Marco Meglio

The revised protocol merges the 6-month symptomatic and 18-month disease-modifying studies into a single trial with a 6-month symptomatic readout and a 12-month disease-modifying evaluation.

SGT-212 delivers full-length frataxin via MRI-guided intradentate nucleus infusion and intravenous administration to target mitochondrial dysfunction in neurons and cardiomyocytes, addressing both neurologic and cardiac symptoms.

The global Phase 3 trial aims to enroll ~150 patients with Dravet syndrome who have SCN1A variants, assessing zorevunersen's impact on seizure frequency, behavior, cognition, and safety over 60 weeks, with results expected by 2027.

Lekha Rao, MD, an epileptologist at UCLA Health, discussed the challenges in diagnosing D/EE-SWAS, the importance of early EEG, and the need for greater awareness around this rare and complex epileptic condition.

Despite not meeting its primary and key secondary end points, an exploratory high dose cohort of fosigotifator demonstrated promising results on end points of muscle strength.

Over a 24-week period, DNL343 failed to distinguish itself from placebo on the primary end point of ALSFRS-R, as well as on other secondary end points of muscle strength and respiratory function.

Babitha Haridas, MD, MBBS, a pediatric epileptologist at Johns Hopkins Medicine, discussed the complexities with managing status epilepticus in Lennox-Gastaut syndrome, focusing on the importance of identifying triggers early in their condition.

Most participants showed improvements in motor function, with 61% achieving a clinically meaningful increase in HFMSE scores by week 52 and 41% achieving similar gains in RULM scores.

The ACCORD-2 trial demonstrated a significant reduction in overall worsening compared to placebo, while the ADVANCE-2 trial showed numerically greater improvements without reaching statistical significance.

Ultimately, the biomarkers' temporal patterns may help differentiate attacks from remission, with sGFAP being particularly useful in distinguishing genuine attacks from pseudoattacks.

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 on vascular dementia.

David Lynch, MD, PhD, a professor of neurology at the University of Pennsylvania Perelman School of Medicine, discussed the significance of a number of recently presented analyses highlighting omaveloxlone, the first approved therapy for Friedreich ataxia.

Imlifidase-IVIg treatment led to faster disability improvement (3 weeks) and earlier independent walking (6 weeks) compared to IVIg alone.

Novartis plans to present OAV101 IT data at a 2025 medical meeting and share results with regulatory agencies, including the FDA, to support approval for patients with SMA in need.

Mind Moments®, a podcast from NeurologyLive®, brings you a review of 2024, with insights from Daniel Ontaneda, MD, PhD; Ian Kremer; Andy Berkowski, MD, PhD; Sameea Husain-Wilson, DO; Jonathan Parker, MD, PhD; and Lawrence Robinson, MD. [LISTEN TIME: 25 minutes]

The complement system is critical in immune defense and tissue homeostasis, but its dysregulation can contribute to autoimmune neurological disorders and neurodegenerative diseases like Alzheimer, ALS, and multiple sclerosis.

Vatiquinone, a small molecule inhibitor, demonstrated its efficacy and safety across a range of age groups with Friedreich ataxia, with effects seen on disease progression and specific subscales of the mFARS.

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 on CGRP medications to treat migraine.

Human studies revealed thinner myelin sheaths in CD59-deficient patients, indicative of a process of segmental demyelination followed by remyelination.

Managing ALS, particularly its respiratory complications, requires a collaborative multidisciplinary team—including neurologists, pulmonologists, and respiratory therapists—working together to address the complexities of respiratory failure, the leading cause of death in these patients.

Although the primary goal was not met, prasinezumab demonstrated encouraging effects on secondary and exploratory measures, such as time to worsening motor function, Clinical Global Impression of Change, MDS-UPDRS motor scores.

The assistant professor of neurosurgery and neuroscience at Mayo Clinic Arizona discussed an ongoing early-stage study assessing the therapeutic potential of NRTX-1001 nerve cell therapy in drug-resistant unilateral mesial temporal lobe epilepsy. [WATCH TIME: 5 minutes]

In the study, nearly 20% of patients with stable MS who discontinued their DMT had significant inflammatory disease activity compared with no participants who continued on with their treatment.

The proof-of-mechanism study will evaluate single doses of QRL-101 in approximately 12 patients with ALS, focusing on excitability biomarkers like the strength-duration time constant (SDTC), safety, tolerability, and plasma pharmacokinetics, with topline results expected in early 2025.

The cumulative incidence of dementia was higher in people with OSA, particularly for women, across different age groups.

The chief executive officer and cofounder of Amprion provided clinical insight on the novelty behind the company’s synuclein seed amplification assay and how it may better differentiate synucleinopathies diseases like MSA. [WATCH TIME: 8 minutes]

The chief medical officer at Stoke Therapeutics sat down at AES 2024 to discuss the promising data behind STK-001, an investigational antisense oligonucleotide in development for Dravet syndrome.

The positive data, along with data from GRAND CANYON anticipated in early 2025, are thought to be part of a potential future authorization submission for sevasemten in Becker.

Those on intermittent calorie restriction showed a notable improvement in the mental subscale of the MSIS Score and a significant reduction in cognitive and psychosocial fatigue.

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 on neurostimulation to treat epilepsy.