central nervous system malformation
central nervous system malformation
Explore linked clinical trials. Standard reference: MONDO:0020022260 results · Page 1 of 11
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Study of ROC-101 in Patients With Pulmonary Arterial Hypertension (PAH) and Pulmonary Hypertension Associated With Interstitial Lung Disease (ILD-PH) (ROCSTAR STUDY) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, cardiovascular disorder, central nervous system malformation, hereditary disease, hereditary sensory and autonomic neuropathy, hypertensive disorder, inherited neurodegenerative disorder, interstitial lung disease, lung disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, pulmonary arterial hypertension, pulmonary hypertension, respiratory system disorder, vascular disorder | Recruiting | Phase 2 | 2026-10-08 | NCT07175038 | |
| 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 | |
| First-Trimester Screening of Open Neural Tube Defects Using Biometrics and Maternal Serum Markers | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, nervous system disorder | Recruiting | Not stated | 2026-10-07 | NCT07864142 | |
| Everolimus bAsed caLcineurin inhibiTor frEe immunosuppRession oNe Year AfTer lIver transplantatiON (ALTERNATION) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, central nervous system malformation, hereditary disease, hereditary sensory and autonomic neuropathy, inherited neurodegenerative disorder, liver disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy | Recruiting | Phase 3 | 2026-10-05 | NCT07739914 | |
| 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 | |
| Evaluating Efficacy of Tivozanib (AV-951) in Biliary Tract Cancers | Biliary Tract Neoplasms, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Neoplasms by Histologic Type, Neoplasms by Site, adenocarcinoma, bile duct disorder, bile duct neoplasm, biliary tract disorder, carcinoma, central nervous system malformation, cholangiocarcinoma, epithelial neoplasm, hereditary disease, hereditary sensory and autonomic neuropathy, inherited neurodegenerative disorder, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy | Recruiting | Phase 1 / Phase 2 | 2026-10-02 | NCT04645160 | |
| Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France | Charcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, autoimmune disease, autoimmune disorder of the nervous system, central nervous system malformation, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, inherited neurodegenerative disorder, nervous system disorder, neuritis, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathy | Not yet recruiting | Not stated | 2026-10-01 | NCT07851844 | |
| 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 | |
| Patch vs. No Patch Fetoscopic Meningomyelocele Repair Study | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, nervous system disorder | Active, not recruiting | Phase 1 | 2026-10-01 | NCT03794011 | |
| Motor Imagery-Supported Thoracic Expansion in Children With Spina Bifida | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Respiration Disorders, Respiratory Aspiration, central nervous system malformation, nervous system disorder, respiratory system disorder, spina bifida | Not yet recruiting | Not applicable | 2026-09-29 | NCT07846202 | |
| 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 | |
| NIS to Examine the Effectiveness of TDC in Patients With Metastatic Non-squamous NSCLC and High-risk Genetic Alterations | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neoplasms by Site, Thoracic Neoplasms, bronchial neoplasm, bronchogenic carcinoma, central nervous system malformation, hereditary disease, hereditary sensory and autonomic neuropathy, inherited neurodegenerative disorder, lung disorder, lung neoplasm, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, non-small cell lung carcinoma, peripheral nervous system disorder, polyneuropathy, respiratory system disorder, respiratory tract neoplasm | Recruiting | Not stated | 2026-09-28 | NCT06494540 | |
| Rare Disease Registry Database for Movement Disorders in Southern Anhui Province | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Neurologic Manifestations, Spinocerebellar Ataxias, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar ataxia, cerebellar disorder, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inherited neurodegenerative disorder, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, spinal cord disorder | Active, not recruiting | Not stated | 2026-09-24 | NCT07838883 | |
| Bowel Continence Across the Lifespan in People With Spina Bifida | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Fecal Incontinence, central nervous system malformation, colonic disorder, digestive system disorder, functional colonic disease, intestinal disorder, nervous system disorder, neurogenic bowel, rectal disorder, spina bifida | Recruiting | Not stated | 2026-09-24 | NCT07390318 | |
| Autologous Human Umbilical Cord Tissue Patch for Postnatal Closure of Open Neural Tube Defects | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, nervous system disorder, spina bifida | Recruiting | Not applicable | 2026-09-24 | NCT06929572 | |
| 9-ING-41 Combined With Retifanlimab, Plus Modified FOLFIRINOX for Patients With Advanced Pancreatic Adenocarcinoma (RiLEY) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary sensory and autonomic neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, pancreatic adenocarcinoma, peripheral nervous system disorder, polyneuropathy | Recruiting | Phase 1 | 2026-09-24 | NCT06896188 | |
| Study of ACR-2316 in Specific Advanced Solid Tumors | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Recurrence, central nervous system malformation, hereditary disease, hereditary sensory and autonomic neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy | Recruiting | Phase 1 / Phase 2 | 2026-09-23 | NCT06667141 | |
| High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project | Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, TDP-43 proteinopathy, amyotrophic lateral sclerosis, central nervous system disorder, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, metabolic disease, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, proteostasis deficiencies, spinal cord disorder | Recruiting | Not applicable | 2026-09-21 | NCT06881979 | |
| 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 | |
| NAIF 2.0 - COGNIFY | Cardiovascular Abnormalities, Central Nervous System Vascular Malformations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dural Arteriovenous Fistula, cardiovascular disorder, central nervous system malformation, nervous system disorder, vascular malformation | Recruiting | Not stated | 2026-09-17 | NCT07824297 | |
| Natural History Study for Charcot Marie Tooth Disease | Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2H, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease type 2B5, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2T, Charcot-Marie-Tooth disease type 2Y, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease, Type 2A, Charcot-Marie-Tooth disease, Type 2K, Charcot-Marie-Tooth disease, Type 4A, axonal form, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hereditary Motor and Sensory Neuropathy, Type IIC, Pathologic Processes, Pathological Conditions, Signs and Symptoms, autosomal dominant Charcot-Marie-Tooth disease type 2K, central nervous system malformation, disease, hereditary disease, hereditary motor and sensory neuropathy, hereditary neuropathy with liability to pressure palsies, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy | Recruiting | Not stated | 2026-09-17 | NCT05902351 | |
| 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 |