Aortic Stenosis, Supravalvular | ClinicalTrials HQ

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Trial	Conditions	Status	Phase	Updated	More info	NCT ID
Defining the Brain Phenotype of Children With Williams Syndrome	Aortic 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 disorder	Recruiting	Not stated	2026-10-05		NCT01132885
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 sclerosis	Enrolling by invitation	Not applicable	2026-07-13		NCT03836300
Early Check: Expanded Screening in Newborns	3-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, xanthomatosis	Active, not recruiting	Not stated	2026-07-01		NCT03655223
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants	Aortic Stenosis, Supravalvular, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Ventricular Outflow Obstruction, Williams syndrome, aortic valve disorder, aortic valve stenosis, autism, autism spectrum disorder, cardiovascular disorder, chromosomal disorder, heart disorder, heart valve disorder, hereditary disease, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder	Recruiting	Not stated	2026-06-08		NCT06930417
A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls	Aortic 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 disorder	Not yet recruiting	Not stated	2026-04-17		NCT07537374
Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder	Aortic Stenosis, Supravalvular, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Williams syndrome, aortic valve disorder, aortic valve stenosis, autism, autism spectrum disorder, cardiovascular disorder, chromosomal disorder, heart disorder, heart valve disorder, hereditary disease, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder	Not yet recruiting	Not stated	2026-04-03		NCT07509879
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders	22q11.2 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 disorder	Recruiting	Not stated	2026-03-25		NCT07493096
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome	22q11.2 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 syndrome	Recruiting	Phase 4	2026-03-18		NCT00768820
Clemastine Treatment in Individuals With Williams Syndrome	Aortic 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 disorder	Active, not recruiting	Phase 2	2026-03-06		NCT06087757
Physical Activity and Community EmPOWERment Project	46 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 disorder	Recruiting	Not applicable	2026-02-23		NCT06740162
Phonological Constraints on Language Development in Individuals With Williams Syndrome	Aortic 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 disorder	Recruiting	Not applicable	2025-12-16		NCT07285720
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	3-methylglutaconic aciduria type 5, 46 XY differences of sex development, 4p16.3 microduplication syndrome, Abnormalities, Multiple, Alagille syndrome, Alstrom syndrome, Amino Acid Transport Disorders, Inborn, Amnesia, Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, Aortic Stenosis, Supravalvular, Arterial Occlusive Diseases, Ataxia-Telangiectasia Variant, Axenfeld-Rieger syndrome, Bacterial Infections and Mycoses, Beckwith-Wiedemann syndrome, Blau syndrome, Bohring-Opitz syndrome, Bone Diseases, Developmental, Bone Diseases, Metabolic, Borrelia infectious disease, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cayman type cerebellar ataxia, Charlevoix-Saguenay spastic ataxia, Chronic Disease, Ciliopathies, Cockayne syndrome, Coffin-Lowry syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, De Lange Syndrome, Deafness, Deglutition Disorders, Denys-Drash syndrome, Digestive System Abnormalities, Digestive System Diseases, Digestive System Fistula, Disease Attributes, Disorders of Excessive Somnolence, Dwarfism, Dyskinesias, Dyssomnias, Ear Diseases, Emanuel syndrome, Eosinophilic enteropathy, Eye Abnormalities, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fibrosis, Fistula, Frasier syndrome, Friedreich ataxia, Frontotemporal Lobar Degeneration, Growth Deficiency and Mental Retardation with Facial Dysmorphism, Halitosis, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hirschsprung disease, Hyperglycinemia, Nonketotic, Hypophosphatasia, Adult, Hypophosphatasia, Perinatal Lethal, Imprinting Disorders, Infections, KBG syndrome, Kabuki syndrome, Kawasaki disease, Kennedy disease, Kleine-Levin syndrome, Klippel-Feil syndrome, Kyphosis, Lambert-Eaton myasthenic syndrome, Leber congenital amaurosis, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lyme disease, Lymphohistiocytosis, Hemophagocytic, Lysosomal Storage Diseases, Nervous System, Machado-Joseph disease, Machado-Joseph disease type 1, Machado-Joseph disease type 2, Machado-Joseph disease type 3, Malan overgrowth syndrome, Male Urogenital Diseases, Mannosidase Deficiency Diseases, Memory Disorders, Moyamoya disease, Muscle Hypertonia, Muscle Spasticity, Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Myhre syndrome, Myoclonus, Myoclonus, Nocturnal, NARP syndrome, Neglected Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neuroinflammatory Diseases, Neurologic Manifestations, Neuromuscular Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Olivary Degeneration, Optic Atrophy, Autosomal Dominant, PHARC syndrome, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Peters anomaly, Pitt-Hopkins syndrome, Postoperative Complications, Potocki-Shaffer syndrome, Primary Immunodeficiency Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, Rare Diseases, Sacral agenesis, Sacral defect and anterior sacral meningocele, Scheuermann disease, Sensation Disorders, Signs and Symptoms, Signs and Symptoms, Digestive, Skin and Connective Tissue Diseases, Skraban-Deardorff syndrome, Sleep Disorders, Intrinsic, Spinal Curvatures, Spinal Osteochondrosis, Spinocerebellar Ataxia, Autosomal Recessive 8, Spinocerebellar Ataxias, Spinocerebellar Degenerations, Spinocerebellar ataxia 8, Stickler syndrome type 1, Stickler syndrome type 2, Sulfatidosis, TDP-43 proteinopathy, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, WAGR syndrome, Warburg Sjo Fledelius syndrome, Wiedemann-Steiner syndrome, Williams syndrome, Wilms tumor, Wolf-Hirschhorn syndrome, X-linked cerebellar ataxia, X-linked disease, X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked non progressive cerebellar ataxia, X-linked progressive cerebellar ataxia, X-linked spinocerebellar ataxia type 3, X-linked spinocerebellar ataxia type 4, achalasia, acquired ataxia, acrodysostosis, adrenal gland disorder, adrenocortical insufficiency, adult Refsum disease, adult hypophosphatasia, anal fistula, anemia, aniridia, aniridia-absent patella syndrome, aortic valve disorder, aortic valve stenosis, arginase deficiency, atactic disorder, non-human animal, ataxia neuropathy spectrum, ataxia telangiectasia, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, ataxia-telangiectasia-like disorder, atypical hemolytic-uremic syndrome, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, autosomal dominant cerebellar ataxia, autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia type III, autosomal dominant cerebellar ataxia type IV, autosomal dominant cerebellar ataxia, deafness and narcolepsy, autosomal dominant spastic ataxia, autosomal recessive ataxia due to PEX10 deficiency, autosomal recessive ataxia due to ubiquinone deficiency, autosomal recessive ataxia, Beauce type, autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia with late-onset spasticity, autosomal recessive congenital cerebellar ataxia, autosomal recessive degenerative and progressive cerebellar ataxia, autosomal recessive metabolic cerebellar ataxia, autosomal recessive spastic ataxia, autosomal recessive spinocerebellar ataxia 12, autosomal recessive spinocerebellar ataxia 7, autosomal recessive syndromic cerebellar ataxia, bacterial infectious disease, basal ganglia disorder, benign paroxysmal tonic upgaze of childhood with ataxia, benign urinary system neoplasm, beta-mannosidosis, bile duct disorder, biliary atresia, biliary tract disorder, blood platelet disease, bone disorder, brachydactyly-nystagmus-cerebellar ataxia syndrome, brain disorder, breast implant-associated anaplastic large cell lymphoma, cardiovascular disorder, carotid artery disorder, cataract-ataxia-deafness syndrome, cauda equina syndrome, caudal regression sequence, central nervous system disorder, central nervous system infectious disorder, central nervous system malformation, cerebellar ataxia, cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, cerebellar ataxia-ectodermal dysplasia syndrome, cerebellar ataxia-hypogonadism syndrome, cerebellar disorder, cerebral arterial disease, cerebrovascular disorder, childhood hypophosphatasia, cholestasis, chromosomal disorder, chromosome 1p36 deletion syndrome, chronic recurrent multifocal osteomyelitis, chronic renal failure syndrome, cirrhosis of liver, cognitive disorder, colonic disorder, congenital heart disease, congenital sucrase-isomaltase deficiency, connective tissue disorder, cranial nerve neuropathy, cystinosis, dementia, demyelinating disease, diffuse scleroderma, digestive system disorder, dimethylglycine dehydrogenase deficiency, disease, disorder of glycogen metabolism, disorder of sexual differentiation, dyskinesia of esophagus, dysostosis, early-onset cerebellar ataxia with retained tendon reflexes, endocrine system disorder, eosinophilic gastroenteritis, episodic ataxia type 1, episodic ataxia type 2, episodic ataxia type 3, episodic ataxia type 4, episodic ataxia type 5, episodic ataxia type 6, episodic ataxia type 7, esophageal disorder, eye disorder, familial caudal dysgenesis, familial isolated deficiency of vitamin E, fragile X-associated tremor/ataxia syndrome, frontotemporal dementia, gonadal disorder, gram-negative bacterial infections, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemolytic-uremic syndrome, hereditary ataxia, hereditary disease, hereditary episodic ataxia, hereditary motor and sensory neuropathy, hereditary neoplastic syndrome, hereditary optic atrophy, hereditary sensory and autonomic neuropathy, hereditary sensory neuropathy-deafness-dementia syndrome, histiocytosis, hyperacusis, hypertrophic olivary degeneration, hypophosphatasia, idiopathic achalasia, idiopathic gastroparesis, idiopathic hypersomnia, idiopathic hypersomnia with long sleep time, idiopathic hypersomnia without long sleep time, ileus, 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, inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, infantile hypophosphatasia, inherited neurodegenerative disorder, inherited retinal dystrophy, intellectual disability, intellectual disability-sparse hair-brachydactyly syndrome, intestinal disorder, intestinal fistula, intestinal obstruction, intestinal pseudo-obstruction, intracranial arterial disease, intrahepatic cholestasis, iris disorder, isolated aniridia, juvenile myasthenia gravis, juvenile nephropathic cystinosis, kidney cancer, kidney disorder, kidney failure, laryngeal papillomatosis, leiomyosarcoma, leiomyosarcoma of the cervix uteri, leiomyosarcoma of the corpus uteri, leukodystrophy, leukoencephalopathy with calcifications and cysts, liver disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malabsorption syndrome, malignant endocrine neoplasm, maternally-inherited Leigh syndrome, megacolon, meningitis, metabolic disease, metachromatic leukodystrophy, metaphyseal chondrodysplasia, Jansen type, mismatch repair cancer syndrome 1, mixed neoplasm, motor neuron disorder, movement disorder, mucolipidosis, mucolipidosis type IV, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, multiple endocrine neoplasia type 4, multiple system atrophy, multiple system atrophy, cerebellar type, multiple system atrophy, parkinsonian type, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myoclonus-cerebellar ataxia-deafness syndrome, myomatous neoplasm, myopathy, myofibrillar, 9, with early respiratory failure, narcolepsy, narcolepsy without cataplexy, neonatal myasthenia gravis, neoplasm, nephropathic cystinosis, nephropathic infantile cystinosis, nerve compression syndrome, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, non-Langerhans cell histiocytosis, oculocerebrorenal syndrome, oculopharyngeal muscular dystrophy, odontohypophosphatasia, optic atrophy, optic nerve disorder, osteochondrosis, otorhinolaryngologic disease, paraneoplastic syndrome, perinatal lethal hypophosphatasia, peripheral nervous system disorder, peroxisome biogenesis disorder 4B, polyneuropathy, polyradiculoneuropathy, prenatal benign hypophosphatasia, primary biliary cholangitis, primary dysautonomia, proteostasis deficiencies, psychiatric disorder, recessive mitochondrial ataxia syndrome, rectal disorder, recurrent respiratory papillomatosis, renal tubular transport disease, retinal degeneration, retinal disorder, retinitis pigmentosa, sarcoma, scleroderma, short bowel syndrome, silver-Russell syndrome due to 11p15 microduplication, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, skin disorder, skin vascular disease, sleep-wake disorder, small intestine leiomyosarcoma, spastic ataxia, spastic ataxia 3, spastic ataxia 7, spasticity-ataxia-gait anomalies syndrome, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, spinocerebellar ataxia 7, spinocerebellar ataxia type 1, spinocerebellar ataxia type 10, spinocerebellar ataxia type 11, spinocerebellar ataxia type 12, spinocerebellar ataxia type 13, spinocerebellar ataxia type 14, spinocerebellar ataxia type 15/16, spinocerebellar ataxia type 17, spinocerebellar ataxia type 18, spinocerebellar ataxia type 19/22, spinocerebellar ataxia type 2, spinocerebellar ataxia type 20, spinocerebellar ataxia type 21, spinocerebellar ataxia type 23, spinocerebellar ataxia type 25, spinocerebellar ataxia type 26, spinocerebellar ataxia type 27, spinocerebellar ataxia type 28, spinocerebellar ataxia type 29, spinocerebellar ataxia type 30, spinocerebellar ataxia type 31, spinocerebellar ataxia type 32, spinocerebellar ataxia type 34, spinocerebellar ataxia type 35, spinocerebellar ataxia type 36, spinocerebellar ataxia type 37, spinocerebellar ataxia type 4, spinocerebellar ataxia type 5, spinocerebellar ataxia type 6, spinocerebellar ataxia type 8, spinocerebellar ataxia with epilepsy, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, spirochaetales infections, sporadic adult-onset ataxia of unknown etiology, syndromic disease, synucleinopathy, systemic sclerosis, telangiectasis, thrombocytopenia, thrombotic microangiopathy, tick-borne infectious disease, transient global amnesia, triple-A syndrome, urea cycle disorder, uremia, urinary system disorder, uveal disorder, vascular disorder, vasculitis, vector-borne disease, vertebral column disorder, viral infection of central nervous system, viral infectious disease, viral meningitis	Recruiting	Not stated	2025-05-29		NCT01793168
GROWing Up With Rare GENEtic Syndromes	22q11.2 deletion syndrome, 46 XY differences of sex development, 48,XXYY syndrome, Abnormalities, Multiple, Allan-Herndon-Dudley syndrome, Aortic Stenosis, Supravalvular, Bardet-Biedl syndrome, Blepharophimosis syndrome Ohdo type, Bone Diseases, Developmental, CHARGE syndrome, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, De Lange Syndrome, Deaf-Blind Disorders, Deafness, DiGeorge syndrome, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Jacobsen Distal 11q Deletion Syndrome, Kallmann syndrome, Klinefelter syndrome, Limb Deformities, Congenital, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Noonan syndrome, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Rett syndrome, Saethre-Chotzen syndrome, Sensation Disorders, Sex Chromosome Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, adrenal gland disorder, adrenogenital syndrome, aortic valve disorder, aortic valve stenosis, blepharophimosis - intellectual disability syndrome, Ohdo type, blindness (disorder), blood platelet disease, bone disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, coloboma, congenital adrenal hyperplasia, congenital heart disease, connective tissue disorder, craniosynostosis, disorder of sexual differentiation, dysostosis, endocrine system disorder, eye disorder, gonadal disorder, gonadal dysgenesis, hamartoma, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, hypothalamic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, non-acquired combined pituitary hormone deficiency, nutritional disorder, obesity disorder, otorhinolaryngologic disease, overnutrition, parathyroid gland disorder, retinitis pigmentosa, sex chromosome disorder of sex development, steroid inherited metabolic disorder, syndactyly, synostosis, tetrasomy X, thrombocytopenia, tuberous sclerosis, velocardiofacial syndrome, vision disorder	Recruiting	Not stated	2023-09-06		NCT04463316