neurocutaneous syndrome
neurocutaneous syndrome
Explore linked clinical trials. Standard reference: MONDO:0042983139 results · Page 1 of 6
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, Neurologic Manifestations, Pain, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, hereditary disease, hereditary neoplastic syndrome, 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, peripheral nervous system neoplasm, plexiform neurofibroma | Active, not recruiting | Phase 1 / Phase 2 | 2026-10-08 | NCT01362803 | |
| Natural History Study of Patients With Neurofibromatosis Type I | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Fibrous Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, connective tissue neoplasm, cranial nerve neoplasm, cranial nerve neuropathy, epithelial neoplasm, eye disorder, fibrosarcoma, glioma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neurofibrosarcoma, neuromuscular disease, optic nerve disorder, optic nerve glioma, optic nerve neoplasm, peripheral nervous system disorder, peripheral nervous system neoplasm, plexiform neurofibroma, primitive neuroectodermal tumor, sarcoma | Active, not recruiting | Not stated | 2026-10-08 | NCT00924196 | |
| Study of Skin Tumors in Tuberous Sclerosis | Congenital 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 sclerosis | Recruiting | Not stated | 2026-10-08 | NCT00001975 | |
| Role of Genetic Factors in the Development of Lung Disease | Congenital 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 sclerosis | Recruiting | Not stated | 2026-10-08 | NCT00001532 | |
| Study of the Disease Process of Lymphangioleiomyomatosis | Congenital 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 sclerosis | Recruiting | Not stated | 2026-10-08 | NCT00001465 | |
| Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043) | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, angiomatosis, cancer, cardiovascular disorder, hereditary disease, neoplasm, nervous system disorder, neurocutaneous syndrome, vascular disorder, von Hippel-Lindau disease | Recruiting | Phase 3 | 2026-10-06 | NCT07405164 | |
| Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015) | Abnormalities, Multiple, Adenoma, Islet Cell, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, adenoma, angiomatosis, cardiovascular disorder, endocrine system disorder, epithelial neoplasm, hereditary disease, malignant endocrine neoplasm, neoplasm, nervous system disorder, neurocutaneous syndrome, neuroendocrine neoplasm, pancreas disorder, pancreatic neoplasm, pancreatic neuroendocrine tumor, paraganglioma, pheochromocytoma, pheochromocytoma-paraganglioma, primitive neuroectodermal tumor, vascular disorder, von Hippel-Lindau disease | Recruiting | Phase 2 | 2026-10-06 | NCT04924075 | |
| MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, 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, peripheral nervous system neoplasm, plexiform neurofibroma | Active, not recruiting | Phase 2 | 2026-10-06 | NCT03962543 | |
| Efficacy of Mirdametinib Alone or Combination With Radiotherapy for Germline and Sporadic NF1-Altered High-Grade Glioma | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, astrocytoma (excluding glioblastoma), epithelial neoplasm, glioblastoma, glioma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, peripheral nervous system disorder, primitive neuroectodermal tumor | Not yet recruiting | Phase 2 | 2026-10-05 | NCT07521657 | |
| Study of Cabozantinib With Selumetinib for Plexiform Neurofibromas | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, 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, peripheral nervous system neoplasm, plexiform neurofibroma | Recruiting | Phase 1 | 2026-10-02 | NCT06502171 | |
| Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study | Congenital 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 sclerosis | Recruiting | Phase 2 | 2026-10-02 | NCT05104983 | |
| Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, 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, peripheral nervous system neoplasm, plexiform neurofibroma | Recruiting | Not stated | 2026-10-02 | NCT02544022 | |
| National Eye Institute Biorepository for Retinal Diseases | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Complications, Embolism and Thrombosis, Venous Thrombosis, age-related macular degeneration, angiomatosis, cardiovascular disorder, diabetes mellitus, diabetic peripheral angiopathy, diabetic retinopathy, endocrine system disorder, eye disorder, hereditary disease, macular degeneration, nervous system disorder, neurocutaneous syndrome, retinal degeneration, retinal disorder, retinal vein occlusion, thrombotic disease, vascular disorder, von Hippel-Lindau disease | Recruiting | Not stated | 2026-10-02 | NCT01496625 | |
| Natural History Study of Patients With Neurofibromatosis Type 2 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ear Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Otorhinolaryngologic Neoplasms, acoustic neuroma, central nervous system cancer, central nervous system disorder, cranial nerve neoplasm, cranial nerve neuropathy, ependymoma, epithelial neoplasm, glioma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, meningioma, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neuroma, otorhinolaryngologic disease, peripheral nervous system neoplasm, primitive neuroectodermal tumor, retrocochlear disease, schwannoma, spinal cord disorder, spinal cord neoplasm, tumor of meninges, vascular cancer, vestibulocochlear nerve disorder | Recruiting | Not stated | 2026-10-02 | NCT00598351 | |
| ESIS in Pediatric DRE | Congenital 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 sclerosis | Active, not recruiting | Not stated | 2026-10-01 | NCT05469373 | |
| 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 epilepsy | Not yet recruiting | Phase 2 | 2026-09-29 | NCT07680322 | |
| Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics | Abnormalities, 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 disorder | Not yet recruiting | Not stated | 2026-09-28 | NCT07843823 | |
| Clinical and Demographic Characteristics of Adult p Atients With NEurofibromatosis in RUSsia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis | Recruiting | Not stated | 2026-09-25 | NCT07088991 | |
| NF-1, Nutraceutical Intervention | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, 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 | Active, not recruiting | Phase 1 | 2026-09-23 | NCT05363267 | |
| Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, astrocytoma (excluding glioblastoma), epithelial neoplasm, glioma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, low grade glioma, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, peripheral nervous system disorder, primitive neuroectodermal tumor | Active, not recruiting | Phase 1 / Phase 2 | 2026-09-21 | NCT01089101 | |
| 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 sclerosis | Active, not recruiting | Not applicable | 2026-09-18 | NCT06139172 | |
| 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 sclerosis | Active, not recruiting | Phase 4 | 2026-09-17 | NCT05252585 | |
| Cyclin-Dependent Kinase (CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type I (NF1) Related Atypical Neurofibromas | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, 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 | Recruiting | Phase 1 / Phase 2 | 2026-09-16 | NCT04750928 | |
| The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics | Chronic Disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cronkhite-Canada syndrome, Cysts, DNA repair disease, Digestive System Diseases, Digestive System Neoplasms, Disease Attributes, Dyskinesias, Familial Atypical Multiple Mole-Melanoma, Hyperpigmentation, Lynch syndrome, Melanosis, Neoplasms by Histologic Type, Neoplasms by Site, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pancreatic Cyst, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peutz-Jeghers syndrome, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, Spinocerebellar Ataxias, atactic disorder, non-human animal, ataxia telangiectasia, brain disorder, cardiovascular disorder, central nervous system disorder, cerebellar ataxia, cerebellar disorder, chronic pancreatitis, classic familial adenomatous polyposis, colonic disorder, colorectal neoplasm, digestive system disorder, digestive system neoplasm, hereditary disease, hereditary neoplastic syndrome, immune system disorder, inborn error of immunity, intestinal disorder, lentigo, melanocytic neoplasm, melanocytic nevus, melanoma, cutaneous malignant, susceptibility to, 2, metabolic disease, neoplasm, nervous system disorder, neurocutaneous syndrome, pancreas disorder, pancreatic ductal adenocarcinoma, pancreatitis, skin disorder, skin pigmentation disorder, telangiectasis, vascular disorder | Active, not recruiting | Not stated | 2026-09-15 | NCT05692596 | |
| MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, hereditary disease, hereditary neoplastic syndrome, 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, peripheral nervous system neoplasm, plexiform neurofibroma | Active, not recruiting | Phase 2 | 2026-09-15 | NCT02407405 |