13 results · Page 1 of 1

Swipe the table sideways for more columns.

TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Hematological Profile in Children With Numerical Chromosomal DisordersAbnormalities, 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 18Not yet recruitingNot stated2026-09-10NCT07807540
A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome Aneuploidies47,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 XRecruitingPhase 12026-07-22NCT07718997
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
Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter SyndromeCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Insulin Resistance, Klinefelter syndrome, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Sex Chromosome Disorders, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, glucose metabolism disease, gonadal disorder, hereditary disease, hyperinsulinism, hypogonadism, infertility disorder, metabolic disease, sex chromosome disorder of sex developmentRecruitingPhase 32026-05-11NCT05586802
Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders47,XYY syndrome, Abnormal Karyotype, Cardiovascular Abnormalities, Chromosome Aberrations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Aberrations, 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 XEnrolling by invitationNot stated2026-01-14NCT07341412
Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders47,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 XEnrolling by invitationNot stated2026-01-08NCT07304193
Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, RigshospitaletCongenital 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, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, sex chromosome disorder of sex developmentEnrolling by invitationNot stated2025-09-10NCT07142135
Thyroid Function and Structure in Klinefelter SyndromeCongenital 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, Urogenital Abnormalities, Urogenital Diseases, autoimmune disease, autoimmune thyroid disease, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, hypothyroidism, immune system disorder, sex chromosome disorder of sex development, thyroid gland disorder, thyroiditisRecruitingNot stated2025-03-30NCT05581147
Klinefelter Syndrome and Testosterone Treatment in PubertyCongenital 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, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, sex chromosome disorder of sex developmentRecruitingPhase 42025-02-19NCT06294990
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy47,XYY syndrome, 48,XXYY syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, communication disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, learning disability, nervous system disorder, neurodevelopmental disorder, pentasomy X, psychiatric disorder, sex chromosome disorder of sex development, tetrasomy X, trisomy XRecruitingNot stated2024-05-09NCT03396562
Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)Chromosome Aberrations, Chromosome Duplication, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Urogenital Abnormalities, Urogenital Diseases, aneuploidy, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, hypogonadism, sex chromosome disorder of sex development, tetrasomy, trisomyRecruitingNot stated2024-04-18NCT06373861
Growing up With the Young Endocrine Support System (YESS!)46 XY differences of sex development, Bone Diseases, Developmental, Bone Diseases, Endocrine, Cardiovascular Abnormalities, Combined Pituitary Hormone Deficiency, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dwarfism, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Sex Chromosome Disorders, Thyroid Dysgenesis, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, X-linked disease, adrenal gland disorder, adrenocortical insufficiency, adrenogenital syndrome, androgen insensitivity syndrome, autoimmune disease, bone disorder, brain disorder, cardiovascular disorder, central nervous system disorder, chromosomal disorder, congenital adrenal hyperplasia, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, hypogonadism, hypogonadotropic hypogonadism, hypopituitarism, hypothalamic disorder, immune system disorder, inborn errors of metabolism, metabolic disease, musculoskeletal system disorder, nervous system disorder, pituitary dwarfism, pituitary gland disorder, sex chromosome disorder of sex development, steroid inherited metabolic disorder, thyroid gland disorderNot yet recruitingNot applicable2023-09-07NCT04252001
GROWing Up With Rare GENEtic Syndromes22q11.2 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 disorderRecruitingNot stated2023-09-06NCT04463316