[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"col4a1-related-brain-small-vessel-disease-with-haemorrhage\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:col4a1-related-brain-small-vessel-disease-with-haemorrhage":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,40],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":21,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100621768","col4a1col4a2-study-of-pathological-conditions-involving-multiple-organs-caused-by-mutations-in-the-col4a1-and-col4a2-genes-100621768",false,"NCT07374913","COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes","Study of the Familial Phenotype Associated With Mutations in the COL4A1 and COL4A2 Genes","Inclusion Criteria:\n\n* Individuals (pediatric or adult) with a pathogenic or likely pathogenic mutation in the COL4A1 or COL4A2 genes and a clinical phenotype consistent with small vessel disease.\n* Adult first-degree family members (parents, siblings, or children) who are confirmed carriers or suspected carriers of the same COL4A1\u002FCOL4A2 mutation.\n* Adult first-degree family members who are non-carriers of the pathogenic mutation and who agree to provide a blood sample to be used as controls for laboratory analyses.\n* Ability to provide written informed consent; for minors, consent provided by a parent or legal guardian.\n\nExclusion Criteria:\n\n* Refusal or inability to provide informed consent.\n* Individuals who do not meet the inclusion criteria above.\n* Any condition that, in the opinion of the investigators, would preclude participation in study procedures or reliable data collection.","ALL",{"count":18,"type":19},120,"ESTIMATED","INTERVENTIONAL",[22],"NA","This observational and diagnostic study aims to better understand the clinical features and biological mechanisms associated with mutations in the COL4A1 and COL4A2 genes, which are known to cause a rare inherited small-vessel disease affecting the brain and other organs. These mutations can lead to a wide range of symptoms involving the brain, eyes, heart, blood vessels, kidneys, and muscles, and affected individuals within the same family may show very different clinical manifestations.\n\nThe study will systematically collect clinical and diagnostic information from individuals with confirmed COL4A1\u002FCOL4A2 mutations and their first-degree family members, including both affected and unaffected relatives. Family members who carry, or may carry, the mutation will be offered non-invasive eye and heart examinations to detect early or previously unrecognized organ involvement.\n\nIn addition, blood samples will be analyzed to study the activity of specific enzymes called matrix metalloproteinases (MMP2 and MMP9), which are thought to play a role in blood vessel damage in this condition. By linking genetic findings, clinical features, and laboratory data, the study seeks to clarify how these mutations cause disease and to identify early signs of organ involvement.\n\nThe overall goal of the study is to improve early diagnosis, guide the development of routine multi-organ screening strategies for affected individuals and families, and support future research toward targeted treatments.",[25,26],"COL4A1\\2","COL4A1-Related Brain Small Vessel Disease With Haemorrhage","RECRUITING","2026-01-28",{"date":30,"type":31},"2026-01-30","ACTUAL",{"date":33,"type":31},"2021-05-01",{"date":35,"type":19},"2026-12",{"name":37,"class":38},"Meyer Children's Hospital IRCCS","OTHER",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":48,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":50,"targetDuration":52,"studyType":53,"phases":4,"briefSummary":54,"conditions":55,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":63,"lastUpdatePostDateStruct":64,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":39},"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",true,"18 Years",{"count":51,"type":19},500,"2 Years","OBSERVATIONAL","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.",[56,57,58,26,59,60,61,62],"Cerebral Small Vessel Diseases","Cadasil","HTRA1-Related Autosomal Dominant Cerebral Angiopathy","Fabry Disease","Magnetic Resonance Imaging","Next-generation Sequencing","Stroke","2026-01-15",{"date":65,"type":31},"2026-01-20",{"date":67,"type":31},"2019-01-01",{"date":69,"type":19},"2028-12-31",{"name":71,"class":38},"National Taiwan University Hospital"]