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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
ASO Treatment for Syndromic CraniosynostosesApert syndrome, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Crouzon syndrome, Limb Deformities, Congenital, Muenke syndrome, Musculoskeletal Abnormalities, Pfeiffer syndrome, Saethre-Chotzen syndrome, bone disorder, craniosynostosis, dysostosis, musculoskeletal system disorder, syndactyly, synostosisRecruitingNot stated2026-09-08NCT07535372
A Study of Erdafitinib Intravesical Delivery System in Japanese Participants With Bladder CancerBone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Limb Deformities, Congenital, Male Urogenital Diseases, Musculoskeletal Abnormalities, Neoplasms by Site, Urogenital Diseases, Urogenital Neoplasms, benign urinary system neoplasm, bone disorder, craniosynostosis, dysostosis, musculoskeletal system disorder, neoplasm, syndactyly, synostosis, urinary bladder disorder, urinary bladder neoplasm, urinary system disorderActive, not recruitingPhase 12026-08-28NCT05567185
Safety and Anti-Tumor Activity of TYRA-200 in Advanced Cholangiocarcinoma With Activating FGFR2 Gene AlterationsBone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasm Metastasis, Neoplasms by Histologic Type, Neoplastic Processes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, adenocarcinoma, bone disorder, carcinoma, cholangiocarcinoma, craniosynostosis, dysostosis, epithelial neoplasm, intrahepatic cholangiocarcinoma, musculoskeletal system disorder, neoplasm, syndactyly, synostosisActive, not recruitingPhase 12026-08-05NCT06160752
Futibatinib (TAS-120) in Patients With Advanced Biliary Tract CancerBiliary Tract Neoplasms, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasms by Site, autosomal dominant Parkinson disease 4, biliary tract cancer, biliary tract disorder, bone disorder, craniosynostosis, dysostosis, musculoskeletal system disorder, neoplasm, syndactyly, synostosisRecruitingPhase 32026-07-17NCT07710885
A Phase 1b/2 Study of the Safety and Efficacy of the Monoclonal Antibody OM-RCA-01 in Patients With Metastatic Tumors Expressing Fibroblast Growth Factor Receptor 1Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Head and Neck Neoplasms, Limb Deformities, Congenital, Male Urogenital Diseases, Musculoskeletal Abnormalities, Neoplasm Metastasis, Neoplasms by Site, Neoplastic Processes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, benign urinary system neoplasm, bone disorder, breast disorder, breast neoplasm, craniosynostosis, dysostosis, kidney cancer, kidney disorder, lung disorder, lung neoplasm, male reproductive organ cancer, male reproductive system disorder, metastatic prostate carcinoma, musculoskeletal system disorder, neoplasm, prostate cancer, prostate disorder, respiratory system disorder, respiratory tract neoplasm, skin disorder, syndactyly, synostosis, urinary system disorderRecruitingPhase 1 / Phase 22026-01-21NCT07292168
Motiva Flora® Aesthetic Breast Recon® Clinical StudyBone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasms by Site, Poland syndrome, Skin and Connective Tissue Diseases, bone disorder, breast cancer, breast disorder, breast neoplasm, dysostosis, musculoskeletal system disorder, neoplasm, skin disorder, syndactyly, synostosisRecruitingNot applicable2025-11-26NCT06146231
NCCH2006/MK010 Trial (FORTUNE Trial)Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Limb Deformities, Congenital, Musculoskeletal Abnormalities, bone disorder, craniosynostosis, dysostosis, musculoskeletal system disorder, syndactyly, synostosisRecruitingPhase 22025-10-03NCT04962867
Early Genetic Identification of ObesityAbnormalities, Multiple, Bardet-Biedl syndrome, Body Weight, Bone Diseases, Developmental, Ciliopathies, Cognition Disorders, Cognitive Dysfunction, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hyperphagia, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Pediatric Obesity, Signs and Symptoms, Signs and Symptoms, Digestive, bone disorder, brain disorder, central nervous system disorder, cognitive disorder, dysostosis, eye disorder, hereditary disease, hypothalamic disorder, musculoskeletal system disorder, nervous system disorder, nutritional disorder, obesity disorder, obesity due to pro-opiomelanocortin deficiency, overnutrition, polydactyly, psychiatric disorder, retinal disorder, retinitis pigmentosa, syndactyly, synostosisActive, not recruitingNot stated2025-09-29NCT06239064
Driving Pressure-guided Tidal Volume Ventilation in the Acute Respiratory Distress SyndromeBone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Limb Deformities, Congenital, Lung Injury, Musculoskeletal Abnormalities, Respiration Disorders, Ventilator-Induced Lung Injury, adult acute respiratory distress syndrome, bone disorder, craniosynostosis, dysostosis, lung disorder, musculoskeletal system disorder, respiratory system disorder, syndactyly, synostosisNot yet recruitingNot applicable2024-03-26NCT06322758
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