[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100657950":3},{"organization":4,"outcomesModule":7,"designInfo":34,"detailedDescription":33,"studyPopulation":37,"armGroups":38,"interventions":33,"overallOfficials":33,"centralContacts":48,"locations":58,"responsibleParty":79,"collaborators":82,"id":86,"slug":87,"hasResults":88,"nctId":89,"briefTitle":90,"officialTitle":91,"acronym":33,"eligibilityCriteria":92,"healthyVolunteers":93,"sex":94,"minAge":95,"maxAge":33,"enrollmentInfo":96,"targetDuration":33,"studyType":99,"phases":33,"briefSummary":100,"conditions":101,"keywords":103,"overallStatus":61,"whyStopped":33,"lastUpdateSubmitDate":129,"lastUpdatePostDateStruct":130,"startDateStruct":133,"completionDateStruct":135,"leadSponsor":137,"locationsCount":138},{"fullName":5,"class":6},"Thomas Jefferson University","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":33},[9],{"measure":10,"description":11,"timeFrame":12},"Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction","A linear prediction risk score combining airway occlusion pressure at 0.1 seconds (P0.1) and chemosensitivity will be developed to distinguish symptomatic ALS participants with respiratory dysfunction from healthy controls. Diagnostic performance of the risk score will be evaluated using the area under the receiver operating characteristic curve (ROC-AUC), and an optimal cutoff will be determined. The resulting cutoff will subsequently be used to identify subclinical respiratory impairment in asymptomatic\u002Fpresymptomatic ALS gene carriers.","During the single study visit",[14,17,20,23,26,29],{"measure":15,"description":16,"timeFrame":12},"Fractional Anisotropy of the Brainstem and Cervical Spinal Cord","Fractional anisotropy (FA) will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. FA will be compared among healthy controls and asymptomatic\u002Fpresymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment.",{"measure":18,"description":19,"timeFrame":12},"Axial Diffusivity of the Brainstem and Cervical Spinal Cord","Axial diffusivity will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. Measurements will be compared among healthy controls and asymptomatic\u002Fpresymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment.",{"measure":21,"description":22,"timeFrame":12},"Radial Diffusivity of the Brainstem and Cervical Spinal Cord","Radial diffusivity will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. Measurements will be compared among healthy controls and asymptomatic\u002Fpresymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment.",{"measure":24,"description":25,"timeFrame":12},"Mean Diffusivity of the Brainstem and Cervical Spinal Cord","Mean diffusivity will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. Measurements will be compared among healthy controls and asymptomatic\u002Fpresymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment.",{"measure":27,"description":28,"timeFrame":12},"Plasma Neurofilament Light Chain (Nf-L) Level","Neurofilament light chain (Nf-L) levels in plasma will be measured as a blood-based marker of neurodegeneration. Plasma Nf-L levels will be compared among healthy controls and asymptomatic\u002Fpresymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment to determine whether respiratory impairment is associated with greater evidence of neurodegeneration.",{"measure":30,"description":31,"timeFrame":32},"Serum Neurofilament Light Chain (Nf-L) Level","Neurofilament light chain (Nf-L) levels in serum will be measured as a blood-based marker of neurodegeneration. Serum Nf-L levels will be evaluated in relation to automatic breathing impairment and compared across study groups as an additional blood-based biomarker of ALS-related neurodegeneration.","During the single study visit.",null,{"allocation":33,"interventionModel":33,"interventionModelDescription":33,"primaryPurpose":33,"observationalModel":35,"timePerspective":36,"maskingInfo":33},"COHORT","PROSPECTIVE","The study population will include adults with symptomatic ALS, asymptomatic or presymptomatic individuals with genetic variants associated with ALS, and healthy age- and sex-matched controls. Participants with ALS or genetic risk for ALS will be recruited from Thomas Jefferson University and other ALS patient inventories and referral sources.",[39,42,45],{"label":40,"type":33,"description":41,"interventionNames":33},"Symptomatic Amyotrophic Lateral Sclerosis","Participants with symptomatic amyotrophic lateral sclerosis (ALS), including familial or sporadic ALS, who have clinical evidence of disease. This group will undergo study assessments to characterize respiratory function and biomarkers associated with ALS.",{"label":43,"type":33,"description":44,"interventionNames":33},"Asymptomatic\u002FPresymptomatic ALS Gene Carriers","Participants who carry a genetic variant associated with amyotrophic lateral sclerosis but do not have clinical symptoms or functional deficits associated with ALS. This group will be evaluated for early or subclinical changes in respiratory function and other biomarkers associated with ALS.",{"label":46,"type":33,"description":47,"interventionNames":33},"Healthy Controls","Neurologically healthy participants without clinically identifiable neurological deficits who will serve as a comparison group for the study assessments.",[49,54],{"name":50,"role":51,"phone":52,"phoneExt":33,"email":53},"Jayakrishnan Nair, PhD, PT","CONTACT","352-871-5888","Jayakrishnan.Nair@jefferson.edu",{"name":55,"role":51,"phone":56,"phoneExt":33,"email":57},"Dana Johnson, DPT","215-326-9153","dana.johnson@jefferson.edu",[59],{"facility":60,"status":61,"city":62,"state":63,"zip":64,"country":65,"countryCode":66,"cosmosGeoPoint":67,"geoPoint":72,"contacts":73},"Thomas Jefferson University - Center City","RECRUITING","Philadelphia","Pennsylvania","19107","United States","US",{"type":68,"coordinates":69},"Point",[70,71],-75.16362,39.95238,{"lat":71,"lon":70},[74,76,77],{"name":55,"role":51,"phone":56,"phoneExt":33,"email":75},"Dana.Johnson@jefferson.edu",{"name":50,"role":51,"phone":52,"phoneExt":33,"email":53},{"name":50,"role":78,"phone":33,"phoneExt":33,"email":33},"PRINCIPAL_INVESTIGATOR",{"type":78,"investigatorFullName":80,"investigatorTitle":81,"investigatorAffiliation":5,"oldNameTitle":33,"oldOrganization":33},"Jayakrishnan Nair","Principal Investigator",[83],{"name":84,"class":85},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH","100657950","developing-new-ways-to-detect-respiratory-impairment-early-in-als-100657950",false,"NCT07844590","Developing New Ways to Detect Respiratory Impairment Early in ALS","Early Detection of Respiratory Impairments in ALS: A Novel Diagnostic Approach","Inclusion Criteria:\n\n* Symptomatic participants with ALS must have an ALS Functional Rating Scale-Revised (ALSFRS-R) score of 47\u002F48 or less at the time of recruitment.\n* Asymptomatic\u002Fpresymptomatic participants must have a pathogenic C9orf72 expansion of at least 25 repeats or a similar genetic abnormality known to be associated with ALS.\n* Healthy control participants must have no clinically identifiable neurological deficits based on medical history and screening. -\n\nExclusion Criteria:\n\n* Any safety concern or contraindication to MRI based on MRI safety screening.\n* Healthy control participants who do not pass the neurological screening.\n* Pregnancy.\n* Metal implants above the waist, including cardiac pacemakers or brain, neck, cervical, or thoracic implants.\n* Neurocognitive impairment.\n* Inability or unwillingness to provide informed consent.\n* Younger than 18 years of age.",true,"ALL","18 Years",{"count":97,"type":98},70,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to develop new ways to detect early changes associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The study will examine whether changes in breathing, magnetic resonance imaging (MRI) of the brainstem and spinal cord, and blood markers can identify early signs of ALS before major physical changes occur.\n\nThe main questions the study aims to answer are:\n\n* Can changes in automatic breathing help identify early ALS-related changes?\n* Can breathing measures distinguish people with ALS from people without ALS?\n* Do people with genetic risk for ALS who show changes in breathing also have changes in the brainstem and spinal cord or higher levels of blood markers associated with nerve damage?\n\nParticipants will complete breathing and muscle function tests, an MRI scan of the brainstem and spinal cord, and blood testing. The study will include people with ALS, people with genetic risk for ALS who do not yet have symptoms, and healthy adults for comparison.",[102],"Amyotrophic Lateral Sclerosis (ALS)",[104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128],"Amyotrophic lateral sclerosis","Early diagnosis","Respiratory function","Respiratory impairment","Respiratory biomarkers","Biomarkers","Neuroimaging","Magnetic resonance imaging","Brainstem","Spinal cord","Neurofilament light chain","Genetic risk","Presymptomatic amyotrophic lateral sclerosis","Motor neuron disease","Respiratory muscle function","Lou Gehrig's disease","automatic breathing","respiratory control","respiratory weakness","respiratory muscle strength","pulmonary function","respiratory drive","hypoxic","hypercapnic","Surface electromyography","2026-09-21",{"date":131,"type":132},"2026-09-28","ACTUAL",{"date":134,"type":98},"2026-09",{"date":136,"type":98},"2028-03-31",{"name":5,"class":6},1]