Randomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysis.

INTRODUCTION: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease characterized by increasingly worsening ataxia and non-ataxia features, negatively impacting patients' quality of life. This study was designed to test formally evaluate whether oral trehalose was effective in SCA3 patients. METHODS: In this double-blind, randomized controlled trial, SCA3 patients received either 100 g oral trehalose or 30 g maltose to improve ataxia severity over six months. We also measured other clinical (non-ataxia), patient-reported (quality of life, motivations), and safety endpoints. An unscheduled interim analysis was conducted using two-way ANOVAs to analyze the interaction between time (baseline, 3-months, 6-months) and intervention (Trehalose vs. Placebo). RESULTS: Fifteen participants (Trehalose = 7 vs. Placebo = 8) completed the study at the time of interim analysis. There was no interaction effect on the ataxia severity, and available data suggested an estimated sample size of 132 (66 per arm) SCA3 patients required to demonstrate changes in a 6-month trial. There were significant interaction effects for executive function (ƞ2 = 0.28-0.43). Safety data indicated that 100 g oral trehalose was well-tolerated. CONCLUSION: We performed an unplanned interim analysis due to a slow recruitment rate. The new estimated sample size was deemed unfeasible, leading to premature termination of the clinical trial. In this small, current sample of SCA3 patients, 100 g oral trehalose did not differentially impact on ataxia severity compared to placebo. Interestingly, our findings may suggest an improvement in executive function. Future efforts will require a large multi-country, multi-center study to investigate the potential effect of trehalose.

Prevalence and predictors of vitamin D deficiency among adults with epilepsy: A cross-sectional study.

BACKGROUND: Vitamin D deficiency among adult people with epilepsy (PWE) is scarcely studied, despite its essential role in bone health and maintaining homeostasis. Several studies have studied the relationship between factors related to epilepsy and vitamin D metabolism. We aim to investigate this in our multi-ethnic society. METHODS: This was a single-center cross-sectional study. We recruited 159 participants diagnosed with epilepsy on antiseizure medications (ASMs). We included those aged 18 years and above, excluding patients with long-term medical conditions that would affect vitamin D metabolism. Sociodemographic data and details of epilepsy were collated. Venous sampling was performed to analyze the levels of albumin-corrected calcium, phosphate, alkaline phosphatase, and 25-hydroxyvitamin D3 [25(OH)D]. Serum 25(OH)D level is defined as deficient (<20 ng/ml), insufficient (20-29 ng/ml), and sufficient (≥30 ng/ml). RESULTS: The study reported that 73 (45.9%) participants had vitamin D deficiency, 38 (23.9%) had vitamin D insufficiency, and 48 (30.2%) patients had sufficient vitamin D levels. The predictors identified were PWE aged 18 to 44 years old (p = 0.001), female gender (OR 3.396, p = 0.002), and ethnicity (p < 0.001), specifically Malay and Chinese. However, no significant association was identified between types of ASMs, serum calcium, or the prevalence of vitamin D deficiency. CONCLUSION: Vitamin D deficiency among PWE is prevalent in our local population, suggesting that regular screening should be considered for those at risk. Early identification would allow intervention to reduce the risk of future complications.

Automated Gait Analysis Based on a Marker-Free Pose Estimation Model.

Gait analysis is an essential tool for detecting biomechanical irregularities, designing personalized rehabilitation plans, and enhancing athletic performance. Currently, gait assessment depends on either visual observation, which lacks consistency between raters and requires clinical expertise, or instrumented evaluation, which is costly, invasive, time-consuming, and requires specialized equipment and trained personnel. Markerless gait analysis using 2D pose estimation techniques has emerged as a potential solution, but it still requires significant computational resources and human involvement, making it challenging to use. This research proposes an automated method for temporal gait analysis that employs the MediaPipe Pose, a low-computational-resource pose estimation model. The study validated this approach against the Vicon motion capture system to evaluate its reliability. The findings reveal that this approach demonstrates good (ICC(2,1) > 0.75) to excellent (ICC(2,1) > 0.90) agreement in all temporal gait parameters except for double support time (right leg switched to left leg) and swing time (right), which only exhibit a moderate (ICC(2,1) > 0.50) agreement. Additionally, this approach produces temporal gait parameters with low mean absolute error. It will be useful in monitoring changes in gait and evaluating the effectiveness of interventions such as rehabilitation or training programs in the community.