PREVENT ALL ALS Clinical Dataset

syn69694674

Created By Ram Ayyala ram.ayyala

title: PREVENT ALL ALS Dataset
cohort: Asymptomatic Genetic ALS At-Risk
funder: National Institutes of Health
source: ALL ALS
creator: Access for All in ALS (ALL ALS)
disease: ALS
hosting: synapse
species: Homo sapiens
subject: Amyotrophic lateral sclerosis--Prevention Neurodegenerative diseases--Genetic aspects Motor neuron diseases--Research
citation: doi:10.1002/mus.28244
dataType: clinical_assessment medical_history laboratory_results vital_signs neurological_assessment electrophysiology hand_held_dynamometry genetic_profile study_management
keywords: ALS prevention study neurological exam motor/cognitive screening muscle & grip strength handheld dynamometry vital capacity EMG/NCS ECAS MIR ALS gene variants (C9ORF72,SOD1,FUS,TARDBP) blood/serum/plasma CSF via LP longitudinal cohort
publisher: Sage Bionetworks
studyType: Clinical Trial
cohortType: At-Risk Natural-History
collection: all_als
repository: ALL ALS
contributor: Access for All in ALS (ALL ALS)
studyDesign: longitudinal
study_count: 1
cohort_count: 1
alternateName: PREVENT ALL ALS
curationLevel: tier2
portalRelease: 2026.2
visitSchedule: Screening; Visits 1, 1a, 2–7; LP eligibility visits; Genetic counseling appointments; Follow-up telephone visits; DHT sub-study visits; Early Termination
clinicalDomain: motor_function respiratory_function disease_progression symptom_onset genetic_testing biomarkers cognitive_assessment
diseaseSubtype: C9-ALS SOD1-ALS ANG-ALS ANXA11-ALS ARHGEF28-ALS ATXN2-ALS CFAP410-ALS CHCHD10-ALS CHMP2B-ALS DAO-ALS DCTN1-ALS ERBB4-ALS FIG4-ALS FUS-ALS HNRNPA1-ALS HNRNPA2B1-ALS KIF5A-ALS MATR3-ALS MOBP-ALS NEFH-ALS NEK1-ALS OPTN-ALS PFN1-ALS SETX-ALS SQSTM1-ALS TAF15-ALS TARDBP-ALS TBK1-ALS TUBA4A-ALS UBQLN2-ALS UNC13A-ALS VAPB-ALS VCP-ALS ALS2-ALS ELP3-ALS EPHA4-ALS EWSR1-ALS KIKAP3-ALS PRPH-ALS SPG4-ALS SPG11-ALS Other genetic ALS
primaryOutcome: Phenoconversion to ALS and rate of neurological decline in at-risk gene carriers
assessmentTypes: neurological_exam vital_signs laboratory electrophysiology dynamometry genetic_testing
participant_count: 483
acknowledgementStatement: syn64892175/wiki/633965

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