Neuromuscular

The NeurologyLive neuromuscular disease clinical focus page offers updates and information related to the clinical care and management of individuals with neuromuscular diseases such as amyotrophic lateral sclerosis, Duchenne muscular dystrophy, cerebral palsy, and spinal muscular atrophy, as well as rare diseases. This page consists of news, podcasts, and videos about the latest FDA actions, clinical guideline updates, interviews with physicians, study and clinical trial findings, and more.

This Week on NeurologyLive — March 8, 2020

March 08, 2021

Article

Here's what is coming soon to NeurologyLive.

AXO-AAV-GM2 Administered to First Patient in GM2 Gangliosidosis Trial

March 07, 2021

Article

The 2-stage study is an open-label, 2-stage clinical trial designed to evaluate safety and dose-escalation (stage 1) and safety and efficacy (stage 2) of surgically delivered AXO-AAV-GM2.

NeurologyLive Friday 5 — March 5, 2021

March 05, 2021

Article

Take 5 minutes to catch up on NeurologyLive's highlights from the week ending March 5, 2021.

The Economic Burden of SMA Prior to Treatment Approvals: Lisa Belter, MPH

March 04, 2021

Video

The director of research analytics at Cure SMA discussed her research on the economic burden and costs patients with spinal muscular atrophy and their caregivers face.

Pegunigalsidase Alfa Demonstrates Efficacy in Phase 3 Fabry Disease Study

March 03, 2021

Article

Protalix BioTherapeutics intends to report final data on the agent, also known as PRX-102 in the second half of 2021, as well as present those findings at an appropriate medical conference.

Risdiplam Efficacious in Infants with Spinal Muscular Atrophy Type 1

March 02, 2021

Article

The FIREFISH clinical trial by PTC Therapeutics is 1 of several studies underway evaluating risdiplam in SMA.

FDA Provides Feedback on NurOwn ALS Therapy, Requests More Data

March 02, 2021

Article

The recommendation stems from recently published topline data which demonstrated a clinically meaningful treatment response compared to placebo but failed to meet statistical significance.

This Week on NeurologyLive — March 1, 2020

March 01, 2021

Article

Here's what is coming soon to NeurologyLive.

NeurologyLive Friday 5 — February 26, 2021

February 26, 2021

Article

Take 5 minutes to catch up on NeurologyLive's highlights from the week ending February 26, 2021.

Sarepta’s Casimersen Approved for DMD Amenable to Exon 45 Skipping

February 25, 2021

Article

The antisense oligonucleotide casimersen will be branded as Amondys 45 and is currently being assessed in the ESSENCE phase 3 clinical trial (NCT02500381).

Tapping Into the Potential of Cell and Gene Therapy

February 25, 2021

Article

Advancements in gene therapy approaches have opened the door for a glimpse into the future of care for a number of diseases.

The Variability of Cerebral Palsy Care: Bhooma Aravamuthan, MD, DPhil

February 23, 2021

Video

The assistant professor of pediatric neurology at the Washington University in St. Louis spoke to the insights of a recent survey she and colleagues conducted.

Genetic Variants Impact on ALS Clinical Trials: James Berry, MD, MPH

February 22, 2021

Video

The director of the Massachusetts General Hospital ALS Care Center detailed the role genetic backgrounds can have on outcomes within ALS clinical trials.

This Week on NeurologyLive — February 22, 2020

February 22, 2021

Article

Here's what is coming soon to NeurologyLive.

Tackling Quality of Life Issues in ALS: James Berry, MD, MPH

February 20, 2021

Video

The director of the Massachusetts General Hospital ALS Care Center discussed some of the biggest challenges for patients with ALS and what should be prioritized in research.

NeurologyLive Friday 5 — February 19, 2021

February 19, 2021

Article

Take 5 minutes to catch up on NeurologyLive's highlights from the week ending February 19, 2021.

Screening for ALS Mutations Can Positively Impact Clinical Care

February 19, 2021

Article

Overall, variants within known ALS-linked genes are of potential clinical importance for 42% of patients, according to the study authors.

Sonja W. Scholz, MD, PhD, on Advancing Genomics Against Complex, Polygenic Neurodegenerative Disorders

February 18, 2021

Article

Scholz was recognized for her application of advanced genetic techniques to the study of neurodegenerative disorders, including dementia with Lewy bodies, multiple system atrophy, frontotemporal dementia, progressive supranuclear palsy, and corticobasal degeneration.

Pamrevlumab, Vamorolone, and Others Headline Robust Pipeline in Duchenne Muscular Dystrophy

February 17, 2021

Article

The DMD treatment pipeline boasts a number of therapeutics with varying mechanisms of action and delivery systems, pointing to a promising future for treatment.

Previously Unrecognized Dystonia is a Prevalent Clinical Feature of Angelman Syndrome

February 15, 2021

Article

Researchers found that 93% of patients with AS exhibited dystonia in their limbs, mouth, neck, or trunk.