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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
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
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
Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X SyndromeCongenital 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 22026-08-28NCT06261502
The Neurocognitive Bases of Trust in Intellectual DisabilityAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, X-linked disease, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, psychiatric disorderRecruitingNot stated2026-08-05NCT07434037
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Tourette syndrome, X-linked disease, anxiety, anxiety disorder, attention deficit hyperactivity disorder, inattentive type, autism, autism spectrum disorder, basal ganglia disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, hamartoma, heart disorder, hereditary disease, hereditary neoplastic syndrome, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, oppositional defiant disorder, parathyroid gland disorder, pervasive developmental disorder, psychiatric disorder, tic disorder, tuberous sclerosisRecruitingPhase 22026-07-27NCT06081348
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X SyndromeCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Neurobehavioral Manifestations, Neurologic Manifestations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Sex Chromosome Disorders, Signs and Symptoms, X-linked disease, central nervous system disorder, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, psychiatric disorderRecruitingPhase 22026-07-17NCT07654114
Parent and Infant Inter(X)Action Intervention (PIXI)22q11.2 deletion syndrome, Abnormalities, Multiple, Angelman syndrome, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Chronobiology Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Duchenne muscular dystrophy, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Klinefelter syndrome, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Phelan-McDermid syndrome, Prader-Willi syndrome, Rett syndrome, Sex Chromosome Disorders, Smith-Magenis syndrome, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, developmental disability, disorder of sexual differentiation, endocrine system disorder, fragile X syndrome, gonadal disorder, gonadal dysgenesis, hamartoma, heart disorder, heart valve disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, nutritional disorder, obesity disorder, overnutrition, parathyroid gland disorder, psychiatric disorder, sex chromosome disorder of sex development, tuberous sclerosisEnrolling by invitationNot applicable2026-07-13NCT03836300
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- InfantCongenital 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 disorderRecruitingNot applicable2026-07-10NCT06560242
Early Check: Expanded Screening in Newborns3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosisActive, not recruitingNot stated2026-07-01NCT03655223
Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXSCongenital 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 disorderActive, not recruitingPhase 2 / Phase 32026-05-27NCT03802799
Optical Imaging in X-linked Disorders.Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, chromosomal disorder, creatine transporter deficiency, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorderRecruitingNot applicable2026-05-15NCT06868979
Development of Non-Invasive Prenatal Diagnosis for Single Gene DisordersAbnormalities, Multiple, Becker muscular dystrophy, Ciliopathies, Cognition Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Duchenne muscular dystrophy, Dyskinesias, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Huntington disease, Infant, Newborn, Diseases, Male Urogenital Diseases, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Polycystic Kidney, Autosomal Recessive, Sex Chromosome Disorders, Urogenital Diseases, X-linked disease, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, anemia, basal ganglia disorder, blood coagulation disease, brain disorder, central nervous system disorder, choreatic disease, chromosomal disorder, coagulation protein disease, cognitive disorder, cystic fibrosis, cystic kidney disease, dementia, familial hemolytic anemia, fragile X syndrome, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary neoplastic syndrome, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, kidney disorder, lung disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic syndrome, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis-Noonan syndrome, neuromuscular disease, pancreas disorder, polycystic kidney disease, proximal spinal muscular atrophy, psychiatric disorder, respiratory system disorder, sickle cell disease, urinary system disorderRecruitingNot stated2026-04-23NCT06147414
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental DisordersCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, autism, autism spectrum disorder, autism spectrum disorder 1, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderRecruitingNot applicable2026-03-30NCT06227780
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Brain Damage, Chronic, Brain Injuries, Traumatic, Cardiovascular Abnormalities, Cerebral Palsy, Athetoid, Chromosome Aberrations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniocerebral Trauma, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Hemic and Lymphatic Diseases, Hypoxia, Hypoxia, Brain, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, Signs and Symptoms, Respiratory, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, autism spectrum disorder, brain disorder, brain hypoxia - ischemia, brain injury, brain ischemia, cardiovascular disorder, central nervous system disorder, cerebral palsy, cerebral palsy spastic hemiplegic, cerebrovascular disorder, chromosomal disorder, congenital heart disease, developmental disability, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, injury, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, nervous system injury, neurodevelopmental disorder, parathyroid gland disorder, perinatal asphyxia, pervasive developmental disorder, psychiatric disorder, vascular disorderRecruitingNot stated2026-03-25NCT07493096
Speech-in-noise Perception in Autism and Fragile XCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, autism spectrum disorder, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderRecruitingNot applicable2026-03-19NCT06088589
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, parathyroid gland disorder, velocardiofacial syndromeRecruitingPhase 42026-03-18NCT00768820
Physical Activity and Community EmPOWERment Project46 XY differences of sex development, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Bone Diseases, Developmental, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cri-du-chat syndrome, De Lange Syndrome, Down syndrome, Eye Abnormalities, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Imprinting Disorders, Male Urogenital Diseases, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Rubinstein-Taybi syndrome, Sex Chromosome Disorders, Signs and Symptoms, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, WAGR syndrome, Williams syndrome, Wilms tumor, X-linked disease, aniridia, aortic valve disorder, aortic valve stenosis, autism spectrum disorder, autism, susceptibility to, X-linked 2, benign urinary system neoplasm, bone disorder, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, dysostosis, endocrine system disorder, eye disorder, fragile X syndrome, gonadal disorder, heart disorder, heart valve disorder, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, iris disorder, kidney cancer, kidney disorder, mixed neoplasm, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, nutritional disorder, obesity disorder, overnutrition, pervasive developmental disorder, psychiatric disorder, trisomy 13, urinary system disorder, uveal disorderRecruitingNot applicable2026-02-23NCT06740162
Inhibition of Aggressive Behavior in Participants With Fragile X SyndromeCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Psychomotor Agitation, Psychomotor Disorders, Sex Chromosome Disorders, Signs and Symptoms, X-linked disease, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorderNot yet recruitingPhase 22026-01-09NCT07328529
Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug ChallengeCongenital 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 disorderActive, not recruitingPhase 22025-12-23NCT05418049
Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual DisabilitiesAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, X-linked disease, attention deficit hyperactivity disorder, inattentive type, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, oppositional defiant disorder, psychiatric disorderEnrolling by invitationPhase 12025-12-15NCT05301361
An Open-Label Extension Study of BPN14770 in Subjects With Fragile X SyndromeCongenital 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 disorderActive, not recruitingPhase 32025-10-03NCT05367960
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool AgeCongenital 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 disorderRecruitingNot applicable2025-07-10NCT05957549
Effect of CBD on the BrainCongenital 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 disorderNot yet recruitingPhase 22025-02-17NCT06261450
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum DisorderCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, X-linked disease, autism spectrum disorder, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorderRecruitingNot applicable2024-11-08NCT06677866