Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

TUBB4A pathogenic variants are associated with a spectrum of neurologic impairments including movement disorders and leukodystrophy. With the development of targeted therapies, there is an urgent unmet need for validated tools to measure mobility impairment. Our aim is to explore gross motor function in a pediatric-onset TUBB4A-related leukodystrophy cohort with existing gross motor outcome tools. Gross Motor Function Measure-88 (GMFM-88), Gross Motor Function Classification System (GMFCS-ER), and Gross Motor Function Classification-Metachromatic Leukodystrophy (GMFC-MLD) were selected through face validity. Subjects with a confirmed clinical and molecular diagnosis of TUBB4A-related leukodystrophy were enrolled. Participants' sex, age, genotype, and age at disease onset were collected, together with GMFM-88 and concurrent GMFCS-ER and GMFC-MLD. Performances on each measure were compared. GMFM-88 floor effect was defined as total score below 20%. A total of 35 subjects participated. Median performance by GMFM-88 was 16.24% (range 0-97.31), with 42.9% (n = 15) of individuals performing above the floor. GMFM-88 Dimension A (Lying and Rolling) was the best-performing dimension in the GMFM-88 (n = 29 above the floor). All levels of the Classification Scales were represented, with the exception of the GMFC-MLD level 0. Evaluation by GMFM-88 was strongly correlated with the Classification Scales (Spearman correlations: GMFCS-ER:GMFM-88 r = 0.90; GMFC-MLD:GMFM-88 r = 0.88; GMFCS-ER:GMFC-MLD: r = 0.92). Despite overall observation of a floor effect, the GMFM-88 is able to accurately capture the performance of individuals with attenuated phenotypes. GMFM-88 Dimension A shows no floor effect. GMFC-MLD shows a strong correlation with GMFCS-ER and GMFM-88, supporting its use as an age-independent functional score in TUBB4A-related leukodystrophy

Racial and ethnic diversity of US participants in clinical trials for acne, atopic dermatitis, and psoriasis: a comprehensive review

An increasing body of literature describes underreporting of race and ethnicity, and overrepresentation of White individuals in clinical trials. We aimed to evaluate the racial and ethnic diversity of US participants in clinical trials for acne, atopic dermatitis (AD), and psoriasis. We performed a comprehensive review of clinical trials for these common dermatologic diseases that were published between January 2014 and July 2019. Race and ethnicity reporting among all trials, and the racial and ethnic distribution of US participants were compared by skin disease, intervention type, and trial phase. In total, 103 articles representing 119 unique trials were evaluated. Race and ethnicity were reported in only 22.7% of trials. The proportion of White participants (77.5%) was higher than that of the US population (72.5%, p < .01); a finding largely driven by psoriasis trials (84.7% White). The proportions of non-White and Hispanic individuals in non-topical (21.0 and 16.3%, respectively) and Phase III (20.5 and 18.7%, respectively) trials were lower than those in topical (23.5 and 23.3%, respectively; p < .01) and Phase I/II trials (25.6 and 22.3%, respectively; p < .01). Race and ethnicity remain underreported in dermatologic clinical trials, and US trial participant diversity differs by skin disease, intervention type, and trial phase

Patient Factors Associated With Teledermatology Visit Type and Submission of Photographs During the COVID-19 Pandemic: Cross-sectional Analysis

BackgroundThe COVID-19 pandemic necessitated the widespread adoption of teledermatology, and this continues to account for a significant proportion of dermatology visits after clinics have reopened for in-person care. Delivery of high-quality teledermatology care requires adequate visualization of the patient’s skin, with photographs being preferred over live video for remote skin examination. It remains unknown which patients face the greatest barriers to participating in a teledermatology visit with photographs. ObjectiveThe aim of this study was to identify patient characteristics associated with type of telemedicine visit and the factors associated with participating in teledermatology visits with digital photographs versus those without photographs. MethodsWe performed a cross-sectional analysis of the University of Pennsylvania Health System electronic health record data for adult patients who participated in at least 1 teledermatology appointment between March 1, 2020, and June 30, 2020. The primary outcomes were participation in a live-interactive video visit versus a telephone visit and participation in any teledermatology visit with photographs versus one without photographs. Multivariable logistic regression was performed to evaluate the associations between patient characteristics and the primary outcomes. ResultsIn total, 5717 unique patients completed at least 1 teledermatology visit during the study period; 68.25% (n=3902) of patients participated in a video visit, and 31.75% (n=1815) participated in a telephone visit. A minority of patients (n=1815, 31.75%) submitted photographs for their video or telephone appointment. Patients who submitted photographs for their teledermatology visit were more likely to be White, have commercial insurance, and live in areas with higher income, better education, and greater access to a computer and high-speed internet (P75 years: odds ratio [OR] 0.60, 95% CI 0.44-0.82), male sex (OR 0.85, 95% CI 0.75-0.97), Black race (OR 0.79, 95% CI 0.65-0.96), and Medicaid insurance (OR 0.81, 95% CI 0.66-0.99) were each associated with lower odds of a patient submitting photographs for their video or telephone visit. Older age (age group >75 years: OR 0.37, 95% CI 0.27-0.50) and Black race (OR 0.82, 95% CI 0.68-0.98) were also associated with lower odds of a patient participating in a video visit versus telephone visit. ConclusionsPatients who were older, male, or Black, or who had Medicaid insurance were less likely to participate in teledermatology visits with photographs and may be particularly vulnerable to disparities in teledermatology care. Further research is necessary to identify the barriers to patients providing photographs for remote dermatology visits and to develop targeted interventions to facilitate equitable participation in teledermatology care