[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"frontotemporal-dementia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:frontotemporal-dementia":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,24,0,[8,43,75,130,142,168,198,224,263,293,337,371,397,417,448,474,498,529,551,577,621,642,668,689],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":4},"100053807","phase-1-msc-exosome-therapy-for-frontotemporal-dementia-100053807",false,"NCT07638813","MSC-Exosome Therapy for Frontotemporal Dementia","A Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell-Derived Exosomes Via Intranasal Administration in Patients With Frontotemporal Dementia","Inclusion Criteria:\n\n1. Diagnosis of probable frontotemporal dementia (FTD), including behavioral variant (bvFTD), semantic variant primary progressive aphasia (svPPA), or non-fluent variant primary progressive aphasia (nfvPPA), according to established diagnostic criteria, with supportive neuroimaging evidence showing frontal and\u002For temporal lobe atrophy score of 2 or higher on brain CT or MRI.\n2. Age between 30 and 80 years (inclusive) at screening.\n3. Study partner who agrees to participate in the study, provides at least 3 hours of daily care or visits, and can manage all study medication.\n4. Frontotemporal Lobar Degeneration Clinical Dementia Rating (FTLD-CDR) score of 0-2 and Mini-Mental State Examination (MMSE) score greater than 10 at screening.\n5. Stable use of cognition- or behavior-related medications (e.g., cholinesterase inhibitors, memantine, antidepressants, antipsychotics, mood stabilizers, benzodiazepines) for at least 30 days before baseline.\n6. Signed informed consent form.\n\nExclusion Criteria:\n\n1. History of stroke or other neurological or psychiatric disorder (other than FTD) that is considered the primary cause of behavioral symptoms.\n2. Pregnancy or breastfeeding, or plan to become pregnant during the study period.\n3. Use of any investigational or experimental drug or device within 60 days or 5 half-lives (whichever is longer) prior to screening.\n4. Presence of speech or language impairment that severely affects the implementation of neuropsychological assessments or safety evaluations per the study protocol.\n5. History of cancer, unless: (a) considered cured; (b) not actively receiving anti-cancer therapy or radiation and the investigator judges that treatment is unlikely to be needed in the next 5 years; or (c) for prostate cancer or basal cell carcinoma, no significant progression in the past 2 years.\n6. Any clinically significant hematologic, endocrine, cardiovascular, renal, hepatic, gastrointestinal, or neurological disease that would interfere with study participation. Participants may be included if the condition has been stable for at least one year and the investigator judges that it does not affect participation.\n7. Known hypersensitivity to the study drug or any of its excipients.","ALL","30 Years","80 Years",{"count":20,"type":21},33,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","This study is testing a new treatment for Frontotemporal Dementia (FTD) - a progressive brain disease that affects personality, behavior, and language. Currently, there is no cure for FTD and no approved medication that can slow down or stop the disease. Existing treatments only help manage some symptoms temporarily.\n\nThe investigational treatment in this study is made from exosomes - tiny particles naturally released by umbilical cord stem cells. Exosomes act like \"message carriers\" between cells. Researchers believe they may help protect brain cells, reduce harmful protein buildup, and improve brain function.\n\nThe exosomes will be given as a nasal spray (sprayed into the nose). This method may allow the treatment to reach the brain directly without needing to pass through the blood-brain barrier (a natural protective layer that often blocks medications from entering the brain).",[28],"Frontotemporal Dementia",[28,30],"exosomes","NOT_YET_RECRUITING","2026-07-10",{"date":34,"type":35},"2026-07-13","ACTUAL",{"date":37,"type":21},"2026-07-01",{"date":39,"type":21},"2027-10-31",{"name":41,"class":42},"Ruijin Hospital","OTHER",{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":50,"enrollmentInfo":51,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":54,"conditions":55,"keywords":58,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":74},"100303052","investigating-complex-neurodegenerative-disorders-related-to-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-100303052","NCT03225144","Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia","* 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.","18 Years","110 Years",{"count":52,"type":21},360,"OBSERVATIONAL","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.",[28,56,57],"Amyotrophic Lateral Sclerosis","Progressive Supranuclear Palsy",[59,57,60,28,61,62],"TDP-43","Motor Neuron Disease","Corticobasal Syndrome","Natural History","RECRUITING","2026-06-27",{"date":66,"type":35},"2026-06-30",{"date":68,"type":35},"2017-10-11",{"date":70,"type":21},"2027-10-30",{"name":72,"class":73},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH",1,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":81,"eligibilityCriteria":82,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":83,"targetDuration":4,"studyType":22,"phases":85,"briefSummary":87,"conditions":88,"keywords":112,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":119,"lastUpdatePostDateStruct":120,"startDateStruct":122,"completionDateStruct":124,"leadSponsor":126,"locationsCount":129},"100270060","neurologic-stem-cell-treatment-study-100270060","NCT02795052","Neurologic Stem Cell Treatment Study","Neurologic Bone Marrow Derived Stem Cell Treatment Study","NEST","Inclusion Criteria:\n\n1. Have documented functional damage to the central or peripheral nervous system unlikely to improve with present standard of care.\n2. Be at least 6 months post-onset of the disease.\n3. If under current medical therapy (pharmacologic or surgical treatment) for the condition be considered stable on that treatment and unlikely to have reversal of the associated neurologic functional damage as a result of the ongoing pharmacologic or surgical treatment.\n4. In the estimation of Dr. Weiss and the neurologists have the potential for improvement with BMSC treatment and be at minimal risk of any potential harm from the procedure.\n5. Be over the age of 18 and capable of providing informed consent.\n6. Be medically stable and able to be medically cleared by their primary care physician or a licensed primary care practitioner for the procedure. Medical clearance means that in the estimation of the primary care practitioner, the patient can reasonably be expected to undergo the procedure without significant medical risk to health.\n\nExclusion Criteria:\n\n1. All patients must be capable of an adequate neurologic examination and evaluation to document the pathology. This will include the ability to cooperate with the exam.\n2. Patients must be capable and willing to undergo follow up neurologic exams with the sub-investigators or their own neurologists as outlined in the protocol.\n3. Patients must be capable of providing informed consent.\n4. In the estimation of Dr. Weiss the BMSC collection and treatment will not present a significant risk of harm to the patient's general health or to their neurologic function. .\n5. Patients who are not medically stable or who may be at significant risk to their health undergoing the procedure will not be eligible.\n6. Women of childbearing age must not be pregnant at the time of treatment and should refrain from becoming pregnant for 3 months post treatment.",{"count":84,"type":21},500,[86],"NA","This is a human clinical study involving the isolation of autologous bone marrow derived stem cells (BMSC) and transfer to the vascular system and inferior 1\u002F3 of the nasal passages in order to determine if such a treatment will provide improvement in neurologic function for patients with certain neurologic conditions. http:\u002F\u002Fmdstemcells.com\u002Fnest\u002F",[89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,57,104,56,105,106,107,108,28,109,110,111],"Neurologic Disorders","Nervous System Diseases","Neurodegenerative Diseases","Neurological Disorders","Stroke","Traumatic Brain Injury","Cadasil","Chronic Traumatic Encephalopathy","Cerebral Infarction","Cerebral Ischemia","Cerebral Stroke","Cerebral Hemorrhage","Parkinson","Multi-System Degeneration","MSA - Multiple System Atrophy","ALS","Neuropathy","Diabetic Neuropathies","Alzheimer Disease","Dementia","Lewy Body Disease","Cognitive Impairment","Lewy Body Variant of Alzheimer Disease",[113,114,93,94,115,116,105,117,98,110,108,118],"Neurologic Disease","Cerebral Vascular Accident","Multiple Sclerosis","Parkinsons Disease","Diabetic Neuropathy","Neurodegeneration","2026-06-24",{"date":121,"type":35},"2026-06-26",{"date":123,"type":35},"2016-06",{"date":125,"type":21},"2028-07-31",{"name":127,"class":128},"MD Stem Cells","INDUSTRY",3,{"id":131,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":132,"targetDuration":4,"studyType":22,"phases":133,"briefSummary":26,"conditions":134,"keywords":135,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":137,"startDateStruct":139,"completionDateStruct":140,"leadSponsor":141,"locationsCount":4},"100641403",{"count":20,"type":21},[24,25],[28],[28,30],"2026-06-16",{"date":138,"type":35},"2026-06-18",{"date":37,"type":21},{"date":39,"type":21},{"name":41,"class":42},{"id":143,"slug":144,"hasResults":11,"nctId":145,"briefTitle":146,"officialTitle":146,"acronym":147,"eligibilityCriteria":148,"healthyVolunteers":149,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":150,"targetDuration":4,"studyType":22,"phases":152,"briefSummary":153,"conditions":154,"keywords":155,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":159,"lastUpdatePostDateStruct":160,"startDateStruct":162,"completionDateStruct":164,"leadSponsor":166,"locationsCount":74},"100411598","genetic-fronto-temporal-dementia-initiative-in-lille-100411598","NCT04639622","GENetic Fronto Temporal Dementia Initiative in Lille","GENFI-LILLE","Inclusion Criteria:\n\n* The participant must be 18 years old or older.\n* The participant must be a member of a family with a known pathogenic mutation in the GRN or MAPT genes, or with a pathogenic expansion in the C9orf72 gene :\n\n  * An affected member is one who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum.\n  * An at-risk member is one who is a first-degree relative of a family member affected with the disease.\n  * Pathogenicity of a GRN or MAPT mutation is defined by those included within the GENFI list of FTD mutation. If a novel mutation is discovered that is likely to be pathogenic and has not yet been included within the FTD mutation database then the GENFI Genetics Core will decide on inclusion. Please send an email to the GENFI Trials Team at genfi@ucl.ac.uk.\n  * A pathogenic C9orf72 expansion is defined as greater than 30 repeats. Intermediate expansions are not considered pathogenic.\n  * Participants from one of the small number of families around the world in which 2 (or more) pathogenic mutations have been found should not be included in GENFI.\n* If the participant is demented or cognitively impaired there must be an available caregiver that can escort them.\n* The participant must have an identified informant.\n* The participant must be fluent in the language of their country of assessment.\n* The participant accepts that genetic analysis will be carried out on his\u002Fher blood samples, and that no results will be available neither for the investigator nor for the participant.\n\nExclusion Criteria:\n\n* Participant has another medical or psychiatric illness that would interfere in completing assessments.\n* Contraindications to FDG-PET (allergy to FDG…)\n* Participant is pregnant.",true,{"count":151,"type":21},20,[86],"GENFI Lille is a French cohort that belongs to the international initiative GENFI2, a five year longitudinal biomarker cohort study of genetic FTD and its associated disorders (including MND\u002FALS) investigating members of families with a known mutation in GRN or MAPT or an expansion in C9orf72 (including those affected with the disorder as well as at-risk members of families).",[28],[28,156,157,158],"Biomarker","Social cognition","Genetic mutation","2026-05-20",{"date":161,"type":35},"2026-05-22",{"date":163,"type":35},"2019-04-23",{"date":165,"type":21},"2027-04-23",{"name":167,"class":42},"University Hospital, Lille",{"id":169,"slug":170,"hasResults":11,"nctId":171,"briefTitle":172,"officialTitle":173,"acronym":174,"eligibilityCriteria":175,"healthyVolunteers":149,"sex":16,"minAge":176,"maxAge":177,"enrollmentInfo":178,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":180,"conditions":181,"keywords":182,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":190,"lastUpdatePostDateStruct":191,"startDateStruct":193,"completionDateStruct":195,"leadSponsor":197,"locationsCount":74},"100461453","tanycytes-in-alzheimers-disease-and-frontotemporal-dementia-100461453","NCT05288842","Tanycytes in Alzheimer's Disease and Frontotemporal Dementia","TANYCYTES' ROLE IN ALZHEIMER'S DISEASE AND FRONTOTEMPORAL DEMENTIA: ARE THEY THE KEY TO WELL AGING?","BIOWATCH","Inclusion Criteria:\n\n* Subjects able to undergo a lumbar puncture\n* Subjects registered with the French Social Security, in agreement with the French law on biomedical experimentation\n\nTo be assigned in the study subgroups, subjects will have to fulfill the specific following criteria:\n\nGroup 1: Controls\n\n* absence of cognitive complaint (completion of the memory complaint questionnaire)\n* absence of significant cognitive impairment: normal MMSE according to age and education levels\n* Subjects capable of and willing to comply with the protocol and to give their written informed consents after having received and understood the subject information Group 2: Alzheimer's Disease\n* Diagnosis of probable Alzheimer's disease dementia according to the NIA 2011 criteria1\n* MMSE ≥ 16\n* Subjects who have a study partner. The study partner is required to complete several scales and to drive back the subject after the lumbar puncture for safety reasons. If the subjects or their study partners are not able to drive, their transport fees will be reimbursed by the promotor\n* Subjects and study partners capable of and willing to comply with the protocol and to give their written informed consents after having received and understood the subject information. According to the legal protection or the mental capacities of the subject, the subject will be accompanied by a legally acceptable representative during this procedure Group 3: Frontotemporal Dementia\n* Diagnosis of probable frontotemporal dementia according to the FTDC 2011 criteria2\n* MMSE ≥ 16\n* Subjects who have a study partner. The study partner is required to complete several scales and to drive back the subject after the lumbar puncture for safety reasons. If the subjects or their study partners are not able to drive, their transport fees will be reimbursed by the promotor\n* Subjects and study partners capable of and willing to comply with the protocol and to give their written informed consents after having received and understood the subject information. According to the legal protection or the mental capacities of the subject, the subject be accompanied by a legally acceptable representative during this procedure\n\nExclusion Criteria:\n\n* General exclusion criteria:\n* Subjects with dementia caused by a non-neurodegenerative disease, including patients with severe cerebrovascular risk factor load\n* Subjects who have contraindications to perform a lumbar puncture\n* Subjects who have contraindications to perform a MRI scan\n* Weighted less than 45 kg\n\nAssociated illnesses or conditions:\n\n* Subjects with other neurodegenerative disease such as Lewy body dementia and Parkinson's disease\n* Subjects with other serious neurological disorder such as brain tumor, stroke, epilepsy, hydrocephalus and any condition which contraindicates, in the investigator's judgment, entry to the study;\n* Subjects with severe metabolic or endocrine disorder (excluding hypothyroidism under stable hormone replacement therapy, controlled type 2 diabetes or common dyslipidaemia), previously known or identified at screening\n* Subjects under metformin treatment.\n\nBiological exclusion criteria:\n\n* Subjects with known active HCV, HBV or HIV\n* Subjects with clinical or significant laboratory abnormalities, previously known or identified at screening, in the judgment of the investigator\n\nOthers:\n\n* Pregnancy or breastfeeding or Women of childbearing age without effective contraception (a pregnancy test will be done)\n* Subjects with excessive alcohol intake or drug abuse, in the judgment of the investigator\n* Subjects who, in the opinion of the investigator, have a risk of non-compliance to the study procedures or who are otherwise not appropriate to include in this clinical trial (for example, being impossible to contact in case of emergency)","40 Years","85 Years",{"count":179,"type":21},102,"Metabolic and hormonal deregulations are both a risk factor and a hallmark of Alzheimer's disease (AD) and frontotemporal dementia (FTD), occurring early in the course of the disease. In FTD in particular, hyperorality and dietary changes are associated with metabolic and hormonal changes such as altered levels of the anorexigenic hormone leptin.\n\nThe hypothalamus is a brain region that controls metabolism and hormonal systems. Hypothalamic function depends on its ability to sense peripheral signals. The hypothalamus sits on a circumventricular organ called the median eminence (ME) that puts it in contact with systemic blood circulation. In the ME, fenestrated capillaries allow the diffusion of bloodborne factors. However, despite the lack of blood-brain barrier at brain microvessels, diffusion is controlled by specialized ependymoglial cells, the tanycytes, which exert a barrier function between the ME and the third ventricle and controls the access of blood-borne molecules into the hypothalamus. Previous work from our laboratory and the ERC consortium has highlighted the role of tanycytes not only in the regulation of the release of neurohormones from neuroendocrine nerve terminals into the pituitary portal blood circulation, but also in the transport of circulating leptin into the hypothalamus. Hence hypothalamic dysfunction in AD and FTD can result either from dysregulation of neuroendocrine secretions, direct neuronal loss or from defective transport (and hence resistance) to hormones like leptin.\n\nThis study is to demonstrate that leptin transport though tanycytes is early altered in FTD and AD and correlates",[107,28],[183,28,184,185,186,187,188,189],"Alzheimer disease","tanycytes","metabolism","hormone","cerebrospinal fluid","blood","hypothalamus","2026-05-14",{"date":192,"type":35},"2026-05-18",{"date":194,"type":35},"2022-09-06",{"date":196,"type":21},"2026-10",{"name":167,"class":42},{"id":199,"slug":200,"hasResults":11,"nctId":201,"briefTitle":202,"officialTitle":202,"acronym":4,"eligibilityCriteria":203,"healthyVolunteers":149,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":204,"targetDuration":4,"studyType":22,"phases":206,"briefSummary":207,"conditions":208,"keywords":212,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":216,"startDateStruct":218,"completionDateStruct":220,"leadSponsor":222,"locationsCount":74},"100634883","retinal-hyperspectral-imaging-in-neurodegenerative-diseases-100634883","NCT07545473","Retinal Hyperspectral Imaging in Neurodegenerative Diseases","Inclusion Criteria:\n\n1. Aged over 30 years.\n2. Have dementia or a neurodegenerative disease such as Alzheimer's disease, Parkinson's disease, Lewy body dementia, Niemann-Pick type 2 or vascular dementia (age-matched and sex-matched controls will also be recruited).\n3. With the exception of participants with Parkinson's disease and Lewy body disease, for whom clinical examination by a neurologist is sufficient to establish a clinical diagnosis of probable dementia with Lewy Body or probable Parkinson disease dementia, all participants must have previously undergone at least of one of the following tests to help to confirm a clinical diagnosis of dementia or neurodegenerative disease: genetic tests, blood biomarker tests (amyloid, tau, neurofilament light), a brain amyloid beta PET scan, or cerebrospinal fluid tests.\n4. Have a minimum best corrected visual acuity level of 6\u002F60 in both eyes and no major eye problems, such as advanced age-related macular degeneration, advanced glaucoma, or greater than moderate non-proliferative diabetic retinopathy.\n5. Be willing to participate in the study and attend the Centre for Eye Research Australia.\n6. Be accompanied by a friend or family member.\n\nExclusion Criteria:\n\n1. Inability to provide informed consent\n2. Ocular conditions preventing adequate retinal imaging (e.g., dense cataract, severe corneal opacity, vitreous haemorrhage)\n3. Known contraindication to pharmacological pupil dilation\n4. Any condition that, in the investigator's opinion, would compromise participant safety or image quality",{"count":205,"type":21},930,[86],"Hyperspectral retinal imaging is a non-invasive imaging modality in which a series of images of the retina are captured using light of different wavelengths. The resulting \"hypercube\" of data provides a wealth of information about the retinal structure. Our group has developed evidence supporting a role for this technology in the detection of retinal amyloid beta in Alzheimer's disease. We are undertaking further studies to establish the role of this method in the assessment of people with dementia, or those at risk of Alzheimer's disease. In addition, we wish to test whether the approach may have value in other forms of dementia or neurodegenerative disease such as Parkinson's disease, Lewy-Body dementia or vascular dementia.",[108,91,107,209,28,210,109,211],"Parkinson Disease","Vascular Dementia","Niemann-Pick Diseases",[213,214],"Hyperspectral imaging","Retina","2026-04-21",{"date":217,"type":35},"2026-04-22",{"date":219,"type":35},"2021-10-11",{"date":221,"type":21},"2028-12-31",{"name":223,"class":42},"Center for Eye Research Australia",{"id":225,"slug":226,"hasResults":11,"nctId":227,"briefTitle":228,"officialTitle":229,"acronym":230,"eligibilityCriteria":231,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":232,"enrollmentInfo":233,"targetDuration":4,"studyType":22,"phases":235,"briefSummary":236,"conditions":237,"keywords":241,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":253,"lastUpdatePostDateStruct":254,"startDateStruct":256,"completionDateStruct":258,"leadSponsor":260,"locationsCount":262},"100521076","phase-1-a-study-to-evaluate-the-safety-and-effect-of-avb-101-a-gene-therapy-product-in-subjects-with-a-genetic-sub-type-of-frontotemporal-dementia-ftd-grn-100521076","NCT06064890","A Study to Evaluate the Safety and Effect of AVB-101, a Gene Therapy Product, in Subjects With a Genetic Sub-type of Frontotemporal Dementia (FTD-GRN)","A Phase 1\u002F2 Open-Label, Ascending Dose, Multicenter Study to Evaluate the Safety and Preliminary Efficacy of AVB-101 Administered by Bilateral Intrathalamic Infusion in Subjects With Frontotemporal Dementia With Progranulin Mutations (FTD-GRN)","ASPIRE-FTD","Inclusion Criteria:\n\n* Male or female, 30 to 75 years of age\n* Carriers of a pathogenic GRN mutation\n* FTD as evidenced by CDR + NACC FTLD global score of 0.5, 1.0, or 2.0\n* Presence of 1 or more of the criteria for diagnosis of possible bvFTD or PPA\n* Able and willing to comply with all procedures and the study visit schedule\n* Able and willing to give written informed consent prior to study participation, and agree to designate a legal representative to act on their wishes to continue participation should they lose capacity to consent at some point during the study OR If, in the Investigator's opinion, the subject lacks capacity to consent, written informed consent of their legal representative must be obtained in accordance with local laws, regulations, and\u002For customs. In countries where local laws, regulations, and\u002For customs do not permit subjects who lack capacity to consent to participate in this study, these subjects will not be enrolled\n* An identified, informed study partner who is able and willing to support the participant in the study and to provide assessments of the participant during the study\n\nExclusion Criteria:\n\n* Severe dementia, defined as CDR + NACC FTLD global score of 3.0, or other symptoms that preclude the ability to comply with study procedures and\u002For pose unacceptable safety risk to the subject\n* Any concurrent disease that may cause cognitive impairment unrelated to mutations in the GRN gene, such as other causes of dementia, neurosyphilis, hydrocephalus, stroke, small vessel ischemic disease, uncontrolled hypothyroidism, or vitamin B12 deficiency\n* Clinically significant abnormality on MRI at Screening considered to be a contraindication to Intrathalamic infusion\n* Surgically significant pattern of brain atrophy on MRI at Screening that interferes with planned neurosurgical trajectory\n* Previous treatment with any gene or cell therapy\n* Previous treatment with any investigational medicinal product (IMP) within 60 days or 5 half-lives (whichever is longer) prior to study drug treatment\n* Concomitant disease, any clinically significant laboratory abnormality, or treatment which, in the opinion of the Investigator, may pose an unacceptable safety risk to the participant or interfere with study conduct or the participant's ability to comply with study procedures including neurosurgical administration under anesthesia","75 Years",{"count":234,"type":21},18,[24,25],"The goal of this clinical study is to learn about an investigational gene therapy product called AVB-101, which is designed to treat a disease called Frontotemporal Dementia with Progranulin Mutations (FTD-GRN). FTD-GRN is an early-onset form of dementia, a progressive brain disorder that affects behavior, language and movement. These symptoms result from below normal levels of a protein called progranulin (PGRN) in the brain, which leads to the death of nerve cells (neurons), affecting the brain's ability to function.\n\nThe main questions that the study aims to answer are:\n\n1. Is a one-time treatment with AVB-101 safe for patients with FTD-GRN?\n2. Does a one-time treatment with AVB-101 restore PGRN levels to at least normal levels?\n3. Could AVB-101 work as a treatment to slow down or stop progression of FTD-GRN?\n\nIn this study there is no placebo (a dummy pill or treatment used for comparison purposes), so all participants will receive a one-time treatment of AVB-101 delivered directly to the brain, with follow-up assessments for 5 years.",[28,238,239,240],"FTD","FTD-GRN","Dementia, Frontotemporal",[242,243,244,245,246,247,248,249,250,108,251,252],"Gene Therapy","AAV","Intrathalamic","Intraparenchymal","Progranulin","Behavioral Variant FTD","Primary Progressive Aphasia","PGRN","Granulin","Dementia Gene Therapy","AAV9","2026-04-07",{"date":255,"type":35},"2026-04-13",{"date":257,"type":35},"2023-08-30",{"date":259,"type":21},"2030-03-21",{"name":261,"class":128},"AviadoBio Ltd",19,{"id":264,"slug":265,"hasResults":11,"nctId":266,"briefTitle":267,"officialTitle":268,"acronym":4,"eligibilityCriteria":269,"healthyVolunteers":149,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":271,"targetDuration":4,"studyType":22,"phases":273,"briefSummary":274,"conditions":275,"keywords":281,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":284,"lastUpdatePostDateStruct":285,"startDateStruct":287,"completionDateStruct":289,"leadSponsor":291,"locationsCount":74},"100562542","phase-2-vortioxetine-for-the-treatment-of-mood-and-cognitive-symptoms-in-frontotemporal-dementia-100562542","NCT06604520","Vortioxetine for the Treatment of Mood and Cognitive Symptoms in Frontotemporal Dementia","Functional Neuroimaging to Examine Affective Symptoms and Cognition in Frontotemporal Dementia","FTD Patients\n\nInclusion Criteria:\n\n1. Male or Female\n2. Age 45 and above\n3. Diagnosis of possible or probable bvFTD based on international consensus criteria for behavioral variant FTD (FTDC)\n4. The presence of at least one of the following affective symptoms on the 12-item Neuropsychiatric Inventory: depression, anxiety, irritability, or agitation\n5. A global Clinical Dementia Rating (CDR®) plus National Alzheimer's Coordinating Center (NACC) Frontotemporal lobar degeneration (FTLD) Behavior and Language Domains global score (CDR® plus NACC FTLD) less than or equal to one\n6. Patients must be medically stable\n7. Vortioxetine treatment is clinically indicated\n8. Competent to provide informed consent\n\nExclusion Criteria:\n\n1. No history of drug or alcohol dependence within six months prior to study entry\n2. Negative toxicology screening for drugs of abuse\n3. Subject must not be pregnant or nursing\n4. No contraindications to Vortioxetine treatment\n5. No contraindications for Magnetic Resonance (MR) scanning (e.g. metal implanted in the body)\n\nHealthy Controls\n\nInclusion Criteria:\n\n1. Male or Female\n2. Age 45 and above\n3. Subjects must be medically stable\n4. Free of psychotropic medications\n5. Competent to provide informed consent\n\nExclusion Criteria:\n\n1. No current or past history of neurological or psychiatric illness or substance abuse\n2. Subject must not be pregnant or nursing\n3. Negative toxicology screening for drugs of abuse\n4. No contraindications for MR scanning (e.g. metal implanted in the body)","45 Years",{"count":272,"type":21},50,[25],"The goal of this clinical trial is to learn if vortioxetine improves mood symptoms and cognition in patients with early-stage behavioral variant Frontotemporal Dementia (bvFTD). The main questions this study aims to answer are:\n\n1. Do individuals with mood symptoms and bvFTD have brain changes and cognitive profiles that differ compared to individuals without bvFTD?\n2. Do mood symptoms and cognition improve following treatment with vortioxetine?\n\nResearchers will also determine whether there are changes in the brain associated with vortioxetine treatment.\n\nParticipants will:\n\n* Undergo a screening visit that involves clinical assessments and laboratory tests\n* Undergo an initial brain magnetic resonance imaging (MRI) and fluorodeoxyglucose (18F) Positron Emission Tomography (FDG PET) scan before starting treatment with vortioxetine\n* Undergo memory and problem-solving tests before starting treatment with vortioxetine\n* Undergo approximately 12 weeks of treatment with vortioxetine, during which time there will be regular contact and assessments with the study psychiatrist\n* Undergo a repeat PET scan and repeat memory and problem-solving tests after 12 weeks of treatment with vortioxetine",[276,277,278,279,280,28],"Fronto-temporal Dementia","Fronto-temporal Lobar Dementia","Frontotemporal Degeneration","Frontotemporal Dementia (FTD)","Frontotemporal Dementia, Behavioral Variant",[238,28,282,283],"Neuropsychiatric Symptoms","Antidepressant","2026-03-05",{"date":286,"type":35},"2026-03-09",{"date":288,"type":35},"2025-03-20",{"date":290,"type":21},"2029-09-01",{"name":292,"class":42},"Johns Hopkins University",{"id":294,"slug":295,"hasResults":11,"nctId":296,"briefTitle":297,"officialTitle":298,"acronym":4,"eligibilityCriteria":299,"healthyVolunteers":149,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":300,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":302,"conditions":303,"keywords":316,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":328,"lastUpdatePostDateStruct":329,"startDateStruct":331,"completionDateStruct":333,"leadSponsor":335,"locationsCount":74},"100303705","retinal-imaging-in-neurodegenerative-disease-100303705","NCT03233646","Retinal Imaging in Neurodegenerative Disease","Evaluating the Retinal and Choroidal Microvasculature and Structure Using Multimodal Retinal and Choroidal Imaging in Neurodegenerative Disease: iMIND Research Study","Inclusion Criteria:\n\n* Adults with neurodegenerative disease ((MCI, PD, AD, FTD, DLB, ALS, MS, HD, TBI, concussion, PTSD and other neurodegenerations as well as Down Syndrome)\n* Adults without neurodegenerative disease\n\nExclusion Criteria:\n\n* Inability to cooperate with or complete testing or other neurologic or age- related ocular conditions that would impact image acquisition.\n* Eyes that have had intraocular surgery, other than cataract surgery.\n\nIf two eyes satisfy the inclusion criteria, both eyes will be included in the study. If one eye satisfies the inclusion criteria, the eye that qualifies will be included in the study.",{"count":301,"type":21},2000,"This study aims to develop and evaluate biomarkers using non-invasive optical coherence tomography (OCT) and OCT angiography (OCTA) as well as ultra-widefield (UWF) fundus photography to assess the structure and function of the retinal and choroidal microvasculature and structure in persons with mild cognitive impairment (MCI) and Alzheimer's Disease (AD), Parkinson's Disease (PD), or other neurodegenerative disease, diseases as outlined.",[304,305,306,115,307,308,28,309,310,94,311,312,313,314,315],"Alzheimer's Disease","Mild Cognitive Impairment","Parkinson's Disease","Huntington Disease","Lewy Body Dementia","Amyotrophic Lateral Sclerosis (ALS)","APOE-4 Positive","Concussion","Post-Traumatic Stress Disorder","Down Syndrome","Neuro-Degenerative Disease","Normal Cognition",[317,318,319,320,321,322,323,324,325,326,327],"OCT angiography (OCTA)","Optical Coherence Tomography (OCT)","Vessel Density","Superficial Capillary Plexus","Retinal microvasculature","Scanning Laser Ophthalmoscopy","Ultra-widefield (UWF) Imaging","Perfusion Density","Retinal Nerve Fiber Layer","Ganglion Cell Inner Plexiform Layer","Choroidal Vascularity Index","2026-02-02",{"date":330,"type":35},"2026-02-04",{"date":332,"type":35},"2017-07-20",{"date":334,"type":21},"2026-12-31",{"name":336,"class":42},"Duke University",{"id":338,"slug":339,"hasResults":11,"nctId":340,"briefTitle":341,"officialTitle":341,"acronym":342,"eligibilityCriteria":343,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":344,"enrollmentInfo":345,"targetDuration":346,"studyType":53,"phases":4,"briefSummary":347,"conditions":348,"keywords":350,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":361,"lastUpdatePostDateStruct":362,"startDateStruct":364,"completionDateStruct":366,"leadSponsor":368,"locationsCount":370},"100556794","improving-prognostic-confidence-in-neurodegenerative-diseases-causing-dementia-using-peripheral-biomarkers-and-integrative-modeling-100556794","NCT06529744","Improving Prognostic Confidence in Neurodegenerative Diseases Causing Dementia Using Peripheral Biomarkers and Integrative Modeling","CRND TorCA","Inclusion Criteria:\n\n* Possible or probable diagnosis of MCI or early dementia\n* Age 30-95\n* Study partner who has some weekly contact with patient. Some of the neuropsychological assessment require collateral from close contacts to assess cognition and functioning. Since neurodegenerative diseases can be associated with reduced cognition, including reduced awareness of one's own impairments, participants will be assessed for their capacity to consent at all study visits.\n* Must, in the opinion of the site investigator, be able to complete most study procedures.\n\nExclusion Criteria:\n\n* Participants who are not able to complete the majority of assessments in the opinion of the PI are excluded from the study. Exclusion criteria are evaluated at the site investigator's discretion; if the site investigator believes that the participant's symptoms are due to causes other than neurodegeneration, despite the presence of an exclusionary condition, the investigator may overrule the exclusion.","95 Years",{"count":84,"type":21},"1 Year","To develop a model to predict disease progression in a large cohort of patients across a variety of neurodegenerative diseases, including Mild Cognitive Impairment (MCI) and dementia due to any neurodegenerative disease, including Alzheimer's Disease (AD), Lewy Body Disease (LBD), Vascular Disease (VaD) and Frontotemporal lobar degeneration (FTLD).",[108,107,349,210,28,305,61,57,209,248],"Dementia With Lewy Bodies",[351,352,353,354,355,356,357,358,359,360],"alzheimer's disease","dementia","dementia with lewy bodies","vascular dementia","frontotemporal dementia","mild cognitive impairment","corticobasal syndrome","progressive supranuclear palsy","parkinson's disease","primary progressive aphasia","2025-11-17",{"date":363,"type":35},"2025-11-20",{"date":365,"type":35},"2023-11-11",{"date":367,"type":21},"2027-11",{"name":369,"class":42},"University Health Network, Toronto",4,{"id":372,"slug":373,"hasResults":11,"nctId":374,"briefTitle":375,"officialTitle":375,"acronym":376,"eligibilityCriteria":377,"healthyVolunteers":149,"sex":16,"minAge":49,"maxAge":378,"enrollmentInfo":379,"targetDuration":4,"studyType":22,"phases":381,"briefSummary":382,"conditions":383,"keywords":386,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":388,"lastUpdatePostDateStruct":389,"startDateStruct":391,"completionDateStruct":393,"leadSponsor":395,"locationsCount":74},"100563210","stella-ftd-examination-of-a-behavior-change-intervention-for-ftd-family-care-partners-100563210","NCT06613204","STELLA-FTD: Examination of a Behavior Change Intervention for FTD Family Care Partners","STELLA-FTD","Inclusion Criteria: Family Care Partner\n\n* Adult caring for family member with FTD.\n* Provides 4 or more hours of care\u002Fweek. Does not have to reside with.\n* Identifies at least 2 moderately upsetting behaviors in the person with FTD.\n* Speaks and understands English to be able to participate in intervention.\n* Owns a telephone (smartphone, cell phone or landline).\n* Has email and mailing address to receive computer, study materials and surveys.\n* Provides informed consent to participate in the research.\n* Lives in the US\n\nInclusion Criteria: Person with FTD\n\n* Diagnosis of FTD\n* Family member of a Care Partner (this can be a relative, spouse, or close kin that is considered family).\n* Lives in US\n\nExclusion Criteria: Person with FTD\n\n* No Frontotemporal Degeneration diagnosis.\n* Unable to leave Care Partner during STELLA-FTD sessions.\n* Enrolled in hospice.\n\nExclusion Criteria: Family Care Partner\n\n* Unable to find activity for Care Recipient during STELLA-FTD sessions to allow Care Partner to work privately with Guide and other Care Partners.\n* Hearing and\u002For vision problems severe enough to prevent participation.\n* Refuses to be video-recorded during STELLA-FTD sessions.\n* Unwilling or unable to adequately follow study instructions and participate in study procedures.","100 Years",{"count":380,"type":21},640,[86],"The purpose of this nationwide study is to test STELLA-FTD (Support via Telehealth: Living and Learning with Advancing Alzheimer's Disease)-FTD, an intervention to specifically address the needs of family Care Partners of persons with frontotemporal degeneration (FTD). STELLA-FTD is a multicomponent videoconference-based intervention designed to facilitate effective use of community and peer resources to foster effective management of behavioral and psychological symptoms of dementia. The study is recruiting families from across the United States.",[28,384,385,61],"Caregiver Burden","Primary Progressive Aphasia (PPA)",[387,238],"behavioral intervention","2025-10-23",{"date":390,"type":35},"2025-10-27",{"date":392,"type":35},"2025-06-23",{"date":394,"type":21},"2029-06",{"name":396,"class":42},"Oregon Health and Science University",{"id":398,"slug":399,"hasResults":11,"nctId":400,"briefTitle":401,"officialTitle":401,"acronym":4,"eligibilityCriteria":402,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":403,"targetDuration":4,"studyType":22,"phases":405,"briefSummary":406,"conditions":407,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":408,"lastUpdatePostDateStruct":409,"startDateStruct":411,"completionDateStruct":413,"leadSponsor":415,"locationsCount":74},"100464365","non-invasive-neurostimulation-as-a-tool-for-diagnostics-and-management-for-neurodegenerative-diseases-100464365","NCT05326750","Non-invasive Neurostimulation as a Tool for Diagnostics and Management for Neurodegenerative Diseases","Inclusion Criteria:\n\n* Mild Cognitive Impairment due to Alzheimer's disease\n* Dementia with Lewy Bodies\n* Frontotemporal dementia\n* Idiopathic normal pressure hydrocephalus (iNPH)\n\nExclusion Criteria:\n\n* History of seizures\n* Pregnancy\n* Metal implants in the head (except dental fillings)\n* Electronic implants (i.e. pace-maker, implanted medical pump)\n* Age \\\u003C18 years",{"count":404,"type":21},200,[86],"Double blinded, sham-controlled, randomized trial on repeated transcranial alternating current brain stimulation (tACS) in neurodegenerative diseases. The investigators will evaluate whether a 4-times daily repeated stimulation with gamma tACS on the posterior parietal cortex can improve symptoms in patients with neurodegenerative diseases, including dementia with Lewy Bodies, Alzheimer's disease, idiopathic normal pressure hydrocephalus and Frontotemporal dementia.",[107,28,349],"2025-08-26",{"date":410,"type":35},"2025-09-03",{"date":412,"type":35},"2022-11-21",{"date":414,"type":21},"2032-07",{"name":416,"class":42},"Kuopio University Hospital",{"id":418,"slug":419,"hasResults":11,"nctId":420,"briefTitle":421,"officialTitle":422,"acronym":4,"eligibilityCriteria":423,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":424,"targetDuration":4,"studyType":22,"phases":426,"briefSummary":427,"conditions":428,"keywords":435,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":439,"lastUpdatePostDateStruct":440,"startDateStruct":442,"completionDateStruct":444,"leadSponsor":446,"locationsCount":74},"100545064","using-the-ehr-to-advance-genomic-medicine-across-a-diverse-health-system-100545064","NCT06377033","Using the EHR to Advance Genomic Medicine Across a Diverse Health System","Using Behavioral Economics and Implementation Science to Advance the Use of Genomic Medicine Utilizing an EHR Infrastructure Across a Diverse Health System","Inclusion Criteria:\n\n* 18 years of age or older\n* diagnosed with one of the study conditions\n\nExclusion Criteria:\n\n* Under 18 years of age\n* not diagnosed with one of the study conditions",{"count":425,"type":21},1000,[86],"Given the expansion of indications for genetic testing and our understanding of conditions for which the results change medical management, it is imperative to consider novel ways to deliver care beyond the traditional genetic counseling visit, which are both amenable to large-scale implementation and sustainable. The investigators propose an entirely new approach for the implementation of genomic medicine, supported by the leadership of Penn Medicine, investigating the use of non-geneticist clinician and patient nudges in the delivery of genomic medicine through a pragmatic randomized clinical trial, addressing NHGRI priorities. Our application is highly conceptually and technically innovative, building upon expertise and infrastructure already in place.\n\nInnovative qualities of our proposal include: 1) Cutting edge EHR infrastructure already built to support genomic medicine (e.g., partnering with multiple commercial genetic testing laboratories for direct test ordering and results reporting in the EHR); 2) Automated EHR-based direct ordering or referring by specialist clinicians (i.e., use of replicable modules that enable specialist clinicians to order genetic testing through Epic Smartsets, including all needed components, such as populated gene lists, smartphrases, genetic testing, informational websites and acknowledgement e-forms for patient signature); 3) EHR algorithms for accurate patient identification (i.e., electronic phenotype algorithms to identify eligible patients, none of which currently have phenotype algorithms present in PheKB; 4) Behavioral economics-informed implementation science methods: This trial will be the first to evaluate implementation strategies informed by behavioral economics, directed at clinicians and\u002For patients, for increasing the use of genetic testing; further it will be the first study in this area to test two forms of defaults as a potential local adaptation to facilitate implementation (ordering vs. referring); and 5) Dissemination: In addition to standard dissemination modalities,PheKB95, GitHub and Epic Community Library, the investigators propose to disseminate via AnVIL (NHGRI's Genomic Data Science Analysis, Visualization, and Informatics Lab-Space). Our results will represent an entirely new paradigm for the provision of genomic medicine for patients in whom the results of genetic testing change medical management.",[429,430,431,104,209,432,28,107,433,434],"Genetic Predisposition","Paraganglioma","Pheochromocytoma","Polyneuropathies","Cardiomyopathy Non-ischemic","Thoracic Aortic Aneurysm",[436,437,438],"Genetic testing","Genomic medicine","Electronic health record","2025-07-16",{"date":441,"type":35},"2025-07-20",{"date":443,"type":35},"2024-06-10",{"date":445,"type":21},"2027-06-30",{"name":447,"class":42},"University of Pennsylvania",{"id":449,"slug":450,"hasResults":11,"nctId":451,"briefTitle":452,"officialTitle":453,"acronym":4,"eligibilityCriteria":454,"healthyVolunteers":149,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":455,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":456,"conditions":457,"keywords":461,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":465,"lastUpdatePostDateStruct":466,"startDateStruct":468,"completionDateStruct":470,"leadSponsor":472,"locationsCount":74},"100159845","characterization-of-inclusion-body-myopathy-associated-with-pagets-disease-of-bone-and-frontotemporal-dementia-ibmpfd-100159845","NCT01353430","Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)","Characterization of Familial Myopathy and Paget Disease of Bone","Inclusion Criteria:\n\n* Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:\n\nMuscle disorders considered include:\n\n* Limb Girdle Muscular Dystrophy\n* Myopathy\n* Inclusion body myopathy\n* FSH (Facioscapular muscular dystrophy) without the mutation\n* Scapuloperoneal muscular dystrophy\n* Amyotrophic Lateral Sclerosis\n* Non specific muscular dystrophy\n\nAND\n\n* Bone disorders including:\n\n  * Paget disease of bone\n  * Fibrous dysplasia\n  * Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)\n  * Non-specific bone disease\n\nEligible participants must also be:\n\n* Subjects must to 18 years or older\n* Subjects must to able to give consent\n* Adult family members or spouses over the age of 18 of the affected individuals\n\nExclusion Criteria:\n\n* Under the age of 18.\n\nIndividuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing.\n\nThose who are unable to provide consent for themselves will be excluded from participating in the study.",{"count":272,"type":21},"The investigators are researching families with inherited inclusion body myopathy (IBM) and\u002For Paget disease of bone (PDB) and\u002For dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease.\n\nThe investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan.\n\nSamples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.",[458,459,28,460],"Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia","Paget Disease of Bone","Myopathy",[462,463,464],"IBMPFD - Inclusion Body Myopathy associated with","Paget's disease of bone and Frontotemporal Dementia","VCP gene - Valosin-containing protein gene","2025-06-13",{"date":467,"type":35},"2025-06-18",{"date":469,"type":35},"2007-11-15",{"date":471,"type":21},"2030-12",{"name":473,"class":42},"University of California, Irvine",{"id":475,"slug":476,"hasResults":11,"nctId":477,"briefTitle":478,"officialTitle":479,"acronym":4,"eligibilityCriteria":480,"healthyVolunteers":149,"sex":16,"minAge":176,"maxAge":232,"enrollmentInfo":481,"targetDuration":4,"studyType":22,"phases":482,"briefSummary":483,"conditions":484,"keywords":485,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":489,"lastUpdatePostDateStruct":490,"startDateStruct":492,"completionDateStruct":494,"leadSponsor":496,"locationsCount":74},"100468015","phase-1-first-in-human-evaluation-of-an-astrocytic-glutamate-transporter-eaat2-pet-tracer-in-dementia-100468015","NCT05374278","First-in-Human Evaluation of an Astrocytic Glutamate Transporter (EAAT2) PET Tracer in Dementia","First-in-Human Evaluation of an Astrocytic Glutamate Transporter (EAAT2) PET Tracer in the Brains of Healthy Controls and Patients With Dementia.","Inclusion Criteria:\n\n1. Age 40-75\n2. Age-suitable BMI\n3. Ability to provide written informed consent and willingly comply with protocol requirements or has a legal authorized representative\u002Fguardian who provides surrogate informed consent.\n4. No apparent physical disorder.\n5. Radial, ulnar, or brachial artery suitable for catheterization.\n6. Non-smoker, and not taking OTC nicotine cessation - to limit peripheral metabolism events.\n7. Devoid of CNS prescription drugs for three weeks - to limit peripheral metabolism events.\n\n   For Cohort 2B and 2C:\n8. Must have a study partner (informant) who spends a minimum average of 5 hours per week with the participant (e.g. family member, significant other, friend, caregiver), is generally aware of the participant's daily activities, can provide information about the participant's cognitive and functional performance, and will accompany the participant in all study procedure.\n9. Recent (within 6 mo.) MME clinical scores.\n\nExclusion Criteria:\n\n1. Unable to provide written informed consent and unwilling to comply with protocol requirements, or does not have a legal authorized representative\u002Fguardian who can provide surrogate informed consent.\n2. Inadequate arterial access.\n3. Receipt of radioisotope \\\u003C 5 half-lives within \\[18F\\]RP-115 imaging- as to not confound any scans with radiation background for previous scanning, and unsuitable organ dosimetry thresholds from previous (\\> two weeks) PET scans.\n4. The performed \\[18F\\]RP-115 scan(s) must not represent \\> 3 PET studies total within one year.\n5. Contra-indication to magnetic resonance, including permanent pacemaker, implantable metallic device, etc.; or severe claustrophobia.\n6. Participants who are pregnant (female patients of childbearing age will be tested prior to injection of tracer- positive test excludes from the study)\n7. Participants who are breast-feeding.\n8. Have a medical condition or other circumstances that in the opinion of the project physicians would significantly decrease chances of obtaining reliable data, achieving the study objective or completing the study.",{"count":179,"type":21},[24,25],"This is a first in human study that will assess the safety and diagnostic performance of \\[18F\\]RP-115 (fluorine-18 labeled RP115), a positron emission tomography (PET) agent. This agent has the potential to identify the early changes that occur in the brains of patients with Alzheimer's disease (AD) and frontotemporal dementia (FTD).",[107,28,108],[107,486,487,488,28],"Nuclear medicine","Positron emission tomography","Magnetic resonance imaging","2025-04-16",{"date":491,"type":35},"2025-04-17",{"date":493,"type":35},"2021-11-02",{"date":495,"type":21},"2027-05-31",{"name":497,"class":42},"David Wilson",{"id":499,"slug":500,"hasResults":11,"nctId":501,"briefTitle":502,"officialTitle":503,"acronym":504,"eligibilityCriteria":505,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":506,"targetDuration":4,"studyType":22,"phases":508,"briefSummary":509,"conditions":510,"keywords":513,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":519,"lastUpdatePostDateStruct":520,"startDateStruct":522,"completionDateStruct":524,"leadSponsor":526,"locationsCount":528},"100496320","phase-2-nabilone-for-agitation-in-frontotemporal-dementia-100496320","NCT05742698","Nabilone for Agitation in Frontotemporal Dementia","Double Blind Crossover Clinical Trial of Nabilone for Agitation in Frontotemporal Dementia","Nabilone-FTD","Inclusion Criteria:\n\n* Men and women over 18 years\n* Major neurocognitive disorder due to probable behavioural variant FTD (Rascovsky criteria)17 or primary progressive aphasia (Gorno-Tempini criteria)18. All ages and severity levels will be included.\n* Meets International Psychogeriatric Association criteria for agitation in cognitive disorders19\n* CMAI score of 39 or above\n* Stable psychoactive medication for 2 weeks prior to screening (all medications allowed) with no intention to change dose during treatment period\n* Available study partner with ≥10 hours per week in-person contact with the patient. This can either be a friend\u002Ffamily member or a staff member at an assisted living facility.\n* Capacity to provide written consent in English or French, or consent from official surrogate decision maker in case of incapacity\n\nRationale for Inclusion Criteria: The inclusion criteria are designed to enroll patients with FTD with the behaviours of interest, with a range of disease severity that will permit assessment of all outcome measures.\n\nExclusion Criteria:\n\n* Clinically significant psychotic symptoms (Neuropsychiatric Inventory domain score (severity x frequency) ≥4 on the delusions or hallucinations subscale)\n* Clinically significant orthostatic hypotension (a decrease in systolic blood pressure of 20 mm Hg or in diastolic blood pressure of 10 mm Hg within three minutes of standing compared to blood pressure in a seated position)\n* Symptomatic orthostatic tachycardia (heart rate increase from of at least 30 beats per minute within the first 5 minutes of standing compared to a seated position IF orthostatic hypotension is not a problem)\n* Unstable cardiovascular condition in the opinion of the investigator\n* Known or suspected history of drug or alcohol dependence or abuse in the past 12 months, including use of any psychomimetic drugs (e.g. ketamine, lysergic acid diethylamide, psilocybin).\n* Allergy, or significant adverse reaction to cannabinoids. If the adverse reaction involved psychological symptoms that are indicative of psychosis or severe anxiety the patient will be excluded. Their treating clinician may be consulted for a clinical opinion on the severity of the response to cannabis and whether this justifies exclusion from the trial.\n* Major depressive episode within 6 months of screening\n* Women who are breast feeding or pregnant\n* Severe liver dysfunction, as determined by their treating clinician\n* Other psychiatric or neurological condition that could cause significant agitation\n* Ongoing use of any cannabinoid-related products. This includes any THC or CBD based products, regardless of administration method (oral, inhalation, topical, etc…)\n\nRationale for Exclusion Criteria: The exclusion criteria are designed to avoid inclusion of patients who may have medical comorbidities that would increase their risk of serious side effects from repeated nabilone administration.",{"count":507,"type":21},45,[25],"The primary goal of this study is to test the hypothesis that oral nabilone treatment will reduce agitation compared with placebo in patients with Frontotemporal Dementia (both behavioural variant frontotemporal dementia and primary progressive aphasia). The study population is defined as patients with probable Frontotemporal Dementia that meet the International Psychogeriatric Association criteria for agitation in cognitive disorders.",[28,280,248,511,512,238],"bvFTD","PPA",[514,515,516,517,108,518,238],"Nabilone","Nabilone FTD","Agitation","TEVA Nabilone","BvFTD","2025-04-11",{"date":521,"type":35},"2025-04-15",{"date":523,"type":35},"2023-03-07",{"date":525,"type":21},"2026-05",{"name":527,"class":42},"Simon Ducharme, MD",7,{"id":530,"slug":531,"hasResults":11,"nctId":532,"briefTitle":533,"officialTitle":533,"acronym":534,"eligibilityCriteria":535,"healthyVolunteers":149,"sex":16,"minAge":536,"maxAge":537,"enrollmentInfo":538,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":539,"conditions":540,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":542,"lastUpdatePostDateStruct":543,"startDateStruct":545,"completionDateStruct":547,"leadSponsor":549,"locationsCount":74},"100499173","genetic-frontotemporal-dementia-initiative-for-neurodevelopment-100499173","NCT05779813","Genetic Frontotemporal Dementia Initiative for Neurodevelopment","GENFI-NeuroDev","Inclusion Criteria:\n\n1. Written informed consent must be obtained and documented (from the participant and their substitute decision maker). This can be obtained in person or remotely.\n2. Youths between the ages of 9 and 16 inclusive at time of enrollment, followed until age 17.\n3. Youths must have a 1st or 2nd degree biological relative who has participated (past or present) in the Genetic Frontotemporal Dementia Initiative (GENFI) study or with genetic FTD (i.e. a known mutation in biological parent or grandparent).\n4. Parent(s)\u002Fguardian deem appropriate to participate.\n5. Must have a study partner who can participate as required in the protocol (provide corroborative information). Study partner must have regular contact with the participant and must be parent\u002Fguardian of this participant.\n6. Must have age-appropriate awareness that FTD runs in their family as determined by local PI.\n\nExclusion Criteria:\n\n1. Current structural brain abnormality affecting cognition or behaviour not thought to be possibly related to genetic FTD that would prevent completion of study assessments (such as brain tumor, stroke, hydrocephalus).\n2. Other concerns that participation in the study may not be in the best interest of the youth or parent, as raised by the participant's parent\u002Fguardian\u002Fprimary care provider, local site PI or psychologist.\n3. Lack of study partner.\n4. For MRI: meeting any MRI incompatible criteria. Note: Participants may opt to decline MRI scans and complete the other measures.","7 Years","17 Years",{"count":404,"type":21},"This is an international multi-centre cohort study of first and second degree family members of individuals who carry Frontotemporal Dementia (FTD) mutations in MAPT, GRN or C9ORF72 repeat expansions for youths between the ages 9-17.",[28,541],"Family Members","2025-03-31",{"date":544,"type":35},"2025-04-03",{"date":546,"type":35},"2023-03-31",{"date":548,"type":21},"2035-03",{"name":550,"class":42},"Western University",{"id":552,"slug":553,"hasResults":11,"nctId":554,"briefTitle":555,"officialTitle":555,"acronym":4,"eligibilityCriteria":556,"healthyVolunteers":149,"sex":16,"minAge":17,"maxAge":344,"enrollmentInfo":557,"targetDuration":4,"studyType":22,"phases":559,"briefSummary":560,"conditions":561,"keywords":562,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":568,"lastUpdatePostDateStruct":569,"startDateStruct":571,"completionDateStruct":573,"leadSponsor":575,"locationsCount":74},"100281614","molecular-neuroimaging-of-neuroinflammation-in-neurodegenerative-dementias-100281614","NCT02945774","Molecular Neuroimaging of Neuroinflammation in Neurodegenerative Dementias","Inclusion Criteria:\n\n1. Patients diagnosed with a probable Frontotemporal Dementia or neurologically healthy control participants with no history of neurological problems\n2. Study partner is available who has frequent contact with the subject and can accompany the subject to all clinic visits for the duration of the protocol.\n3. Visual and auditory acuity adequate for neuropsychological testing\n4. Good general health with no diseases expected to interfere with the study.\n5. Subject is not pregnant, lactating, or of childbearing potential (i.e. women must be two years post-menopausal, surgically sterile or practicing an effective form of family planning\n6. Willing to participate in a longitudinal imaging study at 12 months.\n7. Willing to undergo MRI (3Tesla)\u002F PET scan (with FEPPA ligand) and no medical contraindications to MRI.\n\nExclusion Criteria:\n\n1. Any significant neurologic disease other than suspected Frontotemporal Dementia that would better account for symptoms (i.e. frontal lobe stroke).\n2. Screening\u002Fbaseline MRI scans with evidence of infection, infarction, or other focal lesions. Subjects with multiple lacunes are excluded.\n3. Presence of pacemakers, aneurysm clips, artificial heart valves, ear implants, metal fragments or foreign objects in the eyes, skin or body that may preclude MRI participation as per MRI screening form.\n4. Major depression, bipolar disorder as described in DSM-IV within the past 1 year. Psychotic features, agitation or behavioral problems within the last 3 months which could lead to difficulty complying with the protocol.\n5. History of schizophrenia (DSM IV criteria).\n6. Any significant systemic illness or unstable medical condition which could lead to difficulty complying with the protocol.\n7. Clinically significant abnormalities in B12, or thyroid function tests that might interfere with the study.\n8. Investigational agents are prohibited one month prior to entry and for the duration of the trial.\n9. Exclusion for FEPPA: Current or recent participation in any procedures involving radioactive agents such that the total radiation dose exposure to the subject in any given year would exceed the limits of annual and total dose commitment set forth. The current regulation for radiation dose to patient volunteers and health control volunteers are contained within Health Canada's recently amended (June 19, 2012) Regulations Amending the Food and Drug Regulations (Positron-emitting Radiopharmaceuticals). Limitations for effective total body dose is 50 mSv (C.03.305 (c)) which has been increased from the previous values of 20 mSv (Table 1 in INFO-0491).\n10. Exclusion Criteria for controls undergoing arterial line placement: Absent pulse, Thromboangiitis obliterans (Buerger disease), Burns over the cannulation site, Inadequate circulation to the extremity, Raynaud syndrome, Anticoagulation therapy, Atherosclerosis of upper extremity vessels, Coagulopathy, inadequate collateral flow, Infection at the cannulation site, Previous surgery in the area, Synthetic vascular graft.",{"count":558,"type":21},40,[86],"Neuroinflammation is increasingly implicated as a potential critical pathogenic mechanism in a variety of neurologic and psychiatric disorders. This study will use hybrid PET\u002FMRI imaging to evaluate neuroinflammation and its relationship to cerebral perfusion in frontotemporal dementia (FTD). Patients with FTD will be recruited from the Cognitive Neurology and Aging Brain clinics at Parkwood Institute and will undergo neurocognitive assessment and MRI\u002FPET using the PET ligand FEPPA which binds to activated microglia, a marker of neuroinflammation. Correlations will be conducted to determine whether abnormal neuroinflammation is present in Frontotemporal dementia and whether differential patterns of neuroinflammation are present in different FTD clinical and molecular subtypes, and to determine the relationship between neuroinflammation, cerebral perfusion using arterial spin labeling MRI imaging techniques, and indices of brain structure including volumetric and white matter analysis.",[28],[563,564,565,566,567],"PET","MRI","Inflammation","Microglia","FEPPA","2025-03-04",{"date":570,"type":35},"2025-03-05",{"date":572,"type":35},"2016-08",{"date":574,"type":21},"2029-08",{"name":576,"class":42},"London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's",{"id":578,"slug":579,"hasResults":11,"nctId":580,"briefTitle":581,"officialTitle":581,"acronym":4,"eligibilityCriteria":582,"healthyVolunteers":11,"sex":16,"minAge":583,"maxAge":4,"enrollmentInfo":584,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":586,"conditions":587,"keywords":607,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":612,"lastUpdatePostDateStruct":613,"startDateStruct":615,"completionDateStruct":617,"leadSponsor":619,"locationsCount":74},"100531692","nyscf-scientific-discovery-biobank-100531692","NCT06203106","NYSCF Scientific Discovery Biobank","Inclusion Criteria:\n\n* Age 30 days or older.\n* Diagnosis and\u002For medical history of a condition, disease, genetic background, or trait of interest or healthy control.\n* Adults with decisional capacity must provide written informed consent unless physical limitations preclude signing.\n* Adults without decisional capacity to consent must a have diagnosis of Amyotrophic Lateral Sclerosis (ALS), Alzheimer's Disease and Related Dementias (AD\u002FADRD); Batten Disease, Corticobasal Degeneration (CBD), Dementia, Frontotemporal Dementia (FTD), Huntington Disease, Lewy Body Disease, Multiple Sclerosis, Multiple System Atrophy, Parkinson's Disease (PD), Parkinsonism, and\u002For Progressive Supranuclear Palsy, and must provide assent; a legally authorized representative (LAR) must also provide written informed consent.\n* Minors undergoing skin collection for research purposes must have a condition, disease, genetic background, or trait of interest and parental\u002Fguardian consent.\n* Minors undergoing blood, and\u002For saliva collection for research purposes may have a condition, disease, genetic background, or trait of interest or serve as a healthy control and must have an available parent\u002Fguardian to provide consent.\n* Minors transferring biological samples and associated data from a procedure outside of the research may have a condition, disease, genetic background, or trait of interest or serve as a healthy control and must have an available parent\u002Fguardian to provide consent.\n\nExclusion Criteria:\n\n* Wards of the state.\n* For prospective skin samples: history of keloid formation, coagulation disorder, or allergy to the anesthetic.\n* For prospective blood samples: history of coagulation disorder.\n* For all prospective sample collections: 1) Subjects who refuse to adhere to NYSCF's and\u002For a collection site's safety protocol(s) will be excluded; 2) Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter (mcL) of blood will be excluded due to increased risk of infection.","30 Days",{"count":585,"type":21},10000,"The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and store the samples for future use.\n\nThrough this research, researchers hope to identify future treatments or even cures for the major diseases of our time.",[104,56,107,588,589,590,591,108,28,307,109,115,592,209,593,57,594,595,596,597,598,599,600,601,602,603,604,605,606],"Alzheimer Disease, Early Onset","Alzheimer Disease, Late Onset","Batten Disease","Corticobasal Degeneration","Multiple System Atrophy","Parkinson's Disease and Parkinsonism","INAD","Diabetes","Diabetes Mellitus","Diabetes Mellitus, Type 2","Diabetes Mellitus, Type 1","Macular Degeneration","Ovarian Cancer","Cervical Cancer","Uterine Cancer","Vaginal Cancer","Vulvar Cancer","PTSD","Post Traumatic Stress Disorder",[104,56,107,590,591,108,28,307,109,115,592,209,608,57,594,595,609,610,599,611,600,601,602,603,604,605,606],"Parkinsonism","Diabetes Type 1","Diabetes Type 2","Women's Reproductive Cancer","2025-02-27",{"date":614,"type":35},"2025-03-03",{"date":616,"type":35},"2022-11-10",{"date":618,"type":21},"2045-11-10",{"name":620,"class":42},"New York Stem Cell Foundation Research Institute",{"id":622,"slug":623,"hasResults":11,"nctId":624,"briefTitle":625,"officialTitle":625,"acronym":4,"eligibilityCriteria":626,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":627,"targetDuration":4,"studyType":22,"phases":628,"briefSummary":630,"conditions":631,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":633,"lastUpdatePostDateStruct":634,"startDateStruct":636,"completionDateStruct":638,"leadSponsor":640,"locationsCount":74},"100523246","phase-4-lemborexant-for-insomnia-in-a-patient-with-dementia-an-n-of-1-trial-100523246","NCT06093126","Lemborexant for Insomnia in a Patient With Dementia: An N-of-1 Trial","Inclusion Criteria:\n\n* Identified by clinician investigator to have early-onset dementia and a significant component of insomnia.\n\nExclusion Criteria:\n\n* Known sleep disorders that are contraindications for orexin antagonist therapy.",{"count":74,"type":21},[629],"PHASE4","Insomnia is a highly common, chronic disorder that is distressful for the patient but also for caregivers and can give rise to a heavy burden on the healthcare team. Sleeping aids like benzodiazepines and other sedatives (e.g., zolpidem, zopiclone) have been widely used to help treat insomnia. However, sleeping aids are also known to cause adverse drug reactions such as drowsiness and dizziness, that increases the risk of falls, driving impairment, visual impairment, cognitive impairment, and upon discontinuation may cause paradoxical rebound insomnia, delirium, and nightmares all of which exacerbate the initial insomnia. All of the negative aspects of sleeping aid use are exaggerated for older, frail adults.\n\nSome patients experience an early (young-age) onset dementia with a substantial component of insomnia. Due to the many risks associated with traditional sleeping aids they are often inappropriate in adults living with cognitive impairment and\u002For frailty. Lemborexant comes from a new class of medications for insomnia. Lemborexant is a dual orexin receptor antagonist that blocks the binding of wake-promoting neuropeptides orexin A and orexin B to their receptors orexin 1 receptor (OX1R) and orexin 2 receptor (OX2R), which is thought to suppress wake drive. Unlike other traditional sleeping aids, lemborexant has not shown to be significantly associated with driving impairment, rebound insomnia, or dependence\u002Fwithdrawal symptoms. Also, in clinical trials it only rarely causes the types of adverse events associated with benzodiazepines and other traditional sedatives and is less often associated with discontinuations due to adverse events.\n\nWhile lemborexant is available on the Canadian market it is unclear how this medication will be tolerated by patients living with an early onset dementia. Understanding the effectiveness and tolerability of lemborexant will be helpful in an N of 1 trial to understand the details of effect and effectiveness in individual patients.",[632,108,28],"Insomnia","2025-02-20",{"date":635,"type":35},"2025-02-21",{"date":637,"type":35},"2023-12-11",{"date":639,"type":21},"2028-12-11",{"name":641,"class":42},"Nova Scotia Health Authority",{"id":643,"slug":644,"hasResults":11,"nctId":645,"briefTitle":646,"officialTitle":647,"acronym":4,"eligibilityCriteria":648,"healthyVolunteers":149,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":649,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":650,"conditions":651,"keywords":654,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":659,"lastUpdatePostDateStruct":660,"startDateStruct":662,"completionDateStruct":664,"leadSponsor":666,"locationsCount":74},"100556734","proteinopathies-expression-in-skin-of-neurodegenerative-disorders-100556734","NCT06528964","Proteinopathies Expression in Skin of Neurodegenerative Disorders","Expression of Proteinopathies in Skin Biopsies of Patients With Neurodegenerative Disorders","Inclusion Criteria for patients:\n\n* Patients 45 years and older\n* Men and women\n* Patients diagnosed with Alzheimer's disease, frontotemporal lobe dementia, Parkinson's disease, atypical Parkinsonism, amyotrophic lateral sclerosis or normal pressure hydrocephalus\n* Patients that voluntarily accept to participate in the study and accept the consent form\n\nInclusion Criteria healthy control subjects:\n\n* People 45 years and older\n* Men and women\n* Subjects can be related to a patient but not by blood (for example spouse of a patient)\n* Subjects don't have direct family history of a neurodegenerative control\n* Subjects don't have any clinical findings suggesting dementia\n* Subjects voluntarily accept to participate in the study and accept the consent form\n\nExclusion Criteria:\n\n* Patients or controls that have a personal history of cerebrovascular disease, psychiatric disease, post traumatic dementia or HIV related dementia\n* Patients in which the diagnosis is not clear or hasn't been confirmed\n* Patients or controls that have a neuroinfection\n* Patients or controls that a diagnosed skin disease\n* Patients that have an \"atypical\" presentation of the disease\n* Patients or controls that have diagnosis of a coagulopathy",{"count":558,"type":21},"The goal of this observational study is to compare the aggregation pattern of proteinopathies (alpha-synuclein, amyloid-beta, phosphorylated tau and transactive response DNA -binding protein 43 \\[TDP43\\]) in skin biopsies of patients with a neurodegenerative disease like Alzheimer's disease, frontotemporal lobe dementia, Parkinson's disease, atypical Parkinsonism, amyotrophic lateral sclerosis or normal pressure hydrocephalus. The main question it aims to answer is:\n\n* Is there a specific pattern of aggregation of proteinopathies in skin biopsies in each neurodegenerative disease in comparison to healthy control subjects?\n\nSkin biopsies will be analyzed using immunohistochemistry and immunofluorescence for detection of alpha-synuclein, amyloid-beta, phosphorylated tau and TAR DNA binding protein 43, and the aggregation patterns will be compared between patients with a neurodegenerative disease vs patient with normal pressure hydrocephalus vs healthy control subjects.",[107,28,209,652,56,653],"Atypical Parkinsonism","Normal Pressure Hydrocephalus",[655,656,657,658],"Alpha Synuclein Pathology","Tauopathies","TDP-43 Proteinopathies","Beta-Amyloid","2024-12-13",{"date":661,"type":35},"2024-12-16",{"date":663,"type":35},"2023-12-20",{"date":665,"type":21},"2026-11-01",{"name":667,"class":42},"Universidad Autonoma de San Luis Potosí",{"id":669,"slug":670,"hasResults":11,"nctId":671,"briefTitle":672,"officialTitle":672,"acronym":673,"eligibilityCriteria":674,"healthyVolunteers":149,"sex":16,"minAge":675,"maxAge":4,"enrollmentInfo":676,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":677,"conditions":678,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":680,"lastUpdatePostDateStruct":681,"startDateStruct":683,"completionDateStruct":685,"leadSponsor":687,"locationsCount":74},"100371332","longitudinal-cognitive-assessment-by-boca-100371332","NCT04114994","Longitudinal Cognitive Assessment by BoCA","BoCA","Inclusion Criteria:\n\nage 50 or older\n\nExclusion Criteria:\n\nyounger than 50 years","50 Years",{"count":585,"type":21},"The Boston Cognitive Assessment (BoCA) is a self-administered online test intended for longitudinal cognitive monitoring. BoCA uses random not-repeating tasks to minimize learning effects. BoCA was developed to evaluate the effects of treatment in longitudinal clinical trials and available gratis to individuals and professionals.",[107,305,210,28,209,115,679],"TBI","2024-07-31",{"date":682,"type":35},"2024-08-01",{"date":684,"type":35},"2019-10-01",{"date":686,"type":21},"2029-10-01",{"name":688,"class":128},"Alzheimer's Light LLC",{"id":690,"slug":691,"hasResults":11,"nctId":692,"briefTitle":693,"officialTitle":694,"acronym":695,"eligibilityCriteria":696,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":697,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":698,"conditions":699,"keywords":701,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":704,"lastUpdatePostDateStruct":705,"startDateStruct":707,"completionDateStruct":709,"leadSponsor":710,"locationsCount":74},"100427288","cerebro-spinal-fluid-collection-csf-100427288","NCT04844060","Cerebro Spinal Fluid Collection (CSF)","Analysis of Clinical Data and Diagnosis in Any Person Requiring an Assay of Alzheimer Biomarkers in Cerebrospinal Fluid","Analzheimer","Inclusion Criteria:\n\n* Patients with lumbar puncture (LP)\n* Patients with accurate clinical diagnosis\n\nExclusion Criteria:\n\n* Patients who do not have a lumbar puncture\n* Patients for whom no accurate diagnostic information is available",{"count":585,"type":21},"Cognitive neurodegenerative diseases are a major public health issue. At present, the diagnosis of certainty is still based on anatomopathological analyses. Even if the diagnostic tools available to clinicians have made it possible to improve probabilistic diagnosis during the patient's lifetime, there are still too many diagnostic errors and sub-diagnostic in this field. The arrival of biomarkers has made it possible to reduce these diagnostic errors, which were of the order of 25 to 30%. This high error rate is due to different parameters. These diseases are numerous and often present common symptoms due to the fact that common brain structures are affected. These diseases evolve progressively over several years and their early diagnosis, when the symptoms are discrete, makes them even more difficult to diagnose at this stage. In addition, co-morbidities are common in the elderly, further complicating the diagnosis of these diseases.\n\nAt present, the only cerebrospinal fluid (CSF) biomarkers that are routinely used for the biological diagnosis of neurodegenerative cognitive pathologies are those specific to Alzheimer's disease: Aβ42, Aβ40, Tau-total and Phospho-Tau. These biomarkers represent an almost indispensable tool in the diagnosis of dementia.\n\nIt is therefore important to determine whether Alzheimer's biomarkers can be disrupted in other neurodegenerative cognitive pathologies, but also to find biomarkers specific to these different pathologies by facilitating the implementation of clinical studies which will thus make it possible to improve their diagnosis.",[107,349,28,700,592],"Parkinson's Disease Dementia",[702,703],"CSF library","Database of patients with cognitive disorders","2023-04-26",{"date":706,"type":35},"2023-04-27",{"date":708,"type":35},"2010-02",{"date":471,"type":21},{"name":711,"class":42},"University Hospital, Strasbourg, France"]