[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cadasil\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cadasil":88},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,12,0,[8,73,108,138,171,197,221,315,336,360,387,408],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":53,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":72},"100270060","neurologic-stem-cell-treatment-study-100270060",false,"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.","ALL","18 Years",{"count":20,"type":21},500,"ESTIMATED","INTERVENTIONAL",[24],"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",[27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52],"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","Progressive Supranuclear Palsy","ALS","Amyotrophic Lateral Sclerosis","Neuropathy","Diabetic Neuropathies","Alzheimer Disease","Dementia","Frontotemporal Dementia","Lewy Body Disease","Cognitive Impairment","Lewy Body Variant of Alzheimer Disease",[54,55,31,32,56,57,45,58,36,51,48,59],"Neurologic Disease","Cerebral Vascular Accident","Multiple Sclerosis","Parkinsons Disease","Diabetic Neuropathy","Neurodegeneration","RECRUITING","2026-06-24",{"date":63,"type":64},"2026-06-26","ACTUAL",{"date":66,"type":64},"2016-06",{"date":68,"type":21},"2028-07-31",{"name":70,"class":71},"MD Stem Cells","INDUSTRY",3,{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":79,"eligibilityCriteria":80,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":22,"phases":85,"briefSummary":86,"conditions":87,"keywords":92,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":98,"lastUpdatePostDateStruct":99,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":4},"100641709","biological-collection-of-the-rare-diseases-of-the-brain-and-eye-vessels-cohort---2-100641709","NCT07650110","Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2","Collection Biologique de la Cohorte Des Maladies Rares Des Vaisseaux du Cerveau et de l'œil - 2","B-MRVC2","Inclusion Criteria:\n\nFor the group of patients with MVCR:\n\n* Patients aged between 18 and 80 years at the time of inclusion\n* Diagnosis confirmed by the detection of a pathogenic mutation in the NOTCH3 gene characteristic of CADASIL, or in another gene responsible for other forms of monogenic cSVD (such as the COL4A1, COL4A2 and HTRA1 genes) or a confirmed diagnosis of MOYA-MOYA (arteriography and\u002For genetic testing) or cavernoma, cerebral venous thrombosis or a cerebral vascular malformation, including cavernomas\n* Covered by social security or an equivalent scheme\n* Written consent.\n* Patient included in the MVCR cohort For control group\n* Subject aged between 18 and 80 at the time of inclusion.\n* Written consent.\n* Blood pressure \\\u003C 140\u002F90 mmHg without treatment or \\\u003C 130\u002F80 mmHg if treated and stable for ≥3 months\n* Covered by social security or a similar scheme\n* Strictly normal neurological examination (NIHSS=0; no focal deficit)\n* Normal cognitive examination: MMSE ≥ 26\n\nExclusion criteria :\n\nCommon exclusion criteria for patients and control subjects:\n\n* A person referred to in Articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the Public Health Code, defined as:\n\n  * Pregnant women, women in labour or breastfeeding women\n  * Persons deprived of their liberty by judicial or administrative decision\n  * Persons hospitalised without consent and not subject to a legal protection measure, and persons admitted to a health or social care facility for purposes other than research\n  * Minors\n  * Adults subject to a legal protection measure (guardianship, curatorship or judicial protection), adults unable to give consent and not subject to a legal protection measure\n* Individuals subject to a withdrawal period for another research study\n* Patients participating in another interventional research study\n* Acute or chronic infectious disease\n\nSpecific exclusion criteria for control subjects\n\n* Any identified extra- or intracranial vascular pathology requiring specific management\n* Known cardiovascular disease (coronary artery disease, arterial disease, atrial fibrillation, heart failure)\n* Neurological history: stroke, TIA, intracranial haemorrhage, meningitis\u002Fencephalitis, head injury with loss of consciousness \\>30 mins,\n* Multiple sclerosis, neurodegenerative disease, active epilepsy,\n* Current or former smoking (more than 10 pack-years)\n* Diabetes\n* Antithrombotic or lipid-lowering treatment",true,"80 Years",{"count":84,"type":21},600,[24],"CERVCO is the French National Reference Centre for Rare Cerebrovascular and Retinal Diseases, accredited by the Ministry of Health since 2005. Since 2017, CERVCO has coordinated the MRVC cohort, a prospective cohort of patients with rare vascular diseases of the brain and retina, and established the associated B-MRVC biobank in 2020 to support translational research and biomarker discovery.\n\nDue to the rarity and heterogeneity of these disorders, centralized longitudinal collection of clinical data and biological samples is essential to improve understanding of disease mechanisms, identify biomarkers of progression and prognosis, and facilitate the development of new diagnostic and therapeutic approaches.\n\nThe present study aims to expand this longitudinal biobank, enable national and international collaborative research through controlled sample sharing, and establish reference control samples to support biomarker validation.",[88,89,90,91],"CADASIL","Cavernous Angioma","Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy","Small Vessel Disease",[93,33,94,95,89,96],"Brain Small Vessel Disease","Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy","Central Nervous System Vascular Malformations","Central Nervous System","NOT_YET_RECRUITING","2026-06-10",{"date":100,"type":64},"2026-06-16",{"date":102,"type":21},"2026-06-30",{"date":104,"type":21},"2038-06-30",{"name":106,"class":107},"Assistance Publique - Hôpitaux de Paris","OTHER",{"id":109,"slug":110,"hasResults":11,"nctId":111,"briefTitle":112,"officialTitle":113,"acronym":114,"eligibilityCriteria":115,"healthyVolunteers":11,"sex":17,"minAge":116,"maxAge":4,"enrollmentInfo":117,"targetDuration":118,"studyType":119,"phases":4,"briefSummary":120,"conditions":121,"keywords":123,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":128,"lastUpdatePostDateStruct":129,"startDateStruct":131,"completionDateStruct":133,"leadSponsor":135,"locationsCount":137},"100631222","long-term-prospective-study-of-korean-cadasil-patients-100631222","NCT07497867","Long-term Prospective Study of Korean CADASIL Patients","Long-term Prognosis of Korean Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy(CADASIL) Patients: A Multicenter Prospective Study","K-CADASIL","Inclusion Criteria:\n\n* Age ≥ 19 years\n* CADASIL suspected or confirmed by genetic testing (NOTCH3 mutation)\n* Able to provide written informed consent (participant or legally authorized representative)\n\nExclusion Criteria:\n\n* Contraindication to MRI (claustrophobia, metal implants, pacemaker)\n* Acute ischemic or hemorrhagic stroke within 180 days prior to enrollment","19 Years",{"count":20,"type":21},"10 Years","OBSERVATIONAL","K-CADASIL is a 10-year prospective study of 500 Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic brain disease that causes stroke and dementia. The investigators will track symptoms, brain scans, memory tests, and gene information to understand disease progression in Koreans and identify better treatments. Participants will visit clinics regularly for check-ups and blood tests. This study aims to help improve care for CADASIL patients and families worldwide.",[88,122],"Cerebral Autosomal Dominant Arteriopatie With Subcortical Infarcts and Leukoencephalopathy",[88,124,31,125,126,127],"NOTCH3","Cerebral Small Vessel Disease","Prospective Study","Korea","2026-05-11",{"date":130,"type":64},"2026-05-14",{"date":132,"type":64},"2023-07-10",{"date":134,"type":21},"2040-12-31",{"name":136,"class":107},"Jeju National University Hospital",1,{"id":139,"slug":140,"hasResults":11,"nctId":141,"briefTitle":142,"officialTitle":142,"acronym":143,"eligibilityCriteria":144,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":145,"targetDuration":4,"studyType":119,"phases":4,"briefSummary":146,"conditions":147,"keywords":155,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":161,"lastUpdatePostDateStruct":162,"startDateStruct":164,"completionDateStruct":166,"leadSponsor":168,"locationsCount":170},"100587991","rare-but-not-alone-a-large-italian-network-to-empower-the-impervious-diagnostic-pathway-of-rare-cerebrovascular-diseases-aligned-100587991","NCT06935578","RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)","ALIGNED","Inclusion Criteria:\n\n* patients with a clinical, genetic and\u002For neuroradiological diagnosis of rCVD (CADASIL, Fabry's disease, COL4A1, Sneddon's syndrome or Moyamoya arteriopathy), who have had at least one brain MRI study;\n\nExclusion Criteria:\n\n* na",{"count":20,"type":21},"Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strokes. However, rCVDs are often misdiagnosed since clinicians are not able to recognize them. Although rare, the identification of these stroke causes is important to establish appropriate management measures, including genetic counselling, and, if available, therapy. The lack of data on phenotype and clinical course of rCVDs, given the paucity of published series, makes the diagnosis and the development of therapies challenging. Furthermore, the molecular characterization of rCVDs is still lacking, despite progresses achieved in common stroke by applying high throughput approaches as multi-omics. Since the diagnosis and care of rCVDs require adequate expertise and instrumental tools, clinical and research activities are usually reserved to few specialized centers, mostly located in the North of Italy, leading patients to expensive trips for consultations. Therefore, the creation of a clinical and research network aimed at improving the diagnostic pathways of rCVDs is highly needed to improve the number of patients with rCVDs to better define the clinical phenotype and to transfer the knowledge on rCVDs in other centers overall Italy filling the geographical gap affecting Southern Italy.",[88,148,149,150,151,152,153,154],"CADASIL (Diagnosis)","Moya Moya Disease","Moyamoya","Moyamoya Syndrome","Sneddon Syndrome","Fabry Disease","COL4A1\\2",[156,157,88,158,153,152,159,160],"Rare Cerebrovascular Diseases","italian network","COL4A1 syndrome","Moyamoya arteriopathy","COL4A1\u002F2","2026-02-23",{"date":163,"type":64},"2026-02-24",{"date":165,"type":64},"2023-05-01",{"date":167,"type":21},"2026-05-19",{"name":169,"class":107},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta",17,{"id":172,"slug":173,"hasResults":11,"nctId":174,"briefTitle":175,"officialTitle":176,"acronym":177,"eligibilityCriteria":178,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":179,"targetDuration":180,"studyType":119,"phases":4,"briefSummary":181,"conditions":182,"keywords":4,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":191,"completionDateStruct":193,"leadSponsor":195,"locationsCount":137},"100475646","taiwan-associated-genetic-and-nongenetic-small-vessel-disease-100475646","NCT05473637","Taiwan Associated Genetic and Nongenetic Small Vessel Disease","Deciphering, Construction and Validation of Magnetic Resonance Imaging Maps, Clinical Features and Outcomes in Genetic and Nongenetic Cerebral Small Vessel Diseases","TAG-SVD","Inclusion Criteria:\n\nParticipants must have at least one of the following symptoms\u002Fsigns or history\n\n* stroke (especially small vessel occlusion type of ischaemic stroke, spontaneous ICH or young stroke)\n* cognitive impairment or dementia\n* gait disturbance\n* parkinsonism (especially vascular parkinsonism features)\n* headache (especially migraine)\n* positive family history of hereditary CSVD\n* MRI evidence of CSVD (MRI may be done for other reasons), including mild to moderate white matter hyper intensity, any lacune, or any cerebral microbleed\n\nExclusion Criteria:\n\n* MRI evidence of CSVD due to other inflammatory, malignancy, or structural lesions\n* patients or family members not willing to sign informed consent",{"count":20,"type":21},"2 Years","The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.",[183,33,184,185,153,186,187,31],"Cerebral Small Vessel Diseases","HTRA1-Related Autosomal Dominant Cerebral Angiopathy","COL4A1-Related Brain Small Vessel Disease With Haemorrhage","Magnetic Resonance Imaging","Next-generation Sequencing","2026-01-15",{"date":190,"type":64},"2026-01-20",{"date":192,"type":64},"2019-01-01",{"date":194,"type":21},"2028-12-31",{"name":196,"class":107},"National Taiwan University Hospital",{"id":198,"slug":199,"hasResults":11,"nctId":200,"briefTitle":201,"officialTitle":202,"acronym":4,"eligibilityCriteria":203,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":204,"targetDuration":4,"studyType":119,"phases":4,"briefSummary":206,"conditions":207,"keywords":208,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":213,"lastUpdatePostDateStruct":214,"startDateStruct":215,"completionDateStruct":217,"leadSponsor":219,"locationsCount":5},"100491342","cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil-study-100491342","NCT05677880","Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study","Unraveling the Early Phases of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)","Inclusion Criteria for CADASIL Participants:\n\n1. Must be at least 18 years old\n2. Positive NOTCH3 genetic testing; OR a positive skin biopsy; OR a willingness to have a NOTCH3 genetic test completed prior to enrolling AND are at-risk for, or diagnosed clinically with, CADASIL\n3. Willing to commit to three in-person visits (a baseline visit, an 18-month follow-up, and a 36-month follow-up) and to remote visits as needed by phone, email, mail or internet\n4. Willing to provide documentation of all current medications to study team\n\n   a. All medications will be allowed throughout the course of study. Documentation of medications will be used for analyses to assess potential impact of medications on study outcomes.\n5. Willing and able to undergo an MRI scan and blood draw at each in-person visit\n6. Must have a designated \"study companion\"\n\n   a. A \"study companion\" is someone who knows the participant well (has greater than or equal to 3 hours\u002Fmonth of contact with the CADASIL participant) and can provide additional information to the study team (either remotely or in-person).\n7. A functional capacity less than 4 on the Modified Rankin Scale\n\nInclusion Criteria for Healthy Controls (HC):\n\n1\\. Must meet same criteria as CADASIL participants, EXCEPT have negative NOTCH3 genetic testing\n\nExclusion Criteria:\n\n1. History of severe learning disability, intellectual disability, or other neurological disease or event not attributable to CADASIL\n2. History of serious alcohol or drug abuse within the past year\n3. Unwilling to undergo NOTCH3 genetic testing if there is no test on file",{"count":205,"type":21},660,"This is an observational study to better understand the risk factors and progression of CADASIL, a leading cause of vascular cognitive impairment and dementia (VCID). 575 participants will be enrolled and can expect to be on study for up to 5 years.",[88],[209,210,211,124,212],"neurodegeneration","dementia","cognitive impairment","vascular dementia","2026-01-14",{"date":188,"type":64},{"date":216,"type":64},"2022-06-03",{"date":218,"type":21},"2027-08",{"name":220,"class":107},"University of Wisconsin, Madison",{"id":222,"slug":223,"hasResults":11,"nctId":224,"briefTitle":225,"officialTitle":226,"acronym":227,"eligibilityCriteria":228,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":229,"targetDuration":118,"studyType":119,"phases":4,"briefSummary":231,"conditions":232,"keywords":298,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":305,"lastUpdatePostDateStruct":306,"startDateStruct":308,"completionDateStruct":310,"leadSponsor":312,"locationsCount":314},"100289408","the-myelin-disorders-biorepository-project-100289408","NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.",{"count":230,"type":21},12000,"The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[233,234,235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,33,289,290,291,292,293,294,295,296,297],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","Krabbe Disease","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","MLD","Metachromatic Leukodystrophy","PMD","Pelizaeus-Merzbacher Disease","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Vanishing White Matter Disease","Charcot-Marie-Tooth","CMT","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Allan-Herndon-Dudley Syndrome","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[299,300,301,302,303,304],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":307,"type":64},"2025-10-23",{"date":309,"type":64},"2016-12-08",{"date":311,"type":21},"2030-12-08",{"name":313,"class":107},"Children's Hospital of Philadelphia",23,{"id":316,"slug":317,"hasResults":11,"nctId":318,"briefTitle":319,"officialTitle":319,"acronym":320,"eligibilityCriteria":321,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":322,"targetDuration":4,"studyType":119,"phases":4,"briefSummary":324,"conditions":325,"keywords":326,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":327,"lastUpdatePostDateStruct":328,"startDateStruct":330,"completionDateStruct":332,"leadSponsor":334,"locationsCount":335},"100588184","genotype-clinical-features-and-imaging-of-neuroradiological-abnormalities-in-cadasil-100588184","NCT06938100","Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL","GENICa","Inclusion criteria:\n\n* patients of either sex older than 18 years of age;\n* finding of a pathogenic mutation on genetic analysis of NOTCH3;\n* in the absence of unambiguous mutation, presence of characteristic deposits (GOM) within small vessels at skin biopsy\n\nExclusion criteria:\n\n* do not meet the diagnostic criteria of CADASIL;\n* are unable to give consent for the study due to aphasic or cognitive impairment or because they are deceased at the time of enrollment and their next of kin refuse to give consent for study participation.",{"count":323,"type":21},100,"The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific neuroradiological and biological markers\n\n\\- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.",[88,148],[88,124],"2025-04-14",{"date":329,"type":64},"2025-04-22",{"date":331,"type":64},"2023-11-21",{"date":333,"type":21},"2027-10-31",{"name":169,"class":107},2,{"id":337,"slug":338,"hasResults":11,"nctId":339,"briefTitle":340,"officialTitle":341,"acronym":342,"eligibilityCriteria":343,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":82,"enrollmentInfo":344,"targetDuration":4,"studyType":119,"phases":4,"briefSummary":346,"conditions":347,"keywords":348,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":352,"lastUpdatePostDateStruct":353,"startDateStruct":355,"completionDateStruct":357,"leadSponsor":359,"locationsCount":4},"100582157","development-and-validation-of-a-functional-mri-biomarker-of-cerebral-small-vessel-dysfunction-in-cadasil-100582157","NCT06859658","Development and Validation of a Functional MRI Biomarker of Cerebral Small Vessel Dysfunction in CADASIL","Développement et Validation d'un Biomarqueur en IRM Fonctionnelle de la Dysfonction Des Petits Vaisseaux cérébraux Dans la Maladie de CADASIL","fMRI BioSVD","Inclusion criteria :\n\nFor CADASIL patients\n\n* Age between 18 and 80 at the time of inclusion\n* Diagnosis confirmed by detection of a pathogenic mutation in the NOTCH3 gene characteristic of CADASIL.\n* Beneficiaries of a health insurance.\n* Written consent.\n\nFor controls:\n\n* Age between 18 and 80 at the time of inclusion\n* Beneficiary of a health insurance.\n* Written consent\n\nExclusion criteria :\n\nFor patients\n\n* Contraindication to MRI examination\n* Disability: Rankin score ≥ 4\n* Moderate to severe dementia according to DSM 5 criteria or MMSE score ≤ 19\n* Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by :\n\n  * Pregnant, parturient or breast-feeding woman\n  * Person deprived of liberty by judicial or administrative decision.\n  * Persons hospitalized without consent and not under legal protection, and persons admitted to a health or social establishment for purposes other than research.\n  * Minor\n  * Person of full age subject to a legal protection measure (guardianship, curatorship or safeguard of justice), person of full age unable to give consent and not subject to a protection measure.\n* Person subject to a period of exclusion for another research project\n\nFor controls :\n\n* Contraindication to MRI examination\n* Known cognitive complaint or deficit\n* Presence of significant disability (mRS \\>1)\n* Focal neurological motor, sensory or visual deficit on clinical examination that may impair visual or motor stimulation tests\n* History of neurological or psychiatric disease\n* History of migraine attacks with aura\n* Vascular history (known disease of peripheral arteries, heart or brain)\n* Known or treated diabetes\n* Known or treated hypercholesterolemia\n* Known or treated hypertension\n* Active smoking or smoking cessation within the last year\n* Regular alcohol consumption corresponding to \\> 2 glasses\u002Fday for men and 1 glass\u002Fday for women in wine equivalent\n* Treatment likely to interfere with neurovascular coupling (in particular any treatment with non-steroidal anti-inflammatory drugs, psychotropic drug(s), antihypertensive drug(s) or statins)\n* Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by :\n\n  * Pregnant, parturient or breast-feeding woman\n  * Person deprived of liberty by judicial or administrative decision\n  * Persons hospitalized without consent and not under legal protection, and persons admitted to a health or social institution for purposes other than research.\n  * Minor\n  * Person of full age subject to a legal protection measure (guardianship, curatorship or safeguard of justice), person of full age unable to give consent and not subject to a protection measure.\n  * Person subject to a period of exclusion for another research project",{"count":345,"type":21},70,"Cerebral small vessel diseases (cSVD) are diseases of brain tissue involving vessels (arterioles or capillaries) with a diameter of less than 400 microns. Within this group, CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is the most common familial form. CADASIL is due to mutations in the NOTCH3 gene located on chromosome 19. It is considered a unique model for the study of cSVD. CADASIL begins between the ages of 20 and 40, with the appearance of cerebral white matter hyper-signals visible on MRI. Before the age of 30, patients are usually asymptomatic. To date, there are no available treatments. To test new therapeutic approaches, we need biomarkers that are robust and sensitive enough to assess the effects of these treatments at an early stage of cSVD and over a relatively short period of time.\n\nAn ideal monitoring biomarker should be repeatedly and safely usable, easily accessible, accurate, reproducible and sensitive to disease progression or pharmacological intervention.\n\nAlterations in neurovascular coupling (NVC) have been recognized as one of the earliest functional alterations occurring during cSVD. Cerebral functional magnetic resonance imaging (fMRI) is a brain imaging technique that measures the activity of brain areas in vivo by detecting local changes in blood flow. An important advantage of blood oxygen level-dependent functional MRI is that it enables the NVC to be probed in vivo, safely and repeatedly in humans.\n\nOur central hypothesis is that functional MRI can provide such a biomarker for monitoring CNV disease progression in vivo using a dedicated fMRI protocol that can be used on a clinical MRI scanner, is reproducible and varies according to the severity of brain MRI lesions and\u002For clinical manifestations in CADASIL. A functional imaging study coupled with electroencephalogram has already revealed changes in the hemodynamic response to visual or motor stimuli in patients at the early stage of the disease. This study is exploring new imaging protocols to focus on the purest vascular response.",[88],[349,183,350,88,351],"fMRI","Neurovascular coupling","Biomarkers","2025-02-28",{"date":354,"type":64},"2025-03-05",{"date":356,"type":21},"2025-04-01",{"date":358,"type":21},"2029-04-01",{"name":106,"class":107},{"id":361,"slug":362,"hasResults":11,"nctId":363,"briefTitle":364,"officialTitle":364,"acronym":4,"eligibilityCriteria":365,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":366,"targetDuration":4,"studyType":119,"phases":4,"briefSummary":368,"conditions":369,"keywords":370,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":377,"lastUpdatePostDateStruct":378,"startDateStruct":380,"completionDateStruct":382,"leadSponsor":384,"locationsCount":386},"100527460","auscadasil-an-australian-cohort-of-cadasil-100527460","NCT06148051","AusCADASIL: An Australian Cohort of CADASIL","Inclusion criteria:\n\n1. Adults ≥18 years old\n2. Ability to provide written informed consent\n\n   * A large-print version is available for individuals with visual impairment\n   * An easy-to-read version is available for individuals with cognitive difficulties who may require extra support\n3. Ability to attend a testing site\n4. Ability to complete minimum dataset (medical examination and medical history questionnaire, blood test to determine genetic status and a short (20 minute) neuropsychology assessment).\n5. CADASIL participants according to one of the following categories:\n\n   1. confirmed diagnosis via genetic testing (NOTCH3 pathogenic variant), OR\n   2. suspected diagnosis based on medical history and brain MRI, OR\n   3. first degree relative of participant who is positive for NOTCH3 pathogenic variant\n\nOR 6. Unrelated individual who is negative for the NOTCH3 pathogenic variant, and has no cognitive complaints (i.e. control participant)\n\nExclusion criteria:\n\n1\\. Significant cognitive impairment leading to an inability to provide informed consent.",{"count":367,"type":21},300,"The aim of this project is to establish an Australian cohort of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). This study will examine the clinical features and longitudinal course of CADASIL. Outcome measures include neuropsychological profile, neuroimaging, genetics, blood biomarkers, and retinal imaging.",[33],[88,371,372,373,374,375,376],"Clinical Research","Genetics","Cognition","Neuroimaging","Blood markers","Retinal imaging","2024-05-07",{"date":379,"type":64},"2024-05-08",{"date":381,"type":64},"2023-11-25",{"date":383,"type":21},"2027-03-31",{"name":385,"class":107},"Perminder Sachdev",5,{"id":388,"slug":389,"hasResults":11,"nctId":390,"briefTitle":391,"officialTitle":392,"acronym":4,"eligibilityCriteria":393,"healthyVolunteers":81,"sex":17,"minAge":18,"maxAge":394,"enrollmentInfo":395,"targetDuration":4,"studyType":119,"phases":4,"briefSummary":397,"conditions":398,"keywords":4,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":399,"lastUpdatePostDateStruct":400,"startDateStruct":402,"completionDateStruct":404,"leadSponsor":406,"locationsCount":137},"100386313","cadasil-registry-study-100386313","NCT04310098","CADASIL Registry Study","Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study","Inclusion Criteria:\n\n1. Sign informed consent.\n2. Age\\>18\n3. Clinical diagnosis of patients with CADASIL,and confirmed by genetic test or skin biopsy\n4. Asymptomatic NOTCH3 mutation carriers\n5. Relatives of CADASIL patients or carriers\n6. Unrelated healthy controls\n\nExclusion Criteria:\n\n1. Unable to cooperate with inspectors\n2. Serious systemic illness, such as heart, liver, kidney disease or major mental illness\n3. Contraindications for imaging examination","85 Years",{"count":396,"type":21},1000,"The aim of this study is to determine the clinical spectrum and natural progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and related disorders in a prospective multicenter study, to assess the clinical, genetic and epigenetic features of patients with CADASIL , to optimize clinical management.",[33],"2023-09-26",{"date":401,"type":64},"2023-09-28",{"date":403,"type":64},"2020-03-09",{"date":405,"type":21},"2049-03-09",{"name":407,"class":107},"Bin Cai",{"id":409,"slug":410,"hasResults":11,"nctId":411,"briefTitle":412,"officialTitle":413,"acronym":414,"eligibilityCriteria":415,"healthyVolunteers":11,"sex":17,"minAge":416,"maxAge":4,"enrollmentInfo":417,"targetDuration":419,"studyType":119,"phases":4,"briefSummary":420,"conditions":421,"keywords":425,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":431,"lastUpdatePostDateStruct":432,"startDateStruct":434,"completionDateStruct":436,"leadSponsor":438,"locationsCount":137},"100495682","prognosis-of-cerebral-small-vessel-disease-100495682","NCT05734378","Prognosis of Cerebral Small Vessel Disease","Prognosis of Cerebral Small Vessel Disease - a Prospective Cohort Study (PRO-SVD)","PRO-SVD","Inclusion Criteria:\n\n* Hypertensive deep perforator arteriolopathy (DPA), clinically symptomatic with either ICH, ischaemic stroke, cognitive impairment or severe radiological manifestation (Fazekas ≥II)\n* Cerebral amyloid angiopathy (CAA according to modified Boston or Edinburgh criteria), clinically symptomatic with either ICH (including cSAH), amyloid spells, cognitive impairment or severe radiological manifestation (CMB≥2)\n* Other SVD (i.e. CADASIL or other sporadic or genetic SVD)\n\nExclusion Criteria:\n\n* Life expectancy of \\\u003C6 months due to not-SVD related causes (i.e. cancer)\n* Patient is unlikely to attend follow-up visits","16 Years",{"count":418,"type":21},900,"1 Year","Prognosis of small vessel disease (SVD) depends on the underlying type of SVD and index manifestation.\n\nThe aim of this prospective, observational cohort study is to determine the risk of different outcome events among patients with SVD according to the type of index presentation.",[422,423,33,424],"Cerebral Amyloid Angiopathy","Small Vessel Cerebrovascular Disease","CAA - Cerebral Amyloid Angiopathy",[426,427,428,429,430,88],"small vessel disease","CAA","cerebral amyloid angiopathy","hypertensive arteriopathy","deep perforator arteriopathy","2023-03-06",{"date":433,"type":64},"2023-03-08",{"date":435,"type":64},"2020-12-01",{"date":437,"type":21},"2030-11-30",{"name":439,"class":107},"Insel Gruppe AG, University Hospital Bern"]