multiplex panel detects glial and inflammatory biomarker signatures in sporadic and c9orf72 als

Original title: “Multiplex Panel Detects Glial and Inflammatory Biomarker Signatures in Sporadic and C9orf72-ALS.”

In recognition of Rare Disease Day, the NeurologyLive® team offered an extensive update on the state of care and treatment for a wide range of rare neurological diseases, including Kleine-Levin syndrome, amyotrophic lateral sclerosis, cerebral palsy, Lennox-Gastaut syndrome, and more. Established by the European Organisation for Rare Diseases in an effort to raise awareness, the day has been celebrated globally since 2009, when the National Organization for Rare Disorders offered its hand in spreading the day to others, helping to get advocacy groups in the United States—and eventually around the world—to observe the day. The disease primarily affects boys, but in rare cases it can affect girls. In Europe and North America, the prevalence of DMD is approximately 6 per 100,000 individuals.19-21 · Patients with DMD and their clinicians do have a number of therapies available to them, though none yet are curative. Amyotrophic lateral sclerosis (ALS), commonly referred to as Lou Gehrig’s disease, is a progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord, leading to loss of muscle control.24 Experts have yet to identify the underlying cause of ALS, but the condition is inherited in roughly 10% of cases and begins with muscle twitching and weakness, and/or slurred speech. According to the Rare Disease Database, ALS affects 1.5 to 3 per 100,000 people per year in North America and Europe, with an estimated 5000 new diagnoses each year and approximately 30,000 patients currently affected in the US.25 Several clinical trials are ongoing in ALS, including a Compassionate Use Clinical Trial recently initiated by Zhittya Genesis Medicine to evaluate its proprietary FGF-1 biological drug with an intranasal delivery device.26 ZZ Biotech has a phase 2 trial (NCT05039258) underway to evaluate 3K3A-APC, a genetically engineered variant of human active protein C that previously saw success in acute ischemic stroke, and Amylyx Pharmaceuticals has begun patient dosing in the phase 3 PHOENIX study (NCT05021536) evaluating AMX0035, an investigational combination agent for patients with ALS.27,28 ... Pom

Original title: “Rare Disease Day: Updates on Rare Neurological Diseases | NeurologyLive - Clinical Neurology News and Neurology Expert Insights”

For Peter Pitts, a former associate commissioner at the FDA, the appointment to the board of BrainStorm Cell Therapeutics is an opportunity to fulfill a promise he made long ago to a patient with ALS.

Original title: “BrainStorm levels up, bringing on former FDA leader Peter Pitts for new ALS bid”

distinct unc13a haplotype blocks define disease severity and survival in chinese amyotrophic lateral sclerosis

Original title: “Distinct UNC13A Haplotype Blocks Define Disease Severity and Survival in Chinese Amyotrophic Lateral Sclerosis.”

neurosymptomatic hiv csf viral escape with parkinsonism and amyotrophic lateral sclerosis like syndrome a case report

Original title: “Neurosymptomatic HIV CSF viral escape with parkinsonism and amyotrophic lateral sclerosis-like syndrome: a case report.”

sod1 amyotrophic lateral sclerosis associated with neurosarcoidosis a case report and review of the literature

Original title: “SOD1 amyotrophic lateral sclerosis associated with Neurosarcoidosis: a case report and review of the literature.”

apoe 4 influences the widespread tdp 43 pathological subtype in sporadic amyotrophic lateral sclerosis

Original title: “APOE ε4 influences the widespread TDP-43 pathological subtype in sporadic amyotrophic lateral sclerosis.”

First quarter earnings continue to arrive, with analysts demanding more from cautious Pfizer and Eli Lilly expecting more revenue; the FDA taps Katherine Szarama as Vinay Prasad’s controversial FDA tenure ends; oncology veterans miss Richard Pazdur at the agency’s first adcomm in nine months; and QurAlis and Corcept Therapeutics spark renewed hope in ALS.

Original title: “Pfizer, Lilly, more report Q1, FDA names acting CBER director and an ALS awakening”

bridging the funding gap in drug development for amyotrophic lateral sclerosis

Original title: “Bridging the Funding Gap in Drug Development for Amyotrophic Lateral Sclerosis.”

Corcept Therapeutics’ ALS drug was linked to an 87% reduction in the risk of death, a result the biotech hopes to replicate in an upcoming Phase 3 trial.

Original title: “Corcept ties ALS drug to improved 2-year survival as Phase 3 start date nears”

development and characterization of 3d spinal cord organoids to advance the study of amyotrophic lateral sclerosis

Original title: “Development and characterization of 3D spinal cord organoids to advance the study of amyotrophic lateral sclerosis.”

somatic mosaicism in als and ftd identifies focal mutations associated with widespread degeneration

Original title: “Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.”

genetic epidemiology of c9orf72 repeat expansion associated amyotrophic lateral sclerosis in hungary

Original title: “Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary.”

Smaller gene-editing system could expand treatment options for cancer, ALS and other diseases.

Original title: “NIH-funded breakthrough shrinks CRISPR for precision delivery in the body”

accuracy of muscle ultrasonography in detecting fasciculations for the diagnosis of amyotrophic lateral sclerosis a systematic review and meta analysis

Original title: “Accuracy of muscle ultrasonography in detecting fasciculations for the diagnosis of amyotrophic lateral sclerosis: a systematic review and meta-analysis.”

Trace Neuroscience, a member of BioSpace’s NextGen Class of 2026, has learned from the success of Biogen’s Qalsody and aims to bring more treatment options to the ALS community.

Original title: “Trace Unites ALS Teams Behind a Target That Could Broaden Treatment Access”

aberrant sod1 aggregates in skeletal muscle target fibers in amyotrophic lateral sclerosis

Original title: “Aberrant SOD1 aggregates in skeletal muscle target fibers in amyotrophic lateral sclerosis.”

As Congress debates renewing the Act for ALS, it must prepare for the coming era of precision ALS medicine by prioritizing early-stage research to more quickly bring effective treatments to the market.

Original title: “Opinion: The Barrier to ALS Precision Drugs Isn’t Science. It’s the ‘Valley of Death’”

a rough and swirling sea voicing amyotrophic lateral sclerosis through discourse analysis

Original title: “"A rough and swirling sea": Voicing Amyotrophic Lateral Sclerosis through discourse analysis.”

exploring the lived experiences of individuals with amyotrophic lateral sclerosis als a qualitative study and conceptual model of signs symptoms and functional impacts

Original title: “Exploring the Lived Experiences of Individuals with Amyotrophic Lateral Sclerosis (ALS): A Qualitative Study and Conceptual Model of Signs, Symptoms, and Functional Impacts.”