Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Tofersen treatment in SOD1 p.Leu145Phe ALS: real-world outcomes in a genetically homogeneous Croatian cohort.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2026

Bilić Hrvoje, Begović Marin, Sitaš Barbara, Hančević Mirea, Šepec Branimir Ivan, Zemba Čilić Andrea, Peček Vedrana, Gotovac Jerčić Kristina, Mateševac Josipa, Bahčić Tamara, Peček Laura, Borovečki Fran, Njirić Niko, Nemir Jakob, Petrović Marina, Jurjević Ivana, Klarica Marijan, Merćep Iveta, Bilić Ervina

Abstract excerpt

Background: Antisense oligonucleotide tofersen targets SOD1 mRNA and reduces production of misfolded SOD1 protein, with demonstrated biomarker and functional signals in clinical trials and open-label extensions. Real-world reports from genetically heterogeneous SOD1 ALS cohorts describe variable functional trajectories. Data from genetically homogeneous founder populations remain limited. We investigated clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Croatia

Share to Mutation

Share to Oligonucleotides, Antisense

Share to Superoxide Dismutase-1

Share to Treatment Outcome

Source

Identifiers

PMID: 41821425
DOI: 10.1080/21678421.2026.2638589

Genes

SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tofersen treatment in SOD1 p.Leu145Phe ALS: real-world outcomes in a genetically homogeneous Croatian cohort.PMID 41821425Read ↗

Tofersen: A Review in Amyotrophic Lateral Sclerosis Associated with SOD1 Mutations.Semantic proximity Read ↗

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALSSemantic proximity Read ↗

Tofersen in SOD1-associated amyotrophic lateral sclerosis: From molecular mechanisms to regulatory milestones.Semantic proximity Read ↗

Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.Semantic proximity Read ↗

Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study.Semantic proximity Read ↗

Tofersen decreases neurofilament levels supporting the pathogenesis of the SOD1 p.D91A variant in amyotrophic lateral sclerosis patientsSemantic proximity Read ↗

Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Semantic proximity Read ↗

Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALSSemantic proximity Read ↗

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.Semantic proximity Read ↗

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case reportSemantic proximity Read ↗

Recent Progress of Antisense Oligonucleotide Therapy for Superoxide Dismutase 1-mutated Amyotrophic Lateral Sclerosis: Focus on TofersenSemantic proximity Read ↗

Defining SOD1 ALS natural history to guide therapeutic clinical trial design.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.