[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"col4a12\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:col4a12":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,51],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":32,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":50},"100587991","rare-but-not-alone-a-large-italian-network-to-empower-the-impervious-diagnostic-pathway-of-rare-cerebrovascular-diseases-aligned-100587991",false,"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","ALL","18 Years",{"count":19,"type":20},500,"ESTIMATED","OBSERVATIONAL","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.",[24,25,26,27,28,29,30,31],"CADASIL","CADASIL (Diagnosis)","Moya Moya Disease","Moyamoya","Moyamoya Syndrome","Sneddon Syndrome","Fabry Disease","COL4A1\\2",[33,34,24,35,30,29,36,37],"Rare Cerebrovascular Diseases","italian network","COL4A1 syndrome","Moyamoya arteriopathy","COL4A1\u002F2","RECRUITING","2026-02-23",{"date":41,"type":42},"2026-02-24","ACTUAL",{"date":44,"type":42},"2023-05-01",{"date":46,"type":20},"2026-05-19",{"name":48,"class":49},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta","OTHER",17,{"id":52,"slug":53,"hasResults":11,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":4,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":58,"targetDuration":4,"studyType":60,"phases":61,"briefSummary":63,"conditions":64,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":75},"100621768","col4a1col4a2-study-of-pathological-conditions-involving-multiple-organs-caused-by-mutations-in-the-col4a1-and-col4a2-genes-100621768","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.",{"count":59,"type":20},120,"INTERVENTIONAL",[62],"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.",[31,65],"COL4A1-Related Brain Small Vessel Disease With Haemorrhage","2026-01-28",{"date":68,"type":42},"2026-01-30",{"date":70,"type":42},"2021-05-01",{"date":72,"type":20},"2026-12",{"name":74,"class":49},"Meyer Children's Hospital IRCCS",1]