Victoria Johnson, Assistant Editor for GeneTherapyLive, joined the MJH Life Sciences team in October 2020, originally writing for NeurologyLive. Follow her on Twitter @VictoriaJNeuro or email her at vjohnson@genetherapylive.com.
AT-GAA More Efficacious than Alglucosidase Alfa in Late-Onset Pompe Disease
Researchers observed improvements in motor and respiratory function and biomarkers in the investigational treatment group.
Vamorolone for Duchenne Muscular Dystrophy Shows Better Safety Profile Than Other Corticosteroids
The VBP-LTE study found no evidence of slowed linear growth, insulin resistance, or osteocalcin decreases.
Anti-Amyloid Beta Vaccine for Down Syndrome-Related Alzheimer Disease Advances in Clinical Testing
AC Immune SA is also developing an optimized formulation being tested in mice and non-human primates.
Risdiplam Effective in Sustained Motor Function Improvement in SMA Types 2 and 3
Two-year data from the SUNFISH study were presented at the MDA 2021 Clinical and Scientific Conference.
Endovascular Thrombectomy Benefits Observed 6 to 24 Hours Since Last Known Well
The AURORA collaboration studied pooled study data from 6 randomized studies of ET in ischemic stroke.
Switch to Deflazacort Improves Disease Progression in Patients With Dystrophinopathies
Researchers conducted a real-world study of prednisone to deflazacort switch in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.
Plasma NfL Levels Predict NEDA-BVL Status as an MS Biomarker
Researchers from Pavol Jozef Šafárik University, Košice, Slovakia, found that plasma neurofilament light levels predict no evidence of disease activity status as well as NEDA plus brain volume loss status.
Structured Nutritional Support Pathway Using PRESS Increases Efficiency in GT Placement, Discharge
Researchers used predictive swallowing score to help guide decision making in gastric tube placement.
Direct Transfer to Angio Suite Reduces Likelihood of Severe Disability Post Stroke
Researchers also found that compared to direct to CT patients, DTAS patients has lower onset-to-reperfusion and door-to-groin times.
Physical Activity a Useful End Point for Charcot-Marie-Tooth Disease Trials
Researchers found that physical activity as measured by wearable devices was significantly associated with in-person measures of strength and function in patients with CMT.
Anti-CD20 Therapy for MS Increases Risk of Severe COVID-19
Age, sex, EDSS score, and recent methylprednisolone use were all identified as risk factors for developing severe COVID-19.
Risdiplam Shows Favorable Safety Profile Across SMA Types
Researchers conducted a pooled safety analysis of the FIREFISH, SUNFISH, and JEWELFISH studies.
The Importance of Identifying Those at Risk of Falling in MS
Ishu Arpan, PhD, senior research associate at Oregon Health & Science University, also discussed further studies she would like to see conducted in MS falls.
Zolgensma Shows Safety and Durability of Efficacy in Long-Term Follow-Ups for SMA Type 1
LT-001 and LT-002 followed up patients treated with onasemnogene abeparvovec from the START, STRONG, STR1VE, and STR1VE-EU studies.
Ataluren Delays Loss of Ambulation in Patients With Nonsense Mutation DMD
Researchers also found that, in comparing ataluren to standard care, ataluren delayed loss in pulmonary function.
Early Plasma GFAP Lowering Predicts Reduced Disability Worsening Risk in Progressive MS
In assessing patients treated with siponimod, researchers also saw that plasma neurofilament light levels slightly predicted a reduced risk of disease worsening.
ASMs Have Varied Effects on Polysomnography Sleep Parameters
Researchers from Kaohsiung Medical University performed a meta-analysis of 18 RCTs to investigate associations between ASMs and sleep parameters.
Teleneurology to Support Death by Neurologic Criteria Exams Feasible
Researchers found that the proportion of patients meeting DNC criteria suitable for organ donation increased after teleneurology use.
Low GCIPL Thickness Associated With MS Disability Worsening
Researchers found that GCIPL thickness, along with disease duration of at least 9 years at baseline, were associated with the highest odds of EDSS worsening.
Older Patients With MS Face Additional Risks With Ocrelizumab Treatment
The retrospective analysis in patients aged 55 years and older underlines the importance of testing different patient populations.
General Practitioners Accurately Prescreen Sleep Apnea via Sleep Symptom Checklist
Researchers found that sleep disorder-related symptoms were positively correlated with polysomnography indices.
African American Patients Have Higher MS Disability Scores Than Hispanic, Caucasian Patients
Researchers found that, in an exploratory analysis of 150 patients, African American patients with MS were most likely to become disabled and lose employment.
Identifying Those at Risk of Falling in Multiple Sclerosis
Ishu Arpan, PhD, senior research associate at Oregon Health & Science University, discussed her team’s investigations into identifying patients with MS at risk of falling.
Multiple Sclerosis Care Professionals Satisfied With Clinical Video Telemedicine Visits
Researchers found that the percentage of telemedicine visits increased from 15% to 72.8% during the COVID-19 pandemic.
Mechanical Thrombectomy Efficacious in Distal Medium Vessel Occlusion
Researchers found that higher NIHSS scores on admission and a successful first-pass effect were predictors of reaching early neurological improvement.
African American Patients With MS Switch to Ocrelizumab Treatment Earlier than Caucasian Patients
Researchers also found that patients with progressive MS had longer disease duration before starting DMTs than those with relapsing MS.
Human Oligodendrocyte Differences Due to Environmental Signals Rather Than Lineage
Researchers used single-cell RNA sequencing on adult, pediatric, and infant surgical tissues to study oligodendrocyte types in order to better understand multiple sclerosis.
Risdiplam Efficacious in Infants with Spinal Muscular Atrophy Type 1
The FIREFISH clinical trial by PTC Therapeutics is 1 of several studies underway evaluating risdiplam in SMA.
IL-1RA Biomarker Predicts Disability in Multiple Sclerosis
The researchers found that interleukin-1 receptor antagonist levels in plasma correlated with neurofilament light levels in cerebrospinal fluid.
Cladribine Personalized Dosing Well Tolerated and Efficacious in Multiple Sclerosis
Researchers found that 22 of 23 patients with elevated CSF NfL at baseline had normal levels at 2-year follow-up.