steroid inherited metabolic disorder
steroid inherited metabolic disorder
Explore linked clinical trials. Standard reference: MONDO:000552331 results · Page 1 of 2
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| An Extension Trial of Asedebart in Participants With Congenital Adrenal Hyperplasia | 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 disorder | Not yet recruiting | Phase 2 | 2026-10-05 | NCT07859293 | |
| 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 disorder | Not yet recruiting | Phase 2 | 2026-09-30 | NCT07850739 | |
| 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 disorder | Recruiting | Phase 2 / Phase 3 | 2026-09-30 | NCT07159841 | |
| A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia | 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 disorder | Recruiting | Phase 3 | 2026-09-30 | NCT07144163 | |
| Metyrapone Study for Patients Diagnosed With 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 disorder | Recruiting | Phase 2 | 2026-09-25 | NCT07138274 | |
| 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 disorder | Active, not recruiting | Phase 2 | 2026-09-25 | NCT06106295 | |
| Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old | 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 disorder | Recruiting | Phase 2 | 2026-09-16 | NCT07536269 | |
| Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of OMS1620 | 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 disorder | Not yet recruiting | Phase 1 | 2026-09-09 | NCT07811089 | |
| Natural History Study of Patients With Excess Androgen | Congenital 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 disorder | Recruiting | Not stated | 2026-09-08 | NCT00250159 | |
| Parenting and CAH - 21-hydroxylase Deficiency | 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 disorder | Recruiting | Not stated | 2026-08-31 | NCT06900153 | |
| Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Less Than 2 Years Old | 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 disorder | Active, not recruiting | Phase 2 | 2026-08-28 | NCT07187375 | |
| Pediatric Congenital Adrenal Hyperplasia Management: Regret and Long-term Outcomes | 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, 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 disorder | Recruiting | Not stated | 2026-08-24 | NCT07781267 | |
| Development of Healthcare Transition for Patients With Congenital Adrenal Hyperplasia | 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 disorder | Not yet recruiting | Not stated | 2026-08-21 | NCT07611786 | |
| Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism | Abnormalities, Multiple, CHILD syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, Smith-Lemli-Opitz syndrome, desmosterolosis, hereditary disease, inborn errors of metabolism, lathosterolosis, metabolic disease, steroid inherited metabolic disorder | Recruiting | Not stated | 2026-08-17 | NCT05047354 | |
| Evaluation of Circadian Hormonal Balance: LC-MS/MS Measurement of Salivary and Serum Steroids in Patients With Congenital Adrenal Hyperplasia | 46,XX disorder of sex development, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperandrogenism, 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, steroid inherited metabolic disorder | Not yet recruiting | Not stated | 2026-07-21 | NCT07718230 | |
| 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 | |
| An Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia | 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 disorder | Recruiting | Phase 2 | 2026-06-29 | NCT06712823 | |
| Hydrocortisone Modified-release in Adults: Real-world Monitoring of Longitudinal Outcomes in coNgenital Adrenal hYperplasia | 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 disorder | Not yet recruiting | Not stated | 2026-06-08 | NCT07622030 | |
| Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia | 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 disorder | Active, not recruiting | Phase 3 | 2026-05-11 | NCT04490915 | |
| Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC) | 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 disorder | Recruiting | Not stated | 2026-03-16 | NCT07473804 | |
| A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia | 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 disorder | Recruiting | Phase 1 / Phase 2 | 2026-03-09 | NCT05669950 | |
| Isturisa Treatment in Mild Autonomous Cortisol Secretion( MACS) | 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, Paraneoplastic Endocrine Syndromes, Urogenital Abnormalities, Urogenital Diseases, adrenal gland disorder, adrenogenital syndrome, cardiovascular disorder, congenital adrenal hyperplasia, disorder of sexual differentiation, ectopic ACTH secretion syndrome, endocrine system disorder, gonadal disorder, hereditary disease, hypertensive disorder, inborn errors of metabolism, metabolic disease, neoplasm, paraneoplastic syndrome, steroid inherited metabolic disorder, vascular disorder | Recruiting | Phase 4 | 2026-03-05 | NCT07247058 | |
| Impact of 1 mg Osilodrostat Therapy on 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 disorder | Recruiting | Phase 2 | 2026-02-11 | NCT07104812 | |
| Institutional Registry of Rare Diseases | Abnormalities, Multiple, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cushing syndrome, Digestive System Abnormalities, Digestive System Diseases, Disease Attributes, Eosinophilia, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Complement Deficiency Diseases, Hirschsprung disease, Hypersensitivity, Delayed, Hypersensitivity, Immediate, Immunoglobulin G4-Related Disease, Imprinting Disorders, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Mast Cell Activation Disorders, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rare Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Urogenital Abnormalities, Urogenital Diseases, Wilson disease, adrenal gland disorder, adrenal gland hyperfunction, adrenogenital syndrome, amyloidosis, angioedema, angiomatosis, aortic valve disorder, aortic valve stenosis, autoimmune disease, basal ganglia disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, chromosomal disorder, colonic disorder, congenital adrenal hyperplasia, connective tissue neoplasm, demyelinating disease, digestive system disorder, disorder of sexual differentiation, ectodermal dysplasia syndrome, endocrine system disorder, eosinophilic esophagitis, esophageal disorder, esophagitis, gastroenteritis, gonadal disorder, heart disorder, heart valve disorder, hematologic disorder, hemorrhagic disease, hereditary angioedema, hereditary disease, hereditary hemorrhagic telangiectasia, hereditary neoplastic syndrome, hereditary skin disorder, hypertensive disorder, hypertrophic cardiomyopathy, immune system disorder, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inflammatory bowel disease, inherited neurodegenerative disorder, intellectual disability, intestinal disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, mastocytosis, megacolon, metabolic disease, movement disorder, multiple endocrine neoplasia, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, nutritional disorder, obesity disorder, overnutrition, paraganglioma, pheochromocytoma, primitive neuroectodermal tumor, proteostasis deficiencies, pulmonary hypertension, respiratory system disorder, sarcoidosis, skin disorder, skin vascular disease, sphingolipidosis, steroid inherited metabolic disorder, subvalvular aortic stenosis, telangiectasis, urticaria, vascular disorder, vascular hemostatic disease, vascular malformation, von Hippel-Lindau disease | Recruiting | Not stated | 2026-01-14 | NCT06573723 | |
| A Study of Gene Therapy for 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 disorder | Active, not recruiting | Phase 1 / Phase 2 | 2025-12-23 | NCT04783181 |