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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway ImpairmentAbnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Froelich syndrome, Imprinting Disorders, Male Urogenital Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Parkes Weber syndrome, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, hereditary disease, hypogonadism, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutritionActive, not recruitingPhase 1 / Phase 22026-10-09NCT06239116
An Extension Trial of Asedebart in Participants With Congenital Adrenal HyperplasiaCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderNot yet recruitingPhase 22026-10-05NCT07859293
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated GonadectomyBrain 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 developmentRecruitingNot stated2026-10-05NCT04948658
Data Collection Study of Pediatric and Adolescent Gynecology ConditionsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Urogenital Abnormalities, Urogenital Diseases, disorder of sexual differentiation, endocrine system disorder, gonadal disorderRecruitingNot stated2026-10-05NCT04717349
Natural History of Noncirrhotic Portal HypertensionCardiovascular 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 disorderRecruitingNot stated2026-10-02NCT02417740
Efficacy, Safety, Tolerability, and Pharmacokinetics of NBIP-01435 in Adult Participants With Classic Congenital Adrenal Hyperplasia (CAH)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, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderNot yet recruitingPhase 22026-09-30NCT07850739
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 DisordersBone 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 developmentRecruitingPhase 32026-09-30NCT07221851
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)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, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, classic congenital adrenal hyperplasia, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderRecruitingPhase 2 / Phase 32026-09-30NCT07159841
A Study to Evaluate Atumelnant in Adults With Congenital Adrenal HyperplasiaCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, classic congenital adrenal hyperplasia, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderRecruitingPhase 32026-09-30NCT07144163
SEMAFORCRANIO : Multicenter, Double-blind, Parallel, Randomized Controlled Trial of the Efficacy of Semaglutide in Hypothalamic Obesity Secondary to Craniopharyngioma in Children Aged 12 to 17 YearsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniopharyngioma, Child, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Froelich syndrome, Male Urogenital Diseases, Neoplasms by Histologic Type, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Urogenital Abnormalities, Urogenital Diseases, craniopharyngioma, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, hypogonadism, neoplasm, primitive neuroectodermal tumorNot yet recruitingPhase 32026-09-29NCT07845994
Metyrapone Study for Patients Diagnosed With Mild Autonomous Cortisol Secretion - MACSCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cushing syndrome, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Paraneoplastic Endocrine Syndromes, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenal gland hyperfunction, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, ectopic ACTH secretion syndrome, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, neoplasm, paraneoplastic syndrome, steroid inherited metabolic disorderRecruitingPhase 22026-09-25NCT07138274
Metyrapone for Mild Autonomous Cortisol Secretion (MACS)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cushing syndrome, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Paraneoplastic Endocrine Syndromes, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenal gland hyperfunction, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, ectopic ACTH secretion syndrome, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, neoplasm, paraneoplastic syndrome, steroid inherited metabolic disorderActive, not recruitingPhase 22026-09-25NCT06106295
Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years OldCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderRecruitingPhase 22026-09-16NCT07536269
Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner SyndromeCardiovascular 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 developmentRecruitingNot stated2026-09-11NCT06507007
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
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of OMS1620Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderNot yet recruitingPhase 12026-09-09NCT07811089
Natural History Study of Patients With Excess AndrogenCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Familial Testotoxicosis, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenocortical insufficiency, adrenogenital syndrome, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, precocious puberty, steroid inherited metabolic disorderRecruitingNot stated2026-09-08NCT00250159
Polycystic Ovary Syndrome in Type 1 Diabetes46,XX disorder of sex development, Adnexal Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Hyperandrogenism, Insulin Resistance, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenogenital syndrome, autoimmune disease, diabetes mellitus, disorder of sexual differentiation, endocrine system disorder, female reproductive system disorder, glucose metabolism disease, gonadal disorder, hyperinsulinism, immune system disorder, metabolic disease, neoplasm, ovarian cyst, ovarian disorder, polycystic ovary syndrome, type 1 diabetes mellitusRecruitingNot stated2026-09-03NCT07490964
Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development46 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 developmentRecruitingNot stated2026-09-03NCT06692049
Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control StudyCardiovascular 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 disorderNot yet recruitingNot stated2026-09-02NCT07799012
Parenting and CAH - 21-hydroxylase DeficiencyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderRecruitingNot stated2026-08-31NCT06900153
Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Less Than 2 Years OldCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderActive, not recruitingPhase 22026-08-28NCT07187375
Pre-pubertal Low Dose Transdermal Estradiol in Turner SyndromeAdnexal 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 developmentNot yet recruitingPhase 22026-08-25NCT07784582
Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner SyndromeAdnexal 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 developmentRecruitingPhase 42026-08-25NCT06834594
Pediatric Congenital Adrenal Hyperplasia Management: Regret and Long-term OutcomesCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, classic congenital adrenal hyperplasia, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, metabolic disease, steroid inherited metabolic disorderRecruitingNot stated2026-08-24NCT07781267