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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Study of Skin Tumors in Tuberous SclerosisCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisRecruitingNot stated2026-10-08NCT00001975
Role of Genetic Factors in the Development of Lung DiseaseCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Fibrosis, Hemic and Lymphatic Diseases, Hypersensitivity, Delayed, Hypersensitivity, Immediate, Infant, Newborn, Diseases, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Respiratory Hypersensitivity, Subcutaneous Emphysema, alpha 1-antitrypsin deficiency, asthma, bronchial disorder, central nervous system malformation, cerebral cortical dysplasia, cystic fibrosis, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, inherited neurodegenerative disorder, interstitial lung disease, liver disorder, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, obstructive lung disease, pancreas disorder, pulmonary emphysema, pulmonary fibrosis, pulmonary sarcoidosis, respiratory system disorder, sarcoidosis, tuberous sclerosisRecruitingNot stated2026-10-08NCT00001532
Study of the Disease Process of LymphangioleiomyomatosisCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Malformations of Cortical Development, Group I, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, inherited neurodegenerative disorder, lung disorder, lymphangioleiomyomatosis, lymphangiomyoma, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, neoplasm with perivascular epithelioid cell differentiation, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, pleural disorder, pneumothorax, respiratory system disorder, tuberous sclerosisRecruitingNot stated2026-10-08NCT00001465
Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention StudyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisRecruitingPhase 22026-10-02NCT05104983
ESIS in Pediatric DRECongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Drug Resistant Epilepsy, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisActive, not recruitingNot stated2026-10-01NCT05469373
Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy (RESTOR-1)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Drug Resistant Epilepsy, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis, visual epilepsyNot yet recruitingPhase 22026-09-29NCT07680322
Neurocutaneous Syndromes in Children: Prevalence and Clinical CharacteristicsAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Skin Abnormalities, Skin and Connective Tissue Diseases, Sturge-Weber syndrome, angiomatosis, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, ectodermal dysplasia syndrome, hamartoma, hemangioma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, peripheral nervous system disorder, skin disorder, tuberous sclerosis, vascular cancer, vascular disorderNot yet recruitingNot stated2026-09-28NCT07843823
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Imprinting Disorders, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Phelan-McDermid syndrome, Rett syndrome, Sex Chromosome Disorders, X-linked disease, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, creatine transporter deficiency, fragile X syndrome, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, movement disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, partial deletion of the long arm of chromosome 15, tuberous sclerosisActive, not recruitingNot applicable2026-09-18NCT06139172
A Phase IV Study of Safety and Efficacy of Everolimus in Taiwanese Patients With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma (TSC-AML)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Adipose Tissue, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, angiomyolipoma, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, kidney angiomyolipoma, neoplasm, neoplasm with perivascular epithelioid cell differentiation, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisActive, not recruitingPhase 42026-09-17NCT05252585
PTEN Hamartoma Tumor Syndrome Pediatric Patient RegistryCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, PTEN hamartoma tumor syndrome, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, macrocephaly-autism syndrome, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderRecruitingNot stated2026-08-31NCT06462430
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral SolutionCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Fibrosis, Lennox-Gastaut syndrome, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cirrhosis of liver, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, liver disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisActive, not recruitingPhase 42026-08-26NCT05044819
AMT-260 Gene Therapy Study in Adults With Unilateral Refractory Mesial Temporal Lobe EpilepsyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Epileptic Syndromes, Hippocampal Sclerosis, Malformations of Cortical Development, Group I, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, nervous system disorderRecruitingPhase 1 / Phase 22026-08-24NCT06063850
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued TreatmentCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis, visual epilepsyActive, not recruitingPhase 32026-08-21NCT02962414
Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Focal Cortical Dysplasia, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hemimegalencephaly, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisRecruitingPhase 1 / Phase 22026-08-10NCT07287202
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder, tuberous sclerosisActive, not recruitingNot stated2026-08-06NCT02461459
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, PTEN hamartoma tumor syndrome, atrial septal defect, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderActive, not recruitingNot stated2026-08-06NCT02461446
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
Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Muscle Hypertonia, Muscle Spasticity, Musculoskeletal Abnormalities, Neurologic Manifestations, Neuromuscular Manifestations, Paraplegia, Spastic, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, central nervous system malformation, cerebral cortical dysplasia, hereditary spastic paraplegia 50, microcephaly, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, palsy, paraplegiaRecruitingPhase 1 / Phase 22026-07-08NCT05518188
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)Alport syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Chronic Disease, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Urogenital Abnormalities, Urogenital Diseases, X-linked disease, autoimmune disease, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebrovascular disorder, chronic renal failure syndrome, connective tissue disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary nephritis, immune system disorder, inborn errors of metabolism, inherited neurodegenerative disorder, kidney disorder, kidney failure, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, mouth disorder, neoplasm, nephritis, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, periodontal disorder, periodontitis, sphingolipidosis, systemic lupus erythematosus, tuberous sclerosis, urinary system disorder, vascular disorderRecruitingNot stated2026-06-26NCT07575347
MEHMO Natural History and BiomarkersBody Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, MEHMO syndrome, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, intellectual disability, microcephaly, musculoskeletal system disorder, nervous system disorder, neurodevelopmental disorder, nutritional disorder, obesity disorder, overnutrition, psychiatric disorderRecruitingNot stated2026-06-25NCT06019182
TSC Biosample Repository and Natural History DatabaseCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Malformations of Cortical Development, Group I, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, inherited neurodegenerative disorder, lymphangioleiomyomatosis, lymphangiomyoma, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, neoplasm with perivascular epithelioid cell differentiation, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosisRecruitingNot stated2026-06-24NCT05676099
Fluorescence Guided Focal Cortical Dysplasia SurgeryCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Drug Resistant Epilepsy, Focal Cortical Dysplasia, Malformations of Cortical Development, Group I, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, nervous system disorderNot yet recruitingPhase 22026-06-18NCT07657975
Familial Investigations of Childhood Cancer PredispositionAbnormalities, Multiple, Adenomatous Polyps, Adnexal Diseases, Bone Diseases, Developmental, Bone Marrow Failure Disorders, Cardiovascular Abnormalities, Carney complex, Ciliopathies, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Cronkhite-Canada syndrome, Cysts, DICER1-related tumor predisposition, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Digestive System Neoplasms, Disease Attributes, Ear Diseases, Eye Diseases, Hereditary, Fanconi anemia, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, GATA2 deficiency with susceptibility to MDS/AML, Genital Diseases, Hemic and Lymphatic Diseases, Hodgkins lymphoma, Hyperpigmentation, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Li-Fraumeni syndrome, Lynch syndrome, Malformations of Cortical Development, Group I, Melanosis, Musculoskeletal Abnormalities, Myosarcoma, NF2-related schwannomatosis, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neuroectodermal Tumors, Primitive, Neuroectodermal Tumors, Primitive, Peripheral, Noonan syndrome, Nutritional and Metabolic Diseases, Otorhinolaryngologic Neoplasms, PTEN hamartoma tumor syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peutz-Jeghers syndrome, Rothmund-Thomson syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, X-linked disease, acoustic neuroma, acute leukemia, acute myeloid leukemia, adenocarcinoma, adenoma, adrenal cortex disorder, adrenal cortex neoplasm, adrenal gland cancer, adrenal gland disorder, anemia, angiomatosis, aplastic anemia, basal cell carcinoma, basal cell neoplasm, bone disorder, bone marrow disorder, breast disorder, breast neoplasm, carcinoma, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, choroid plexus carcinoma, classic familial adenomatous polyposis, colonic disorder, colorectal neoplasm, congenital heart disease, connective tissue disorder, connective tissue neoplasm, cranial nerve neoplasm, cranial nerve neuropathy, deafness-lymphedema-leukemia syndrome, digestive system disorder, digestive system neoplasm, disease susceptibility, dyskeratosis congenita, endocrine system disorder, epithelial neoplasm, eye disorder, familial rhabdoid tumor, female reproductive system disorder, female reproductive system neoplasm, gastrointestinal stromal tumor, gonadal disorder, hamartoma, heart cancer, heart disorder, hematologic disorder, hereditary Wilms tumor, hereditary breast ovarian cancer syndrome, hereditary disease, hereditary neoplastic syndrome, hereditary pheochromocytoma-paraganglioma, hereditary skin disorder, immune system disorder, immunoproliferative disorder, inherited aplastic anemia, inherited disease susceptibility, inherited neurodegenerative disorder, intestinal disorder, juvenile polyposis syndrome, lentigo, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, malignant endocrine neoplasm, malignant pancreatic neoplasm, melanocytic neoplasm, melanoma, metabolic disease, mismatch repair cancer syndrome, mismatch repair cancer syndrome 1, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, musculoskeletal system disorder, myelodysplastic syndrome, myomatous neoplasm, myxoma, neoplasm, nerve sheath neoplasm, nervous system disorder, neuroblastoma, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuroma, neuromuscular disease, nevoid basal cell carcinoma syndrome, non-Hodgkin lymphoma, ocular cancer, odontogenic cyst, otorhinolaryngologic disease, ovarian cancer, ovarian disorder, pancreas disorder, pancreatic neoplasm, paraganglioma, peripheral nervous system disorder, pheochromocytoma, pheochromocytoma-paraganglioma, primitive neuroectodermal tumor, pure red-cell aplasia, retinal cancer, retinal disorder, retinoblastoma, retrocochlear disease, rhabdomyosarcoma, sarcoma, schwannoma, skin disorder, skin neoplasm, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vascular disorder, vestibulocochlear nerve disorder, von Hippel-Lindau diseaseRecruitingNot stated2026-06-17NCT03050268
Epidyolex® in Lennox Gastaut, Dravet Syndrome and Tuberous Sclerosis Complex: an Observational Study in ITALYCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Lennox-Gastaut syndrome, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, epilepsy, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis, visual epilepsyActive, not recruitingNot stated2026-06-03NCT05485831