Sex Chromosome Disorders
Sex Chromosome Disorders
Explore linked clinical trials. Standard reference: MESH:M037337065 results · Page 1 of 3
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS | Congenital 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 disorder | Not yet recruiting | Phase 2 / Phase 3 | 2026-10-09 | NCT07439510 | |
| Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, brain disorder, cardiovascular disorder, central nervous system disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, galactosemia, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, metabolic disease, nervous system disorder, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-10-05 | NCT04948658 | |
| Natural History of Noncirrhotic Portal Hypertension | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypertrophy, Idiopathic Noncirrhotic Portal Hypertension, Infant, Newborn, Diseases, Male Urogenital Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Splenomegaly, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, cystic fibrosis, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, immune system disorder, inborn error of immunity, isolated congenital hepatic fibrosis, liver disorder, lung disorder, pancreas disorder, portal hypertension, respiratory system disorder, sex chromosome disorder of sex development, varicose disease, vascular disorder | Recruiting | Not stated | 2026-10-02 | NCT02417740 | |
| Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders | Bone Diseases, Developmental, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Dwarfism, Failure to Thrive, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Musculoskeletal Abnormalities, Noonan syndrome, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, bone disorder, cardiovascular disorder, chromosomal disorder, congenital heart disease, connective tissue disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, musculoskeletal system disorder, sex chromosome disorder of sex development | Recruiting | Phase 3 | 2026-09-30 | NCT07221851 | |
| 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 disorder | Recruiting | Phase 2 | 2026-09-29 | NCT07209462 | |
| 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 | |
| Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ear Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hearing Loss, Sensorineural, Male Urogenital Diseases, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Sex Chromosome Disorders, Signs and Symptoms, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, inner ear disorder, nervous system disorder, otorhinolaryngologic disease, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-09-11 | NCT06507007 | |
| Hematological Profile in Children With Numerical Chromosomal Disorders | Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Trisomy 18 Syndrome, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, hypogonadism, intellectual disability, nervous system disorder, sex chromosome disorder of sex development, trisomy 18 | Not yet recruiting | Not stated | 2026-09-10 | NCT07807540 | |
| Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development | 46 XY differences of sex development, 46,XX ovotesticular disorder of sex development, 46,XY sex reversal 5, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Sex Chromosome Disorders, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-09-03 | NCT06692049 | |
| Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Sex Chromosome Disorders, Skin Diseases, Metabolic, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, familial partial lipodystrophy, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, laminopathy, lipodystrophy, metabolic disease, sex chromosome disorder of sex development, skin disorder | Not yet recruiting | Not stated | 2026-09-02 | NCT07799012 | |
| Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome | 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 disorder | Recruiting | Phase 2 | 2026-08-28 | NCT06261502 | |
| Pre-pubertal Low Dose Transdermal Estradiol in Turner Syndrome | Adnexal Diseases, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Male Urogenital Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, female reproductive system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, ovarian disorder, primary ovarian failure, sex chromosome disorder of sex development | Not yet recruiting | Phase 2 | 2026-08-25 | NCT07784582 | |
| Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome | Adnexal Diseases, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Male Urogenital Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, female reproductive system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, ovarian disorder, primary ovarian failure, sex chromosome disorder of sex development | Recruiting | Phase 4 | 2026-08-25 | NCT06834594 | |
| A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9 | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Musculoskeletal Abnormalities, Noonan syndrome, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, connective tissue disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, musculoskeletal system disorder, sex chromosome disorder of sex development | Active, not recruiting | Phase 3 | 2026-08-13 | NCT05723835 | |
| The Neurocognitive Bases of Trust in Intellectual Disability | Abnormalities, 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 disorder | Recruiting | Not stated | 2026-08-05 | NCT07434037 | |
| Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders | 22q11.2 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 sclerosis | Recruiting | Phase 2 | 2026-07-27 | NCT06081348 | |
| A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome Aneuploidies | 47,XYY syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, hypogonadism, sex chromosome disorder of sex development, trisomy X | Recruiting | Phase 1 | 2026-07-22 | NCT07718997 | |
| The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short Stature | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, sex chromosome disorder of sex development | Recruiting | Phase 3 | 2026-07-22 | NCT07614152 | |
| Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature | Bone Diseases, Developmental, Bone Diseases, Endocrine, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dwarfism, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, bone disorder, brain disorder, cardiovascular disorder, central nervous system disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, hypopituitarism, hypothalamic disorder, musculoskeletal system disorder, nervous system disorder, pituitary dwarfism, pituitary gland disorder, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-07-21 | NCT04798690 | |
| Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome | Congenital 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 disorder | Recruiting | Phase 2 | 2026-07-17 | NCT07654114 | |
| 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 | |
| Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant | 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 disorder | Recruiting | Not applicable | 2026-07-10 | NCT06560242 | |
| 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 | |
| A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Musculoskeletal Abnormalities, Noonan syndrome, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, connective tissue disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, musculoskeletal system disorder, sex chromosome disorder of sex development | Active, not recruiting | Phase 3 | 2026-06-12 | NCT05330325 | |
| Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS | 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 disorder | Active, not recruiting | Phase 2 / Phase 3 | 2026-05-27 | NCT03802799 |