Neuromuscular

In honor of Rare Disease Day, the vice president of public policy and advocacy at the Muscular Dystrophy Association shared his perspective of advocacy and policy progress in the realm of rare neuromuscular diseases. [WATCH TIME: 6 minutes]

Caroline Just, MD, reflects on the challenges of diagnosing and treating rare neurological diseases, urging for improved education, collaboration, and research efforts.

A recent study showed that the 2021 European guidelines for chronic inflammatory demyelinating polyradiculoneuropathy provided a clearer definition of variants for the disease.

ATH-1105 protected various cell culture systems from glutamate-mediated toxicity and its pathological alterations, which include mitochondrial dysfunction, apoptotic signaling, and TDP-43 mis-localization, among others.

The antisense oligonucleotide will continue to be assessed in a large-scale phase 3 study, CARDIO-TTRansform, which will have data read out in 2025.

Here's some of what is coming soon to NeurologyLive® this week.

Repetitive transcranial magnetic stimulation, a more widely used symptomatic treatment, was able to improve several outcomes for patients with cerebellar ataxia, especially at high frequencies.

Test your neurology knowledge with NeurologyLive®'s weekly quiz series, featuring questions on a variety of clinical and historical neurology topics. This week's topic is sleep disorders and hypersomnias.

PepGen has begun its phase 2 CONNECT1-EDO51 trial, dosing the first patient with PGN-EDO51, an agent for Duchenne muscular dystrophy amendable to an exon 51 skipping.

Neurology News Network for the week ending February 24, 2024. [WATCH TIME: 3 minutes]

Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending February 23, 2024.

The professor in the Department of Translational Neuroscience at Barrow Neurological Institute provided perspective on the approval of tofersen (Qalsody; Biogen) for patients with ALS and the ways neurofilament light will be used going forward. [WATCH TIME: 3 minutes]

A recent phase 3 trial demonstrated that N-acetyl-l-leucine significantly improved symptoms in patients with Niemann-Pick disease type C, showing promise as a potential treatment.

A recent observational study detected anti-DLAT antibodies in the serum of patients with chronic inflammatory demyelinating polyneuropathy with a sensory-dominant phenotype.

After a positive phase 1 study, DNL788, an RIPK1 inhibitor, failed to distinguish itself from placebo in HIMALAYA.

The associate professor of neurology at Columbia University talked about a track session that he will be chairing at the upcoming MDA conference on amyotrophic lateral sclerosis genetic research. [WATCH TIME: 5 minutes]

The professor in the Department of Translational Neuroscience at Barrow Neurological Institute discussed several topics related to ALS research and the emerging biomarkers in recent years ahead of the 2024 MDA Clinical and Scientific Conference.

A recent review of studies indicated that intravenous immunoglobulin could be as effective as other treatments in improving disability for patients with chronic inflammatory demyelinating polyradiculoneuropathy.

IVIg and SCIg exhibit differing effects on cytokine profiles in CIDP, potentially due to their distinct pharmacokinetics.

The professor in the Department of Translational Neuroscience at Barrow Neurological Institute provided comments on her session track at the upcoming 2024 MDA conference and some of the recent advancements in ALS research. [WATCH TIME: 4 minutes]

Here's some of what is coming soon to NeurologyLive® this week.

Test your neurology knowledge with NeurologyLive®'s weekly quiz series, featuring questions on a variety of clinical and historical neurology topics. This week's topic is multiple sclerosis.

Neurology News Network for the week ending February 17, 2024. [WATCH TIME: 3 minutes]

Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending February 16, 2024.

The FDA has accepted Sarepta Therapeutics' efficacy supplement for gene therapy SRP-9001, granting it a priority review for the treatment of Duchenne muscular dystrophy, with a decision expected by June 21, 2024.

Experts from different subspecialties in neurology shared their clinical perspectives for patients on promising therapeutics and expansion of care interventions for 2024.

The efficacy of vamorolone at a dose of 6 mg/kg/d was maintained over 48 weeks of treatment for all 5 motor outcomes.

Omaveloxolone is an oral, once-daily medication indicated for the treatment of Friedreich’s ataxia in adults and adolescents aged 16 years and older in both the United States and the European Union.

The postdoctoral research fellow at Brigham and Women’s Hospital and Harvard Medical School discussed some of the issues with ensuring timely care access to approved therapies for patients with Duchenne muscular dystrophy. [WATCH TIME: 3 minutes]

Ahead of the 2024 MDA Conference, the medical advisor and care center director at Muscular Dystrophy Association talked about the track sessions he will be cochairing at the meeting. [WATCH TIME: 5 minutes]