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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Determining the Effectiveness of Working Out Dads to Reduce Mental Health Difficulties in Fathers of Young ChildrenCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Site, Neoplasms, Multiple Primary, endocrine system disorder, hereditary disease, hereditary neoplastic syndrome, malignant endocrine neoplasm, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, neoplasmActive, not recruitingNot applicable2026-10-08NCT04813042
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
Liquid Biopsy Evaluation and Repository Development at Princess MargaretAdnexal Diseases, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Lynch syndrome, Male Urogenital Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, benign urinary system neoplasm, breast cancer, breast disorder, breast neoplasm, cancer, central nervous system cancer, colonic disorder, colonic neoplasm, colorectal neoplasm, digestive system disorder, digestive system neoplasm, endocrine system disorder, female reproductive system disorder, female reproductive system neoplasm, gonadal disorder, hamartoma, head and neck cancer, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, immune system disorder, immunoproliferative disorder, intestinal disorder, kidney cancer, kidney disorder, leukemia, lung cancer, lung disorder, lung neoplasm, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, malignant colon neoplasm, malignant endocrine neoplasm, melanocytic neoplasm, melanoma, meningioma, metabolic disease, neoplasm, nervous system disorder, neuroendocrine neoplasm, ovarian cancer, ovarian disorder, plasma cell neoplasm, primitive neuroectodermal tumor, respiratory system disorder, respiratory tract neoplasm, skin disorder, skin neoplasm, tumor of meninges, urinary system disorder, uterine cancer, uterine disorder, vascular cancerRecruitingNot stated2026-09-25NCT03702309
Deferred Cytoreductive Nephrectomy in Synchronous Metastatic Renal Cell Carcinoma: The NORDIC-SUN-TrialFemale Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Neoplasms by Site, Neoplasms, Multiple Primary, Urogenital Diseases, Urogenital Neoplasms, benign urinary system neoplasm, kidney cancer, kidney disorder, neoplasm, urinary system disorderRecruitingNot applicable2026-09-23NCT03977571
Study of Proteus Syndrome and Related Congenital DisordersAbnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Proteus syndrome, bone disorder, hamartoma, hereditary endocrine growth disease, musculoskeletal system disorder, neoplasmRecruitingNot stated2026-09-22NCT00001403
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
Lenvatinib and Everolimus in Treating Patients With Advanced, Unresectable Carcinoid TumorsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, digestive system neuroendocrine neoplasm, endocrine system disorder, hereditary disease, hereditary neoplastic syndrome, malignant endocrine neoplasm, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, neoplasm, neuroendocrine neoplasm, primitive neuroectodermal tumorActive, not recruitingPhase 22026-09-18NCT03950609
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
Natural History Study of Parathyroid DisordersBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Head and Neck Neoplasms, Neoplasms by Site, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Parathyroid Neoplasms, bone disorder, calcium metabolic disease, endocrine system disorder, hereditary disease, hereditary neoplastic syndrome, hyperparathyroidism, inborn errors of metabolism, inborn metal metabolism disorder, malignant endocrine neoplasm, metabolic disease, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, musculoskeletal system disorder, neoplasm, parathyroid gland disorder, primary hyperparathyroidism, pseudohypoparathyroidismRecruitingNot stated2026-09-17NCT04969926
Precision Radiotherapy Using MR-linac for Pancreatic Neuroendocrine Tumours in MEN1 PatientsAdenoma, Islet Cell, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Multiple Primary, adenoma, endocrine system disorder, epithelial neoplasm, hereditary disease, hereditary neoplastic syndrome, malignant endocrine neoplasm, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, neoplasm, pancreas disorder, pancreatic neoplasmActive, not recruitingNot applicable2026-09-09NCT05037461
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
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
Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast CancerCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, DNA repair disease, Li-Fraumeni syndrome, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, hamartoma, hereditary disease, hereditary neoplastic syndrome, metabolic disease, neoplasmRecruitingNot stated2026-08-18NCT06888388
Proof-of-Concept Trial to Assess the Efficacy and Safety of Fezolinetant in Improving Vasomotor Symptoms in Men With Prostate Cancer Undergoing Androgen Deprivation TherapyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Genital Diseases, Hot Flashes, Male Urogenital Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Multiple Primary, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Urogenital Diseases, Urogenital Neoplasms, adenocarcinoma, carcinoma, endocrine system disorder, epithelial neoplasm, hereditary disease, hereditary neoplastic syndrome, male reproductive organ cancer, male reproductive system disorder, malignant endocrine neoplasm, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, neoplasm, prostate adenocarcinoma, prostate cancer, prostate carcinoma, prostate disorderRecruitingPhase 22026-08-17NCT06957691
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
Cardiovascular Effects of Purple-Fleshed PotatoesCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Site, Neoplasms, Multiple Primary, Prehypertension, cardiovascular disorder, endocrine system disorder, hereditary disease, hereditary neoplastic syndrome, malignant endocrine neoplasm, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, neoplasm, vascular disorderNot yet recruitingNot applicable2026-07-29NCT07734948