[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT03225144":3,"trial-entities:NCT03225144":99,"trial-summary:NCT03225144":108},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":21,"study_type":26,"primary_purpose":14,"phases":27,"enrollment_info":28,"interventions":31,"primary_outcomes":32,"secondary_outcomes":37,"sex":38,"minimum_age":39,"maximum_age":40,"healthy_volunteers":41,"eligibility_criteria":42,"std_ages":55,"locations":58,"central_contacts":75,"overall_officials":84,"references":87,"see_also_links":95},"NCT03225144","170131","Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia","RECRUITING","2027-10-30","2026-08-11","2026-08-13","2017-10-11","National Institute of Neurological Disorders and Stroke (NINDS)","NIH",null,"Background:\n\nNeurodegenerative disorders can lead to problems in movement or memory. Some can cause abnormal proteins to build up in brain cells. Researchers want to understand whether these diseases have related causes or risk factors.\n\nObjective:\n\nTo test people with movement or thinking and memory problems to see if they are eligible for research studies.\n\nEligibility:\n\nPeople ages 18 and older with a neurodegenerative disorder associated with accumulation of TDP-43 or Tau proteins\n\nDesign:\n\nParticipants will have a screening visit. This may take place over 2-3 days. Tests include:\n\nMedical history\n\nPhysical exam\n\nQuestions about behavior and mood\n\nTests of memory, attention, concentration, and thinking\n\nMovement measurement. The speed at which participants can stand up from a chair, tap their finger and foot, and walk a short distance will be measured. Some movements will be videotaped. They will be videotaped while they speak and read a paragraph.\n\nBlood tests. This might include genetic testing.\n\nLung and breathing tests\n\nMRI. They will lie on a table that slides into a cylinder that takes pictures of the body. Some participants will get a dye through IV.\n\nElectromyography. A thin needle will be inserted into the muscles to measure electrical signals.\n\nNerve tests. Small electrodes on the skin record muscle and nerve activity.\n\nA small piece of skin may be removed.\n\nA skin or blood sample may be taken to create stem cells.\n\nOptional lumbar puncture. A needle will be inserted into the space between the bones of the back to collect fluid.\n\nIf participants are not eligible for current studies, they may be contacted in the future.","Objectives\n\nThe primary objective is to evaluate patients referred with a diagnosis of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or related adult-onset neurodegenerative disorders to assess patient eligibility for ongoing protocols. The secondary objective is to develop and maintain a registry of characterized patients and presymptopmatic carriers of gene mutations that cause ALS-FTD spectrum disorders. The exploratory objectives are to obtain biospecimens from clinically characterized patients to carry out laboratory-based studies aimed at understanding the molecular pathways and genetic overlap between these neurodegenerative disorders and to perform 7 tesla magnetic resonance imaging studies to identify imaging biomarkers of neurodegeneration.\n\nStudy population\n\nAdults referred with clinical diagnoses of frontotemporal dementia, motor neuron disorder, or related adult-onset neurodegenerative disorder. Presymptomatic carriers of genes known to cause familial FTD or ALS\n\nDesign\n\nAll participants will undergo clinical tests to confirm diagnoses and to stage disease severity, including a standard battery of tests to measure cognitive and motor functions. Participants may opt-in for research procedures such as phlebotomy, skin biopsy, leukapheresis, and lumbar puncture to obtain biospecimens for laboratory research, and magnetic resonance imaging or transcranial magnetic stimulation may be used to explore biomarkers of disease.\n\nOutcome measures\n\nClinical information will be analyzed as part of our research to identify common features and differences among participants.",[18,19,20],"Frontotemporal Dementia","Amyotrophic Lateral Sclerosis","Progressive Supranuclear Palsy",[22,20,23,18,24,25],"TDP-43","Motor Neuron Disease","Corticobasal Syndrome","Natural History","OBSERVATIONAL",[],{"count":29,"type":30},360,"ESTIMATED",[],[33],{"measure":34,"description":35,"timeFrame":36},"Clinical information","Clinical information will be analyzed as part of our research to identify common features and differences among participants.","10\u002F30\u002F2027",[],"ALL","18 Years","110 Years",false,{"inclusion":43,"exclusion":47,"raw_text":54},[44,45,46],"Are age 18 or older","Have been given a diagnosis by a neurologist of frontotemporal dementia, primary progressive aphasia, semantic dementia, motor neuron disorder, amyotrophic lateral sclerosis, progressive bulbar palsy, corticobasal syndrome, Huntington disease or other related adult-onset neurodegenerative disorder OR","Carry a mutation in a gene that causes familial ALS or FTD",[48,49,50,51,52,53],"Have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.","Have an unstable medical condition that, in the opinion of the investigators, makes participation unsafe","Require daytime ventilator support at the time of study entry","Are unable to travel to NIH","Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging.","Patients with tattoos above the neck or permanent make up will be excluded from undergoing 7T MRI.","* INCLUSION CRITERIA:\n\nPatients will be included if they\n\n* Are age 18 or older\n* Have been given a diagnosis by a neurologist of frontotemporal dementia, primary progressive aphasia, semantic dementia, motor neuron disorder, amyotrophic lateral sclerosis, progressive bulbar palsy, corticobasal syndrome, Huntington disease or other related adult-onset neurodegenerative disorder OR\n* Carry a mutation in a gene that causes familial ALS or FTD\n\nEXCLUSION CRITERIA:\n\nPatients will be excluded if they\n\n* Have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.\n* Have an unstable medical condition that, in the opinion of the investigators, makes participation unsafe\n* Require daytime ventilator support at the time of study entry\n* Are unable to travel to NIH\n* Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging.\n* Patients with tattoos above the neck or permanent make up will be excluded from undergoing 7T MRI.",[56,57],"ADULT","OLDER_ADULT",[59],{"facility":60,"status":7,"city":61,"state":62,"zip":63,"country":64,"contacts":65,"geoPoint":72},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[66],{"name":67,"role":68,"phone":69,"phoneExt":70,"email":71},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY8664111010","prpl@cc.nih.gov",{"lat":73,"lon":74},38.98067,-77.10026,[76,80],{"name":77,"role":68,"phone":78,"email":79},"Carol H Hoffman","(301) 451-1229","carol.hoffman@nih.gov",{"name":81,"role":68,"phone":82,"email":83},"Justin Y Kwan, M.D.","(301) 496-7428","justin.kwan@nih.gov",[85],{"name":81,"affiliation":12,"role":86},"PRINCIPAL_INVESTIGATOR",[88,92],{"pmid":89,"type":90,"citation":91},"26473392","BACKGROUND","Snowden JS, Adams J, Harris J, Thompson JC, Rollinson S, Richardson A, Jones M, Neary D, Mann DM, Pickering-Brown S. Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):497-505. doi: 10.3109\u002F21678421.2015.1074700. Epub 2015 Oct 16.",{"pmid":93,"type":90,"citation":94},"21944779","Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016\u002Fj.neuron.2011.09.010. Epub 2011 Sep 21.",[96],{"label":97,"url":98},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_2017-N-0131.html",{"nct_id":4,"conditions":100,"biomarkers":106},[19,101,18,102,23,103,104,20,105],"Corticobasal syndrome","Huntington's Disease","Primary Progressive Aphasia","Progressive Bulbar Palsy","Semantic dementia",[107],"SOD1 wt Allele",{"nct_id":4,"found":109,"summary":110,"prompt_version":120},true,{"design":111,"status":112,"heading":113,"summary":114,"follow_up":115,"word_count":116,"commitments":117,"compensation":118,"drugs_mentioned":119},"This is an observational study planning to enroll 360 participants. It is designed to evaluate patients for eligibility in other research protocols and to maintain a patient registry.","completed","Observational Study of Neurodegenerative Disorders (ALS, FTD, PSP)","This observational study is looking into complex brain diseases like Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), and Progressive Supranuclear Palsy (PSP). Researchers want to understand if these conditions, which can affect movement, memory, and thinking, have similar causes or risk factors. The study aims to identify people who might be eligible for other research studies and to create a registry of patients. They will collect clinical information to understand these disorders better. You can join if you are 18 or older and have been diagnosed with one of these neurodegenerative disorders.","Clinical information will be measured until October 30, 2027.",92,"You will have a screening visit that may take 2-3 days, including medical history, physical exam, questions about behavior and mood, and tests of memory, attention, concentration, thinking, and movement.","Not stated in the trial record.",[],"v2"]