ArticleJournal of neurology, neurosurgery, and psychiatry2017
Defining SOD1 ALS natural history to guide therapeutic clinical trial design.
Article in Journal of neurology, neurosurgery, and psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00821132 (Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.), which is not on this map. Cited by 56 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.
Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- A systematic review and meta-analysis of the response to placebo in clinical trials of inclusion body myositis.Rheumatology (Oxford, England) · 2025Pooled it
- Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Journal of neurology · 2024Pooled it
- Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.BMC medicine · 2022Pooled it
- Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis.JAMA neurology · 2026Trial
- Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressiveNeurology · 2018Trial
- Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations.Annals of neurology · 2017Trial
- Optimizing Research Operations and Resource Utilization in ALS Care: Insights From the Tofersen Antisense Oligonucleotide Expanded Access Protocol.Muscle & nerve · 2026Article
- Drosophila: An Emerging New Approach Method (NAM) for Studying Amyotrophic Lateral Sclerosis (ALS).Cells · 2026Review
- SOD1 Variants in Patients With Amyotrophic Lateral Sclerosis in Central Eastern Europe: From Genetic Testing to SOD1 Targeted Therapy.European journal of neurology · 2026Article
- Decomposing heterogeneity in disease progression speeds and pathways.NPJ digital medicine · 2026Article
- A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.Communications biology · 2025Article
- Review
- Network analysis of the cerebrospinal fluid proteome reveals shared and unique differences between sporadic and familial forms of amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Article
- Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.Human mutation · 2025Article
- Updated Genetic Analysis of Japanese Familial ALS Patients CarryingNeurology. Genetics · 2024Article
- Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients withAnnals of medicine · 2024Article
- Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.Cell genomics · 2024Article
- Body mass index is lower in asymptomaticAmyotrophic lateral sclerosis & frontotemporal degeneration · 2024Article
- Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.Journal of neurology · 2024Article
- Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis.Nature reviews. Neurology · 2024Review
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Authors and funding
27 authors.
Funding
Abstract
importanceUnderstanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALS
objectiveTo establish an updated natural history of ALS DESIGN, SETTING AND
participantsRetrospective cohort study from 15 medical centres in North America evaluated records from 175 patients with ALS with genetically confirmed SOD1 mutations, cared for after the year 2000. MAIN OUTCOMES AND MEASURES: Age of onset, survival, ALS Functional Rating Scale (ALS-FRS) scores and respiratory function were analysed. Patients with the A4V (Ala-Val) SOD1 mutation (SOD1
resultsMean age of disease onset was 49.7±12.3 years (mean±SD) for all SOD1 patients, with no statistical significance between SOD1 CONCLUSIONS AND RELEVANCE: SOD1
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.