion: Twelve weeks of aerobic training in community gyms was feasible, safe and improved aerobic capacity in people with CMT and IBM. Classification of Evidence: This study provides Class II evidence that for patients with CMT type 1A and IBM, an aerobic training program increases aerobic capacity

The effects of prolonged wear of textured shoe insoles on gait, foot sensation and proprioception in people with Multiple Sclerosis: protocol for a randomised controlled trial

Background: Many people with multiple sclerosis experience problems with walking, which can make daily activities difficult and often leads to falls. Foot sensation plays an important role in keeping the body balanced whilst walking; however, people with multiple sclerosis often have poor sensation on the soles of their feet. Wearing a specially designed shoe insole, which enhances plantar sensory information, could help people with multiple sclerosis to walk better. This study will explore whether long-term wear of a textured insole can improve walking in people with multiple sclerosis

Neuromuscular disease genetics in under-represented populations: increasing data diversity

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses \u27solved\u27 or \u27possibly solved\u27 ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% \u27solved\u27 and ∼13% \u27possibly solved\u27 outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

Comparing gait performance of people with Charcot-Marie-Tooth disease who do and do not wear ankle foot orthoses

This pilot study aims to compare physical activity levels, recorded using the SenseWear activity monitor (SAM), in people with Charcot-Marie-Tooth (pwCMT) and healthy matched controls. Correlations between SAM activity levels, self reported activity levels and impairments were investigated. Twelve pwCMT and 12 healthy matched controls wore a SAM for the waking hours of 7 days. Primary comparisons of body mass index (BMI), calorie expenditure, energy expenditure (METs), time spent performing sedentary (<3 METs) and moderately vigorous (≥3 METs) activities were measured using the SAM in both groups, expressed as an individual’s mean day. Secondary measures included reported activity levels (Phone-FITT questionnaire) and fatigue severity (FSS questionnaire) plus disease severity using the CMT Examination Score (CMTES). Results: There were no significant group differences between calorie expenditure, energy expenditure, or time spent performing sedentary or moderate activities. Disease severity, self reported activity, and fatigue did not correlate with any of the SAM measures in pwCMT. No difference was seen in BMI (pwCMT mean BMI 25 ±3; Controls mean BMI 26 ±4), but both groups showed correlations between energy expenditure and BMI (pwCMT=0.61, P=0.035; Controls=0.61, P=0.031). PwCMT also showed a correlation between sedentary activity and BMI (0.64, P=0.027). Conclusion: These early results indicate that pwCMT have levels of physical activity comparable with healthy controls. This contrasts with previous literature that reported pwCMT as an underactive population. The SAM and self reported measures of physical activity did not correlate, perhaps because the Phone-FITT questionnaire doesn’t account for occupational activity. The correlation between BMI and activity variables raises general health and well being implications. A larger trial will be required to see if the between group differences in physical activity are significant with more subjects