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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADSCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, autism, autism spectrum disorder, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderNot yet recruitingPhase 2 / Phase 32026-10-09NCT07439510
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway ImpairmentAbnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Froelich syndrome, Imprinting Disorders, Male Urogenital Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Parkes Weber syndrome, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, hereditary disease, hypogonadism, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutritionActive, not recruitingPhase 1 / Phase 22026-10-09NCT06239116
Observational Study of VYKAT™ XR in Patients With Prader-Willi SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutritionEnrolling by invitationNot stated2026-10-08NCT07450664
ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Rett syndrome, X-linked disease, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorderRecruitingPhase 1 / Phase 22026-10-08NCT06430385
Feasibility and Usability of a Virtual Reality SystemNeurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, autism spectrum disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderEnrolling by invitationNot applicable2026-10-08NCT06291532
Characterization of Nociception Phenotype in Individuals With Intellectual DisabilityNeurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, intellectual disability, nervous system disorder, neurodevelopmental disorder, psychiatric disorderRecruitingNot applicable2026-10-08NCT05473429
Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down SyndromeAbnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorderNot yet recruitingNot applicable2026-10-07NCT07658053
A Gene Therapy Study of RP-A501 in Male Patients With Danon DiseaseCardiomegaly, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Danon disease, Hypertrophy, Hypertrophy, Left Ventricular, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiomyopathy, cardiovascular disorder, disorder of glycogen metabolism, heart disorder, heart valve disorder, hereditary disease, hypertrophic cardiomyopathy, inborn carbohydrate metabolic disorder, inborn errors of metabolism, intellectual disability, lysosomal storage disease, metabolic disease, nervous system disorder, subvalvular aortic stenosisRecruitingPhase 22026-10-06NCT06092034
Impact of Bright Light Therapy on Prader-Willi SyndromeAbnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disorders of Excessive Somnolence, Dyssomnias, Excessive Daytime Sleepiness, Hyperphagia, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, Signs and Symptoms, Digestive, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition, psychiatric disorder, sleep-wake disorderActive, not recruitingNot applicable2026-10-06NCT05939453
FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, autism spectrum disorder, communication disorder, developmental disability, intellectual disability, learning disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderRecruitingNot stated2026-10-06NCT03718923
Escalating Doses of Memantine in Down Syndrome (MEDS-123)Abnormalities, Multiple, Alzheimer disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, chromosomal disorder, cognitive disorder, dementia, hereditary disease, intellectual disability, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, psychiatric disorder, tauopathyNot yet recruitingPhase 12026-10-05NCT07531940
NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypotension, Orthostatic, Menkes disease, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, X-linked disease, autonomic nervous system disorder, brain disorder, cardiovascular disorder, central nervous system disorder, disorder of pilosebaceous unit, hereditary disease, hypotensive disorder, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, intellectual disability, metabolic disease, nervous system disorder, orthostatic intolerance, primary dysautonomia, skin disorder, vascular disorderRecruitingPhase 1 / Phase 22026-10-05NCT07398508
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex DeficienciesBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, intellectual disability, metabolic disease, nervous system disorderRecruitingNot stated2026-10-05NCT03056794
Defining the Brain Phenotype of Children With Williams SyndromeAortic Stenosis, Supravalvular, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Williams syndrome, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, chromosomal disorder, heart disorder, heart valve disorder, hereditary disease, intellectual disability, nervous system disorderRecruitingNot stated2026-10-05NCT01132885
Vascular Function in Adults With Down SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorderRecruitingNot stated2026-10-02NCT07630207
A Phase 3 Study of Fenfluramine Hydrochloride in Rett SyndromeCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Rett syndrome, X-linked disease, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorderRecruitingPhase 32026-10-02NCT07503444
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, X-linked disease, connective tissue disorder, cutaneous mucinosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorderActive, not recruitingPhase 32026-10-02NCT04573023
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of GlycosylationCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Embolism and Thrombosis, Muscle Hypotonia, Neurobehavioral Manifestations, Neurologic Manifestations, Neuromuscular Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, cardiovascular disorder, congenital disorder of glycosylation, endocrine system disorder, glucose metabolism disease, hereditary disease, hypoglycemia, hypothyroidism, inborn carbohydrate metabolic disorder, inborn errors of metabolism, intellectual disability, metabolic disease, nervous system disorder, neurodevelopmental disorder, psychiatric disorder, thrombotic disease, thyroid gland disorder, vascular disorderRecruitingNot stated2026-10-02NCT02089789
Genome Medical Sequencing for Gene DiscoveryCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, hereditary disease, intellectual disability, nervous system disorder, neurodevelopmental disorder, psychiatric disorderRecruitingNot stated2026-10-02NCT01087320
A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic LeukemiaAbnormalities, Multiple, B-cell neoplasm, Burkitt lymphoma, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Virus Infections, Down syndrome, Epstein-Barr virus infection, Hemic and Lymphatic Diseases, Herpesviridae infectious disease, Infections, Neoplasms by Histologic Type, Neurobehavioral Manifestations, Neurologic Manifestations, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Virus Infections, chromosomal disorder, hematologic disorder, hereditary disease, immune system disorder, immunoproliferative disorder, intellectual disability, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoma, lymphoproliferative syndrome, neoplasm, nervous system disorder, viral infectious diseaseActive, not recruitingPhase 32026-10-01NCT03914625
Down Syndrome Obstructive Sleep ApneaAbnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorderRecruitingPhase 22026-09-30NCT06043440
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorderRecruitingPhase 22026-09-29NCT07209462
Exploring Sympathetic Nervous System Function in Individuals With Down SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, autonomic nervous system disorder, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, primary dysautonomiaRecruitingPhase 32026-09-28NCT07238465
An Open-Label Phase II Feasibility Study for the Use of Ublituximab in Adults With Down Syndrome Regression DisorderAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorderNot yet recruitingPhase 22026-09-23NCT07812181
A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type IICognition Disorders, Cognitive Dysfunction, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Death, Sudden, Infant Death, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin and Connective Tissue Diseases, Sudden Infant Death, X-linked disease, cognitive disorder, connective tissue disorder, cutaneous mucinosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lysosomal storage disease, metabolic disease, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, psychiatric disorderActive, not recruitingPhase 2 / Phase 32026-09-21NCT05208281