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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
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
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
The FBRI VTC Neuromotor Research ClinicBrain Damage, Chronic, Brain Injuries, Traumatic, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniocerebral Trauma, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, autism, autism spectrum disorder, brain disorder, brain injury, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebral palsy, injury, microcephaly, musculoskeletal system disorder, nervous system disorder, nervous system injury, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderRecruitingNot stated2026-01-21NCT03325946
Register for Patients With Thyroid Hormone Resistance.Allan-Herndon-Dudley syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Dyskinesias, Malformations of Cortical Development, Group I, Muscle Hypotonia, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Neuromuscular Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, central nervous system malformation, cerebral cortical dysplasia, communication disorder, dystonic disorder, endocrine system disorder, hyperthyroxinemia, hypothyroidism, intellectual disability, learning disability, microcephaly, musculoskeletal system disorder, nervous system disorder, neurodevelopmental disorder, psychiatric disorder, thyroid gland disorder, thyroid hormone resistance syndrome, visual epilepsyRecruitingNot stated2024-08-22NCT06566066
Human Epilepsy Genetics--Neuronal Migration Disorders StudyChoristoma, Cognition Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Malformations of Cortical Development, Group II, Malformations of Cortical Development, Group III, Musculoskeletal Abnormalities, Neurologic Manifestations, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cognitive disorder, epilepsy, lissencephaly spectrum disorders, microcephaly, musculoskeletal system disorder, nervous system disorder, polymicrogyria, psychiatric disorder, schizencephaly, visual epilepsyRecruitingNot stated2023-09-21NCT00041600