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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, cystic hygroma, lymphangioma, lymphatic system disorder, neoplasmRecruitingPhase 2 / Phase 32026-10-09NCT05948943
A Prospective Natural History Study of Lymphatic AnomaliesBone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Osteolysis, Essential, Peritoneal Diseases, bone disorder, bone resorption disease, chylous ascites, digestive system disorder, intestinal disorder, lymphangiectasis, lymphatic system disorder, lymphedema, lytic metastatic bone lesion, musculoskeletal system disorder, protein-losing enteropathyRecruitingNot stated2026-09-28NCT05731141
A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES SyndromeCLOVES syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, angiomatosis, angioosteohypertrophic syndrome, cardiovascular disorder, lymphatic system disorder, vascular disorderRecruitingPhase 32026-09-21NCT07285005
Lymphatic Anomalies Registry for the Assessment of Outcome DataBone Diseases, Developmental, CLOVES syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Osteolysis, Essential, angiomatosis, angioosteohypertrophic syndrome, blue rubber bleb nevus, bone disorder, bone resorption disease, cardiovascular disorder, kaposiform hemangioendothelioma, kaposiform lymphangiomatosis, lymphatic malformation, lymphatic malformation 12, lymphatic system disorder, lytic metastatic bone lesion, musculoskeletal system disorder, tufted angioma, vascular disorder, vascular malformationRecruitingNot stated2026-09-10NCT02399527
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)CLOVES syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, angiomatosis, angioosteohypertrophic syndrome, cardiovascular disorder, lymphatic system disorder, megalencephaly-capillary malformation-polymicrogyria syndrome, vascular disorder, vascular malformationRecruitingPhase 22026-08-25NCT06789913
Safety and Efficacy Study of Intracystic TARA-002 for the Treatment of Lymphatic Malformations in Participants 6 Months to Less Than 18 Years of AgeCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, lymphatic malformation, lymphatic system disorderRecruitingPhase 22026-08-24NCT05871970
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorderRecruitingNot stated2026-07-29NCT00556530
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Tourette syndrome, X-linked disease, anxiety, anxiety disorder, attention deficit hyperactivity disorder, inattentive type, autism, autism spectrum disorder, basal ganglia disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, hamartoma, heart disorder, hereditary disease, hereditary neoplastic syndrome, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, oppositional defiant disorder, parathyroid gland disorder, pervasive developmental disorder, psychiatric disorder, tic disorder, tuberous sclerosisRecruitingPhase 22026-07-27NCT06081348
Parent and Infant Inter(X)Action Intervention (PIXI)22q11.2 deletion syndrome, Abnormalities, Multiple, Angelman syndrome, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Chronobiology Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Duchenne muscular dystrophy, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Klinefelter syndrome, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Phelan-McDermid syndrome, Prader-Willi syndrome, Rett syndrome, Sex Chromosome Disorders, Smith-Magenis syndrome, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, developmental disability, disorder of sexual differentiation, endocrine system disorder, fragile X syndrome, gonadal disorder, gonadal dysgenesis, hamartoma, heart disorder, heart valve disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, nutritional disorder, obesity disorder, overnutrition, parathyroid gland disorder, psychiatric disorder, sex chromosome disorder of sex development, tuberous sclerosisEnrolling by invitationNot applicable2026-07-13NCT03836300
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Chromosome Aberrations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Aberrations, Trisomy 18 Syndrome, aneuploidy, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, parathyroid gland disorder, trisomy 13, trisomy 18RecruitingNot stated2026-06-12NCT07643896
Efficacy of Rapamycin in the Treatment of Cervico-facial Lymphatic MalformationsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, lymphatic malformation, lymphatic system disorderRecruitingPhase 22026-05-22NCT03243019
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)22q11.2 deletion syndrome, Abnormalities, Multiple, Blood Protein Disorders, Cardiovascular Abnormalities, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DNA repair disease, DiGeorge syndrome, Digestive System Diseases, Disease Attributes, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Omenn syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, X-linked disease, cardiovascular disorder, chromosomal disorder, chronic granulomatous disease, common variable immunodeficiency, congenital heart disease, digestive system disorder, dysgammaglobulinemia, endocrine system disorder, heart disorder, hematologic disorder, hereditary disease, hyper-IgM syndrome, hypoparathyroidism, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, inborn error of immunity, intestinal disorder, leukocyte disorder, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, parathyroid gland disorder, phagocyte bactericidal dysfunction, severe combined immunodeficiencyRecruitingPhase 22026-05-15NCT07284641
A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular MalformationsCardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, PIK3CA-related overgrowth spectrum, Skin and Connective Tissue Diseases, arteriovenous hemangioma/malformation, cardiovascular disorder, cystic hygroma, lymphangioma, lymphatic malformation, lymphatic system disorder, neoplasm, skin disorder, skin vascular disease, vascular disorder, vascular malformation, venous hemangiomaRecruitingPhase 22026-05-05NCT05983159
SELVA: A Phase 3 Study Evaluating QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic MalformationsCardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, cardiovascular disorder, lymphangioma, lymphatic system disorder, microcystic lymphatic malformation, neoplasm, vascular malformationActive, not recruitingPhase 32026-03-27NCT06239480
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Brain Damage, Chronic, Brain Injuries, Traumatic, Cardiovascular Abnormalities, Cerebral Palsy, Athetoid, Chromosome Aberrations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniocerebral Trauma, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Hemic and Lymphatic Diseases, Hypoxia, Hypoxia, Brain, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, Signs and Symptoms, Respiratory, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, autism spectrum disorder, brain disorder, brain hypoxia - ischemia, brain injury, brain ischemia, cardiovascular disorder, central nervous system disorder, cerebral palsy, cerebral palsy spastic hemiplegic, cerebrovascular disorder, chromosomal disorder, congenital heart disease, developmental disability, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, injury, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, nervous system injury, neurodevelopmental disorder, parathyroid gland disorder, perinatal asphyxia, pervasive developmental disorder, psychiatric disorder, vascular disorderRecruitingNot stated2026-03-25NCT07493096
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, parathyroid gland disorder, velocardiofacial syndromeRecruitingPhase 42026-03-18NCT00768820
Weekly Sirolimus TherapyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, lymphatic malformation, lymphatic system disorder, venous hemangiomaRecruitingPhase 22026-03-05NCT04861064
Immune Disorder HSCT Protocol22q11.2 deletion syndrome, Abnormalities, Multiple, Blood Protein Disorders, Bruton-type agammaglobulinemia, Cardiovascular Abnormalities, Chediak-Higashi syndrome, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, DNA repair disease, DiGeorge syndrome, Disease Attributes, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lymphatic Abnormalities, Lymphohistiocytosis, Hemophagocytic, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Wiskott-Aldrich syndrome, X-linked disease, albinism, autoimmune disease, autoimmune lymphoproliferative syndrome, blood coagulation disease, cardiovascular disorder, chromosomal disorder, chronic granulomatous disease, common variable immunodeficiency, congenital heart disease, dysgammaglobulinemia, endocrine system disorder, eye disorder, heart disorder, hematologic disorder, hemorrhagic disease, hereditary disease, histiocytosis, hyper-IgM syndrome, hypoparathyroidism, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, immunoproliferative disorder, inborn error of immunity, inherited blood coagulation disorder, leukocyte disorder, leukopenia, lymphatic system disorder, lymphopenia, lymphoproliferative syndrome, metabolic disease, musculoskeletal system disorder, non-Langerhans cell histiocytosis, parathyroid gland disorder, phagocyte bactericidal dysfunction, severe combined immunodeficiencyActive, not recruitingPhase 22026-02-19NCT01821781
A Prospective Study on the Treatment of cLM Based on ICG ImagingCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, lymphatic malformation, lymphatic system disorderRecruitingNot applicable2026-02-18NCT06275022
European Registry Study on Lymphatic InterventionsChylothorax, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, digestive system disorder, intestinal disorder, lymphatic system disorder, plastic bronchitis, pleural disorder, protein-losing enteropathy, respiratory system disorderRecruitingNot stated2026-01-21NCT07131293
Injection Sclerotherapy With Bleomycin VS Doxycycline in Patients With Lymphatic MalformationsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, lymphatic system disorderNot yet recruitingPhase 22026-01-06NCT07320001
Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorderRecruitingNot applicable2025-12-02NCT05664412
Understanding of Psychotic Disorders in Children With 22q11.2DS22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorderRecruitingNot applicable2025-07-30NCT04639388
Diagnostic Imaging of Vascular Malformations Using MSOT and ULMCardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, arteriovenous hemangioma/malformation, cardiovascular disorder, lymphatic malformation, lymphatic system disorder, vascular disorder, vascular malformationNot yet recruitingNot stated2025-06-22NCT06994260
Institution of an Italian Registry and Biobank for Biological Sample CollectionCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, lymphangioma, lymphatic malformation, lymphatic system disorder, neoplasmRecruitingNot applicable2025-03-25NCT06892964