Abnormalities, Multiple
Abnormalities, Multiple
Explore linked clinical trials. Standard reference: MESH:M0000015394 results · Page 1 of 16
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Absorption, Distribution, Metabolism, and Excretion of 14C-VX-407 After a Single Oral Dose | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Urogenital Diseases, autosomal dominant polycystic kidney disease, cystic kidney disease, hereditary disease, kidney disorder, polycystic kidney disease, urinary system disorder | Not yet recruiting | Phase 1 | 2026-10-09 | NCT07868926 | |
| Clinical Genetics Branch Eligibility Screening Survey | Abnormalities, Multiple, Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Costello syndrome, Craniofacial Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Legius syndrome, Li-Fraumeni syndrome, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Thoracic Neoplasms, anemia, aplastic anemia, bone marrow disorder, cardiofaciocutaneous syndrome, chordoma, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, inherited aplastic anemia, lung neoplasm, melanocytic neoplasm, melanoma, metabolic disease, mixed neoplasm, musculoskeletal system disorder, neoplasm, neuroendocrine neoplasm, primitive neuroectodermal tumor, pulmonary blastoma, respiratory tract neoplasm, skin disorder, skin neoplasm, susceptibility to familial cutaneous melanoma | Not yet recruiting | Not stated | 2026-10-09 | NCT07005297 | |
| A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment | Abnormalities, 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, overnutrition | Active, not recruiting | Phase 1 / Phase 2 | 2026-10-09 | NCT06239116 | |
| Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition | Enrolling by invitation | Not stated | 2026-10-08 | NCT07450664 | |
| Pediatric Evaluation and Registry for Liver Cholestasis in Canada | Abnormalities, Multiple, Alagille syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, bile duct disorder, biliary tract disorder, cardiovascular disorder, cholestasis, congenital heart disease, hereditary disease, intrahepatic cholestasis, liver disorder, progressive familial intrahepatic cholestasis type 1 | Recruiting | Not stated | 2026-10-08 | NCT07411716 | |
| Long-Term SafEty and Clinical Outcomes of LivmArli in Patients in the United States (LEAP-US) | Abnormalities, Multiple, Alagille syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, bile duct disorder, biliary tract disorder, cardiovascular disorder, cholestasis, congenital heart disease, hereditary disease, intrahepatic cholestasis, liver disorder, progressive familial intrahepatic cholestasis type 1 | Recruiting | Not stated | 2026-10-08 | NCT06193928 | |
| Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome | Abnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorder | Not yet recruiting | Not applicable | 2026-10-07 | NCT07658053 | |
| Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043) | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, angiomatosis, cancer, cardiovascular disorder, hereditary disease, neoplasm, nervous system disorder, neurocutaneous syndrome, vascular disorder, von Hippel-Lindau disease | Recruiting | Phase 3 | 2026-10-06 | NCT07405164 | |
| ANCHOR Study: A Study to Assess the Safety and Efficacy of ABBV-CLS-628 in Adult Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Urogenital Diseases, autosomal dominant polycystic kidney disease, cystic kidney disease, hereditary disease, kidney disorder, polycystic kidney disease, urinary system disorder | Recruiting | Phase 2 | 2026-10-06 | NCT06902558 | |
| Impact of Bright Light Therapy on Prader-Willi Syndrome | Abnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disorders of Excessive Somnolence, Dyssomnias, Excessive Daytime Sleepiness, Hyperphagia, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, Signs and Symptoms, Digestive, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition, psychiatric disorder, sleep-wake disorder | Active, not recruiting | Not applicable | 2026-10-06 | NCT05939453 | |
| Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015) | Abnormalities, Multiple, Adenoma, Islet Cell, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, adenoma, angiomatosis, cardiovascular disorder, endocrine system disorder, epithelial neoplasm, hereditary disease, malignant endocrine neoplasm, neoplasm, nervous system disorder, neurocutaneous syndrome, neuroendocrine neoplasm, pancreas disorder, pancreatic neoplasm, pancreatic neuroendocrine tumor, paraganglioma, pheochromocytoma, pheochromocytoma-paraganglioma, primitive neuroectodermal tumor, vascular disorder, von Hippel-Lindau disease | Recruiting | Phase 2 | 2026-10-06 | NCT04924075 | |
| SENSE-Brain Health Pro for Older Adults With Sensory Loss | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, blindness (disorder), eye disorder, hearing disorder, hearing loss disorder, nervous system disorder, otorhinolaryngologic disease, vision disorder | Not yet recruiting | Not applicable | 2026-10-05 | NCT07856888 | |
| Escalating Doses of Memantine in Down Syndrome (MEDS-123) | Abnormalities, Multiple, Alzheimer disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, chromosomal disorder, cognitive disorder, dementia, hereditary disease, intellectual disability, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, psychiatric disorder, tauopathy | Not yet recruiting | Phase 1 | 2026-10-05 | NCT07531940 | |
| Acoustic Waveform Respiratory Evaluation | Abnormalities, Multiple, Chronic Disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Disease Attributes, Hypersensitivity, Immediate, Infant, Newborn, Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Respiratory Hypersensitivity, asthma, bronchial disorder, bronchiectasis, chronic obstructive pulmonary disease, cystic fibrosis, hereditary disease, immune system disorder, lung disorder, obstructive lung disease, otorhinolaryngologic disease, pancreas disorder, primary ciliary dyskinesia, respiratory system disorder | Recruiting | Not applicable | 2026-10-05 | NCT06512064 | |
| Utility of PCD Diagnostics to Improve Clinical Care | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, hereditary disease, otorhinolaryngologic disease, primary ciliary dyskinesia, respiratory system disorder | Recruiting | Not stated | 2026-10-05 | NCT05889013 | |
| Vascular Function in Adults With Down Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder | Recruiting | Not stated | 2026-10-02 | NCT07630207 | |
| Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome | Abnormalities, Multiple, Alagille syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, bile duct disorder, biliary tract disorder, cardiovascular disorder, cholestasis, congenital heart disease, hereditary disease, intrahepatic cholestasis, liver disorder | Active, not recruiting | Phase 3 | 2026-10-02 | NCT05035030 | |
| Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies | Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Costello syndrome, Craniofacial Abnormalities, Legius syndrome, Musculoskeletal Abnormalities, Noonan syndrome, RASopathy, Skin and Connective Tissue Diseases, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, cardiovascular disorder, congenital heart disease, connective tissue disorder, heart disorder, hereditary disease, musculoskeletal system disorder | Recruiting | Not stated | 2026-10-02 | NCT04888936 | |
| Natural History and Genetics of Food Allergy and Related Conditions | Abnormalities, Multiple, Aneurysm, Bone Diseases, Developmental, Camurati-Engelmann disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Digestive System Diseases, Eosinophilia, Hemic and Lymphatic Diseases, Hypersensitivity, Immediate, Loeys-Dietz syndrome, Musculoskeletal Abnormalities, Skin Diseases, Eczematous, Skin and Connective Tissue Diseases, aortic aneurysm, aortic disorder, atopic eczema, bone disorder, cardiovascular disorder, dermatitis, digestive system disorder, eosinophilic esophagitis, esophageal disorder, esophagitis, food allergy, gastroenteritis, hematologic disorder, hereditary disease, hereditary skin disorder, immune system disorder, leukocyte disorder, musculoskeletal system disorder, osteochondrodysplasia, skin disorder, vascular disorder | Recruiting | Not stated | 2026-10-02 | NCT02504853 | |
| National Eye Institute Biorepository for Retinal Diseases | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Complications, Embolism and Thrombosis, Venous Thrombosis, age-related macular degeneration, angiomatosis, cardiovascular disorder, diabetes mellitus, diabetic peripheral angiopathy, diabetic retinopathy, endocrine system disorder, eye disorder, hereditary disease, macular degeneration, nervous system disorder, neurocutaneous syndrome, retinal degeneration, retinal disorder, retinal vein occlusion, thrombotic disease, vascular disorder, von Hippel-Lindau disease | Recruiting | Not stated | 2026-10-02 | NCT01496625 | |
| Natural History of Bronchiectasis | Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, autoimmune disease, bronchial disorder, bronchiectasis, common variable immunodeficiency, cystic fibrosis, hereditary disease, immune system disorder, inborn error of immunity, lung disorder, otorhinolaryngologic disease, pancreas disorder, primary ciliary dyskinesia, respiratory system disorder | Recruiting | Not stated | 2026-10-02 | NCT00943514 | |
| A Study to Observe the Long-term Safety of Odevixibat in Patients With Alagille Syndrome (ALGS) Who Are Receiving Ongoing Treatment | Abnormalities, Multiple, Alagille syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, bile duct disorder, biliary tract disorder, cardiovascular disorder, cholestasis, congenital heart disease, hereditary disease, intrahepatic cholestasis, liver disorder | Recruiting | Not stated | 2026-10-01 | NCT07585097 | |
| A Study Observing the Long-term, Effectiveness and Safety of Odevixibat (Bylvay) in Patients With Alagille Syndrome (ALGS) Who Are Receiving Ongoing Treatment | Abnormalities, Multiple, Alagille syndrome, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, bile duct disorder, biliary tract disorder, cardiovascular disorder, cholestasis, congenital heart disease, hereditary disease, intrahepatic cholestasis, liver disorder | Recruiting | Not stated | 2026-10-01 | NCT06850038 | |
| Genetic Inclusion by Virtual Evaluation | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, neurodevelopmental disorder, psychiatric disorder | Recruiting | Not applicable | 2026-10-01 | NCT05318222 | |
| A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia | Abnormalities, Multiple, B-cell neoplasm, Burkitt lymphoma, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Virus Infections, Down syndrome, Epstein-Barr virus infection, Hemic and Lymphatic Diseases, Herpesviridae infectious disease, Infections, Neoplasms by Histologic Type, Neurobehavioral Manifestations, Neurologic Manifestations, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Virus Infections, chromosomal disorder, hematologic disorder, hereditary disease, immune system disorder, immunoproliferative disorder, intellectual disability, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoma, lymphoproliferative syndrome, neoplasm, nervous system disorder, viral infectious disease | Active, not recruiting | Phase 3 | 2026-10-01 | NCT03914625 |