[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"vascular-anomalies\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:vascular-anomalies":33},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,47,93,147],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100576793","phase-2-a-phase-2-study-of-mutant-selective-pi3k-inhibitor-rly-2608-in-adults-and-children-with-pik3ca-related-overgrowth-spectrum-and-malformations-driven-by-pik3ca-mutation-the-reinspire-study-100576793",false,"NCT06789913","A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)","A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation","Key Inclusion Criteria:\n\n* The participant must have a clinical diagnosis of PROS or a malformation within the ISSVA classification.\n* One or more documented activating PIK3CA mutation(s) that are targeted by selective PI3Kα inhibitors in lesional tissue and\u002For cell-free DNA from the lesion or blood. Some participants may be eligible without a documented PIK3CA mutation, with the sponsor's approval, as long as no other genetic driver has been documented.\n* Lansky (\\\u003C16 yo) or Karnofsky (≥16 yo) performance status of ≥50.\n* Agree to provide archived lesional fluid and\u002For tissue or be willing to undergo pretreatment lesional biopsy (if considered safe and medically feasible) to assess PIK3CA status.\n\nKey Exclusion Criteria:\n\n* Known hypersensitivity to RLY-2608.\n* Any factors that increase the risk of QTc prolongation or risk of arrhythmic events\n* Clinically significant, uncontrolled cardiovascular disease\n* Received disease-directed therapy prior to the first dose of study drug:\n\n  1. Systemic therapy or antibody within 5 half-lives of the therapy.\n  2. Local therapy including radiation, surgery, or other procedures within 28 days; lesion(s) must have demonstrated progression after the procedure.","ALL","2 Years",{"count":19,"type":20},277,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, zovegalisib (RLY-2608), in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations driven by PIK3CA mutation. Part 1 is a dose selection, Part 2 is a basket design with exploratory single-arm cohorts for various subpopulations of participants, and Part 3 is randomized, double-blinded study vs placebo.",[26,27,28,29,30,31,32,33],"PIK3CA-Related Overgrowth Spectrum (PROS)","Lymphatic Malformations","Vascular Malformations","PIK3CA Mutation","CLOVES Syndrome","Klippel Trenaunay Syndrome","Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP)","Vascular Anomalies","RECRUITING","2026-06-10",{"date":37,"type":38},"2026-06-12","ACTUAL",{"date":40,"type":38},"2025-06-13",{"date":42,"type":20},"2031-10",{"name":44,"class":45},"Relay Therapeutics, Inc.","INDUSTRY",34,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":53,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":21,"phases":57,"briefSummary":58,"conditions":59,"keywords":76,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":92},"100514796","phase-2-a-trial-of-targeted-therapies-for-patients-with-slow-flow-or-fast-flow-vascular-malformations-100514796","NCT05983159","A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations","A Modular Open Label, Signal Seeking, Phase II Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations (TARGET-VM)","TARGET-VM","MODULE 1\n\nInclusion Criteria:\n\n1. Adult or paediatric patient, 2 years of age or over\n2. Patient has a clinical diagnosis of a slow-flow vascular malformation\n3. Patient has received standard therapy for the vascular malformation or in which, in the opinion of the investigator, standard therapy is not appropriate\n\n   \\- Note: standard therapy may include treatment with sirolimus. A minimum of 14 days since the last dose of sirolimus is required prior to starting treatment with alpelisib\n4. A documented genetic alteration in the PI3K signalling pathway identified by genetic sequencing prior to enrolment in this study\n5. Adequate performance status (Eastern Cooperative Oncology Group Performance Status Scale (ECOG) 0-2 in patients ≥ 16 years of age; Lansky \\> 50 in patients \\\u003C 16 years of age)\n6. Patient has a life expectancy ≥ 12 weeks\n7. Patient is able to swallow and retain oral medication\n8. Adequate haematologic and end-organ function:\n\n   * Haematology: Haemoglobin ≥ 9.0 g\u002FdL; Absolute neutrophil count ≥ 1.5 x 109\u002FL; Platelets ≥ 90 x 109\u002FL, except where bleeding leading to low haemoglobin level is an indication for treatment, in which case haemoglobin \\\u003C 9.0 g\u002FdL is acceptable.\n   * Hepatic function: alanine aminotransferase (ALT) and aspartate aminotransferase (AT) ≤ 3 x ULN; Total bilirubin \\\u003C 2x ULN except for participants with Gilbert's syndrome who may only be included if the total bilirubin is ≤ 3.0 x ULN or direct bilirubin ≤ 1.5 x ULN\n   * Renal function: Serum creatinine \\\u003C 1.5 x ULN\n   * Biochemistry: Calcium (corrected for serum albumin) and magnesium within normal limits or ≤ Grade 1 according to NCI-CTCAE v5.0 if judged clinically not significant by the investigator; Potassium within normal limits, or corrected with supplements\n   * Fasting blood glucose ≤ 7.0 mmol\u002FL and Glycosylated Haemoglobin (HbA1c) ≤ 6.4% (both criteria must be met)\n9. Patient agrees to abstinence or highly effective contraceptive measures for males and women of childbearing potential (WOCBP)\n\n   * Males who are sexually active must use a condom during intercourse while taking alpelisib and for at least 4 weeks after stopping alpelisib and should not father a child in this period. A condom is required to be used also by vasectomised men in order to prevent delivery of the drug via seminal fluid. In addition, male participants must not donate sperm during the study and for at least 4 weeks after stopping alpelisib\n   * Females who are of child-bearing potential, defined as all women physiologically capable of becoming pregnant, must use a highly effective method of contraception during study treatment and for at least 1 week after the last dose of any study treatment. Highly effective contraceptive methods include:\n\n     * Total abstinence (when this is in line with the preferred and usual lifestyle of the subject) Periodic abstinence (eg., calendar, ovulation, symptothermal, post-ovulation methods) and withdrawal are not acceptable methods of contraception;\n     * Female sterilisation (have had surgical bilateral oophorectomy with or without hysterectomy), total hysterectomy or bilateral tubal ligation at least 6 weeks before taking study treatment. In case of oophorectomy alone, only when the reproductive status of the women has been confirmed by follow up hormone level assessment;\n     * Male partner sterilisation (at least 6 months prior to screening) of the sole partner of a female participant on the study;\n     * Use of oral (estrogen and progesterone), injected or implanted combined hormonal method of contraception or placement of an intrauterine device (IUD) or intrauterine system (IUS), or forms of hormonal contraception that have comparable efficacy (failure rate \\\u003C 1%), for example hormonal vaginal ring or transdermal hormone contraception. In the case of use of oral contraception, women should have been stable on the same pill for a minimum of 3 months before taking study treatment.\n   * Women are considered postmenopausal and not of child bearing potential if they have had 12 months of natural (spontaneous) amenorrhoea with an appropriate clinical profile (i.e., age appropriate, history of vasomotor symptoms) or have had surgical bilateral oophorectomy (with or without hysterectomy), total hysterectomy, or bilateral tubal ligation at least 6 weeks before taking study treatment. In the case of oophorectomy alone, only when the reproductive status of the woman has been confirmed by follow up hormone level assessment is she considered to be not of child bearing potential.\n10. Patient has signed informed consent and is willing and able to comply with the protocol for the duration of the study, including undergoing treatment and scheduled visits and examinations\n\nExclusion Criteria:\n\n1. History of hypersensitivity to any drugs or metabolites of PI3K inhibitors or any of the excipients of alpelisib\n2. Severe infection requiring intravenous antibiotics within 4 weeks prior to enrolment\n3. Patient has had a major surgical procedure within 4 weeks prior to enrolment\n4. Prior use of an alpha-specific PI3K inhibitor\n5. History of pneumonitis or interstitial lung disease\n6. Patient is pregnant or lactating at the time of study registration. A pregnancy test is mandated for women of child-bearing potential in the screening period\n7. Established diagnosis of type I diabetes mellitus, type II diabetes mellitus requiring anti-hyperglycaemic medication or any participant with HbA1c \\> 6.4%\n8. Patient who is currently receiving medication with a known risk of prolonging the QT interval or inducing Torsades de Pointes\n9. Patient is currently receiving any of the following medications and cannot be discontinued 7 days prior to the start of treatment:\n\n   * Strong inducers of CYP3A4\n   * Strong inhibitors of CYP3A4\n   * Inhibitors of BCRP\n10. History of acute pancreatitis within 1 year of screening or past history of chronic pancreatitis\n11. Patient with Child Pugh score B or C\n12. Unresolved osteonecrosis of the jaw\n13. Impairment of GI function or GI disease that may significantly alter the absorption of the study drug based on investigator discretion\n14. Known history of Human Immunodeficiency Virus (HIV) infection (testing for HIV is not mandatory in screening)\n15. Known history of severe cutaneous reactions like Stevens-Johnson Syndrome (SJS), Toxic Epidermal Necrolysis (TEN), Erythema Multiforme (EM), or Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS)\n16. Known history of clinically significant, uncontrolled heart disease and\u002For recent cardiac events including:\n\n    * History of angina pectoris, coronary artery bypass graft (CABG), symptomatic pericarditis, or myocardial infarction within 6 months prior to the start of study treatment;\n    * History of documented congestive heart failure (New York Heart Association functional classification III-IV);\n    * History of impaired Left Ventricular Ejection Fraction (LVEF) \\\u003C 50% (an assessment of LVEF is not mandatory in screening)\n    * History of clinically significant cardiac arrhythmias, (e.g., ventricular tachycardia), complete left bundle branch block, high grade Atrioventricular (AV) block (e.g. bifascicular block, Mobitz type II and third degree AV block without pacemaker in place);\n    * Uncontrolled hypertension defined by a Systolic Blood Pressure (SBP) ≥ 160 mmHg and\u002For Diastolic Blood Pressure (DBP) ≥ 100 mmHg, with or without anti-hypertensive medication. Initiation or adjustment of antihypertensive medication(s) is allowed prior to screening;\n    * Long QT syndrome, family history of idiopathic sudden death or congenital long QT syndrome, or corrected QT interval \\> 470 msec at screening (using Fridericia correction);\n    * Bradycardia (heart rate \\\u003C 50 beats per minute at rest), by electrocardiogram (ECG) or pulse\n17. Patient has other concurrent severe and\u002For uncontrolled medical conditions that would, in the Treating Physician's judgement, contraindicate administration of alpelisib (eg. active or uncontrolled severe infection, chronic active hepatitis, immune-compromised, acute or chronic pancreatitis, uncontrolled high blood pressure)\n18. Patient is unable to understand and comply with treatment instructions and requirements\n\nMODULE 2\n\nInclusion Criteria:\n\n1. Adult or paediatric patient, 2 years of age or over where Body Surface Area (BSA) is greater than or equal to 0.4m2.\n2. Patient has a clinical diagnosis of a fast-flow vascular malformation\n3. Patient has received standard therapy for the vascular malformation or in which, in the opinion of the investigator, standard therapy is not appropriate\n\n   \\- Note: standard therapy may include treatment with sirolimus. A minimum of 14 days since the last dose of sirolimus is required prior to starting treatment with mirdametinib\n4. A documented genetic alteration in the RAS-MEK-ERK signalling pathway identified by genetic sequencing prior to enrolment in this study\n5. Adequate performance status (Eastern Cooperative Oncology Group Performance Status Scale (ECOG) 0-2 in patients ≥ 16 years of age; Lansky \\> 50 in patients \\\u003C 16 years of age)\n6. Patient has a life expectancy ≥ 12 weeks\n7. Participant has the ability to swallow capsules whole if the capsule dosage form is being utilized. This criterion does not apply if participant is utilizing the dispersible tablet form of study treatment\n8. Adequate haematologic and end-organ function:\n\n   * Haematology: Haemoglobin ≥ 9.0 g\u002FdL; Absolute neutrophil count ≥ 1.5 x 109\u002FL; Platelets ≥ 90 x 109\u002FL, except where bleeding leading to low haemoglobin level is an indication for treatment, in which case haemoglobin \\\u003C 9.0 g\u002FdL is acceptable.\n   * Hepatic function: alanine aminotransferase (ALT) and aspartate aminotransferase (AT) ≤ 2 x upper limit of normal (ULN); Total bilirubin \\\u003C 1.5x ULN (isolated bilirubin \\> 1.5x ULN is acceptable if bilirubin is fractioned and direct bilirubin \\\u003C 35%), except where impaired hepatic function is a consequence of the fast-flow malformation and hence is an indication for treatment, in which case impaired hepatic function is acceptable.\n   * Renal function: Serum creatinine \\\u003C 1.5 x ULN\n   * Biochemistry: Calcium (corrected for serum albumin) and magnesium within normal limits or ≤ Grade 1 according to NCI-CTCAE v5.0 if judged clinically not significant by the investigator; Potassium within normal limits or corrected with supplements; Phosphate ≤ 1x ULN.\n9. Patient agrees to abstinence or highly effective contraceptive measures if of childbearing potential (WOCBP)\n\n   * Males who are sexually active must use a condom during intercourse while taking mirdametinib and for at least 90 days after stopping mirdametinib and should not father a child in this period. A condom is required to be used also by vasectomised men in order to prevent delivery of the drug via seminal fluid. In addition, male participants must not donate sperm during the study and for at least 90 days after stopping mirdametinib\n   * Females who are of child-bearing potential, defined as all individuals physiologically capable of becoming pregnant, must use a highly effective method of contraception during study treatment and for at least 180 days after the last dose of any study treatment. Highly effective contraceptive methods include:\n\n     * Total abstinence (when this is in line with the preferred and usual lifestyle of the subject) Periodic abstinence (eg., calendar, ovulation, symptothermal, post-ovulation methods) and withdrawal are not acceptable methods of contraception;\n     * Female sterilisation (have had surgical bilateral oophorectomy with or without hysterectomy), total hysterectomy or bilateral tubal ligation at least 6 weeks before taking study treatment. In case of oophorectomy alone, only when the reproductive status of the women has been confirmed by follow up hormone level assessment;\n     * Male partner sterilisation (at least 6 months prior to screening) of the sole partner of a female participant on the study;\n     * Use of oral (estrogen and progesterone), injected or implanted combined hormonal method of contraception or placement of an intrauterine device (IUD) or intrauterine system (IUS), or forms of hormonal contraception that have comparable efficacy (failure rate \\\u003C 1%), for example hormonal vaginal ring or transdermal hormone contraception. In the case of use of oral contraception, women should have been stable on the same pill for a minimum of 3 months before taking study treatment.\n   * Women are considered postmenopausal and not of childbearing potential if they have had 12 months of natural (spontaneous) amenorrhoea with an appropriate clinical profile (i.e., age appropriate, history of vasomotor symptoms) or have had surgical bilateral oophorectomy (with or without hysterectomy), total hysterectomy, or bilateral tubal ligation at least 6 weeks before taking study treatment. In the case of oophorectomy alone, only when the reproductive status of the woman has been confirmed by follow up hormone level assessment is she considered to be not of childbearing potential.\n10. Patient has signed informed consent and is willing and able to comply with the protocol for the duration of the study, including undergoing treatment and scheduled visits and examinations\n\nExclusion Criteria:\n\n1. History of hypersensitivity to any drugs or metabolites of MEK inhibitors or any of the excipients of mirdametinib\n2. Severe infection requiring intravenous antibiotics within 4 weeks prior to enrolment\n3. Patient has had a major surgical procedure within 4 weeks prior to enrolment\n4. Prior use of a MEK inhibitor\n5. Patient has abnormal QT interval corrected by Fridericia's formula (\\> 450 msec for male participants, \\> 470 msec for female participants, or \\> 480 msec for participants with bundle branch block) (triplicate ECG readings taken approximately 2 to 3 minutes apart and averaged) at Screening;\n6. Patient is pregnant or lactating at the time of study registration. A pregnancy test is mandated for persons of child-bearing potential in the screening period\n7. Impairment of GI function or GI disease that may significantly alter the absorption of the study drug based on investigator discretion\n8. Any clinically significant active or known history of liver disease, or known hepatic or biliary abnormalities (with the exception of Gilbert's syndrome or asymptomatic gallstones)\n9. Lymphoma, leukaemia, or any malignancy within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years;\n10. Breast cancer within the past 5 years;\n11. Known history of Human Immunodeficiency Virus (HIV) infection (testing for HIV is not mandatory in screening)\n12. Known history of severe cutaneous reactions like Stevens-Johnson Syndrome (SJS), Toxic Epidermal Necrolysis (TEN), Erythema Multiforme (EM), or Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS)\n13. Patient has a history of, or evidence of, retinal pathology on ophthalmologic examination that is considered a risk factor for central serous retinopathy, retinal vein occlusion (RVO), or neovascular macular degeneration. Patients will be excluded from study participation if they have any of the following risk factors for RVO at Screening:\n\n    * Intraocular pressure \\> 21 mmHg;\n    * Serum cholesterol \\> 7.8 mmol\u002FL;\n    * Serum triglycerides \\> 3.4 mmol\u002FL;\n    * Hyperglycaemia (fasting blood glucose \\> 7.0 mol\u002FL );\n    * Age specific hypertension\n\n      * Patients ≥ 13 years of age with a blood pressure ≥ 140\u002F90 mmHg\n      * Patients ≤ 12 years of age with a blood pressure ≥ 95th percentile for age + 12 mmHg\n14. Known history of glaucoma\n15. Known history of clinically significant, uncontrolled heart disease and\u002For recent (within 6 months \\[24 weeks\\] of signing informed consent\u002Fassent) cardiac events including:\n\n    * History of angina pectoris, coronary artery bypass graft (CABG), symptomatic pericarditis, or myocardial infarction within 6 months prior to the start of study treatment;\n    * History of documented congestive heart failure (New York Heart Association functional classification III-IV);\n    * History of clinically significant cardiac arrhythmias, (e.g., ventricular tachycardia), complete left bundle branch block, high grade Atrioventricular (AV) block (e.g. bifascicular block, Mobitz type II and third degree AV block without pacemaker in place);\n    * Uncontrolled hypertension defined by a Systolic Blood Pressure (SBP) ≥ 140 mmHg and\u002For Diastolic Blood Pressure (DBP) ≥ 90 mmHg, with or without anti-hypertensive medication. Initiation or adjustment of antihypertensive medication(s) is allowed prior to screening;\n    * Long QT syndrome, family history of idiopathic sudden death or congenital long QT syndrome, or corrected QT interval \\> 470 msec at screening (using Fridericia correction);\n    * Bradycardia (heart rate \\\u003C 50 beats per minute at rest), by electrocardiogram (ECG) or pulse\n16. Patient has recorded a left ventricular ejection fraction (LVEF) \\\u003C 55% at Screening\n17. Patient has experienced a cerebrovascular accident, transient ischaemic attach, or symptomatic pulmonary embolism within 6 months (24 weeks) of signing informed consent\u002Fassent.\n18. Patient has other concurrent severe and\u002For uncontrolled medical conditions that would, in the Treating Physician's judgement, contraindicate administration of mirdametinib (eg. active or uncontrolled severe infection, chronic active hepatitis, immune-compromised, acute or chronic pancreatitis, uncontrolled high blood pressure)\n19. Patient is unable to understand and comply with treatment instructions and requirements",{"count":56,"type":20},50,[23],"Recent studies have demonstrated that growth of vascular malformations can be driven by genetic variants in one of 2 signalling pathways. Targeted drugs specific to these pathways have been developed and shown to be effective in treating cancer. This study will describe the effectiveness of (i) 48 weeks of alpelisib therapy for participants with slow-flow vascular malformations and a gene mutation in one of these signalling pathways (module 1) and (ii) 48 weeks of mirdametinib therapy for participants with fast-flow vascular malformations and a gene mutations in the other signalling pathway (module 2).",[60,61,28,62,63,64,65,66,67,68,69,33,70,71,72,73,74,75],"Slow-Flow Vascular Malformation","Fast-Flow Vascular Malformation","Venous Malformation","Lymphatic Malformation, Low Flow","Lymphatic Malformation","Lymphangioma","Arteriovenous Malformations","Venous Malformation, Low Flow","Cystic Hygroma","Vascular Anomaly","PI3K Gene Mutation","MAP2K1 Gene Mutation","PIK3CA-related Overgrowth Spectrum","Arteriovenous Malformation (AVM)","KRAS G12C","KRAS G12D",[77,78,79,80,81],"Targeted therapy","vascular malformations","skin diseases, vascular","Phosphatidylinositol 3-Kinases","MEK inhibitor 1","2026-04-29",{"date":84,"type":38},"2026-05-05",{"date":86,"type":38},"2024-09-13",{"date":88,"type":20},"2027-05",{"name":90,"class":91},"Murdoch Childrens Research Institute","OTHER",2,{"id":94,"slug":95,"hasResults":11,"nctId":96,"briefTitle":97,"officialTitle":98,"acronym":4,"eligibilityCriteria":99,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":100,"targetDuration":102,"studyType":103,"phases":4,"briefSummary":104,"conditions":105,"keywords":131,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":137,"lastUpdatePostDateStruct":138,"startDateStruct":140,"completionDateStruct":142,"leadSponsor":144,"locationsCount":146},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":101,"type":20},380,"10 Years","OBSERVATIONAL","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,33,123,124,125,126,127,128,129,130],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[132,133,134,109,135,136,112,113,114,115,116,117,118,119,120,121,122,33,123,124,125,126,127,128,130],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":139,"type":38},"2026-01-14",{"date":141,"type":38},"2024-07-01",{"date":143,"type":20},"2034-12-31",{"name":145,"class":91},"Hospital Italiano de Buenos Aires",1,{"id":148,"slug":149,"hasResults":11,"nctId":150,"briefTitle":151,"officialTitle":152,"acronym":4,"eligibilityCriteria":153,"healthyVolunteers":11,"sex":16,"minAge":154,"maxAge":4,"enrollmentInfo":155,"targetDuration":4,"studyType":21,"phases":157,"briefSummary":159,"conditions":160,"keywords":161,"overallStatus":163,"whyStopped":4,"lastUpdateSubmitDate":164,"lastUpdatePostDateStruct":165,"startDateStruct":167,"completionDateStruct":169,"leadSponsor":171,"locationsCount":4},"100577851","radiofrequency-ablation-of-vascular-anomalies-100577851","NCT06803667","Radiofrequency Ablation of Vascular Anomalies","Use of the Moving Shot Radiofrequency Ablation Technique for the Treatment of Vascular Anomalies","Inclusion Criteria\n\nPatients Over Three Years of Age\n\nRadiologic Diagnosis of \"Slow Flow\" Vascular Malformation, using either Doppler Ultrasound and\u002For MRI, that is a candidate for sclerotherapy treatment after discussion in multidisciplinary committee\n\nVascular Malformations are a subset of Vascular Anomalies as defined by the International Society For the Study of Vascular Anomalies of 2018 Classification\n\nVascular Malformations Include:\n\nCapillary Malformations Lymphatic Malformations Venous Malformations Arteriovenous Malformations Arteriovenous Fistula\n\n\"Slow Flow\" Vascular Malformations, as defined by lack of arterial flow on Duplex Ultrasound, will be eligible for enrollment. These include: Lymphatic Malformations Venous Malformations\n\nPatient is symptomatic (pain, swelling, functionally limited, or cosmetic concern), and Patient\u002FGuardian desires treatment\n\nRFA considered technically feasible and an alternative to targeted sclerotherapy after discussion by multidisciplinary committee\n\nTarget \"Slow Flow\" Vascular Malformation is easily visualized\u002Fwell characterized with ultrasound such that lesion can be easily targeted for RFA using the \"moving shot\" technique\n\nTarget Area of \"Slow Flow\" Vascular Malformation is at least 3 mm below the skin surface\n\nTarget Area of \"Slow Flow\" Vascular Malformation is at least 3 mm away from critical neurovascular structures\n\nPatient able to undergo General Anesthesia\n\nPatient\u002FGuardian Agreeable to RFA in lieu of percutaneous sclerotherapy\n\nPatients who have had their vascular anomalies previously treated as well as treatment naive patients are all eligible.\n\nExclusion Criteria\n\nHistory of metallic surgical implants (Pacemaker, ICD, Implantable pain Pump, Spinal cord Stimulator ETC)\n\nPregnant Patients All patients who have begun their menstrual cycle OR are 12 years of age or older will be asked to perform a pregnancy test, either urine or blood per our institutional protocols. If patient\u002Ffamily refuses, signed acknowledgement will be obtained that documents refusal and affirmation of non-pregnant status\n\nPatient unable to safely undergo anesthesia","3 Years",{"count":156,"type":20},15,[158],"NA","Vascular Anomalies (VA) are areas of disorganized blood vessel tissue that can appear as lumps or bumps under the skin. Sometimes they can cause you discomfort, or you may not like how they look. One option for treatment is to place a needle through the skin into the VA and inject medicines called sclerosants that can cause them to shrink. This treatment is called sclerotherapy and is the standard of care. While sclerotherapy is safe and effective, other alternatives for treatment exist, such as using heat. Just like with sclerotherapy, a small needle is inserted through the skin into the VA while the doctor watches it using imaging techniques. Once the needle tip is in the right spot, the needle tip delivers heat energy to the VA, causing it to shrink. We believe that using heat to treat VAs may be safer and more effective than using sclerotherapy, and we are asking for your participation in this study to help us determine whether that is correct.\n\nYou are being given the option of using heat instead of sclerosant medicines to treat your VA. Regardless of whether you choose targeted heat or sclerosant medicine injection for your treatment, all procedures will be performed under sedation with an anesthesiologist, and you will continue to have appointments with the vascular anomalies clinic after your procedure.\n\nThe risks to you if you decide to use heat for treatment of your vascular anomaly are similar to injecting sclerosant medicines, which includes bleeding, infection, and damage to nearby structures.\n\nThere is also the additional risk of heating the skin and causing a burn, but the risk of this is low.\n\nBenefits of using heat instead of sclerosant medicine include avoiding sclerosant medicine side effects. Possible benefits include more effective treatment of your vascular anomaly than could be achieved with traditional sclerotherapy.\n\nParticipation is entirely voluntary, and if you decide not to use heat for treatment of your VA, you are free to discuss with your doctor alternative treatments like sclerotherapy.",[33],[62,64,69,162],"Radiofrequency Ablation","NOT_YET_RECRUITING","2025-01-27",{"date":166,"type":38},"2025-01-31",{"date":168,"type":20},"2025-03",{"date":170,"type":20},"2026-09",{"name":172,"class":91},"Baylor College of Medicine"]