Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study.

INTRODUCTION/AIMS: People with Charcot-Marie-Tooth Disease (CMT) frequently report problems with balance, which lead to an increased risk of falls. Evidence is emerging of training interventions to improve balance for people with CMT, but to date all have relied on clinic-based treatment and equipment. This proof-of-concept study explored whether a multi-modal program of proprioceptive rehabilitation and strength training can be delivered at home, to improve balance performance in people with CMT Type 1A. METHODS: Fourteen participants with CMT Type 1A were recruited into this randomized, two-arm study. Baseline assessments included measures of disease severity, posturography, physical function, and patient-reported outcome measurements. All participants received one falls education session. Participants were randomized to either 12 weeks of balance training or 12 weeks of usual activities. The intervention comprised a home-based, multi-sensory balance training and proximal strengthening program, supported by three home visits from a physiotherapist. RESULTS: Thirteen participants completed the study. The intervention was successfully implemented and well tolerated, with high participation levels. Functional measures of balance and walking showed strong effect sizes in favor of the training group. Posturography testing demonstrated moderate improvements in postural stability favoring the intervention group. Inconsistent changes were seen in lower limb strength measures. DISCUSSION: The intervention was feasible to implement and safe, with some evidence of improvement in balance performance. This supports future studies to expand this intervention to larger trials of pragmatic, home-delivered programs through current community rehabilitation services and supported self-management pathways.

Capturing learning from public involvement with people experiencing homelessness to help shape new physiotherapy research: Utilizing a reflective model with an under-served, vulnerable population.

INTRODUCTION: People experiencing homelessness (PEH) have poorer health than housed people but face barriers accessing care and being involved in research. As an often-ignored group, their contribution to help shape research that is for and about them is essential, as it can strengthen the research proposal, in turn facilitating research and outcomes that are relevant to this vulnerable group. METHODS: Six people with experience of homelessness attended a PPI consultation aided by Pathway, a UK homeless peer advocacy charity, which coordinates an 'Experts by Experience' group. We present reflections on conducting PPI with PEH that informed the development of a physiotherapy research proposal. Kolb's Experiential Learning Cycle guided reflections across four stages: (1) describing the PPI experience; (2) reviewing and reflecting on the PPI experience; (3) learning from the PPI experience; and (4) planning and trying out learning. RESULTS: Reflections highlighted the importance of: working closely with an advocacy organisation and leader to reach under-served people; the diversity of experiences; using familiar venues, contingency and budget planning; flexibility and 'allowing time; talking less; listening more'; planning for early and ongoing PPI, and the potential of mobile 'one-off' PPI outreach models to reach vulnerable groups. CONCLUSION: Kolb's Experiential Learning Cycle aided team reflection on feedback from PEH, which helped refine and strengthen a physiotherapy research proposal. The project was unfunded. However, a reflective model helped maximize learning and impact including for future PPI and research. The novel application of Kolb's Experiential Learning Cycle provided structure, facilitated reflection and enhanced individual and collective learning and may benefit capturing learning from PPI with other vulnerable populations. PATIENT OR PUBLIC CONTRIBUTION: We highlight how a PPI consultation with people with experience of homelessness helped shape a funding proposal. Additionally, the reflections of the experts by experience team leader are included.

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

OBJECTIVE: Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort across 6 years. METHODS: Twenty-three participants with LGMD R9, previously assessed over a 1-year period, were re-enrolled at 6 years. Standardized functional assessments were performed including: myometry, timed tests, and spirometry testing. Quantitative MRI was used to measure fat fraction in lower limb skeletal muscle groups. RESULTS: At 6 years, all 14 muscle groups assessed demonstrated significant increases in fat fraction, compared to eight groups in the 1-year follow-up study. In direct contrast to the 1-year follow-up, the 6-min walk test, 10-m walk or run, timed up and go, stair ascend, stair descend and chair rise demonstrated significant decline. Among the functional tests, only FVC significantly declined over both the 1- and 6-year studies. INTERPRETATION: These results further support fat fraction measurements as a primary outcome measure alongside functional assessments. The most appropriate individual muscles are the vastus lateralis, gracilis, sartorius, and gastrocnemii. Using composite groups of lower leg muscles, thigh muscles, or triceps surae, yielded high standardized response means (SRMs). Over 6 years, quantitative fat fraction assessment demonstrated higher SRM values than seen in functional tests suggesting greater responsiveness to disease progression.