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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Clinical Genetics Branch Eligibility Screening SurveyAbnormalities, 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 melanomaNot yet recruitingNot stated2026-10-09NCT07005297
Efficacy and Safety of Zelpultide Alfa in Preterm Neonates at High Risk of Developing Bronchopulmonary Dysplasia (BPD)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Infant, Premature, Diseases, Lung Injury, Ventilator-Induced Lung Injury, bronchopulmonary dysplasia, lung disorder, respiratory system disorderRecruitingPhase 2 / Phase 32026-10-09NCT06897839
A Study Evaluating the Long-term Safety and Efficacy of VX-121 Combination TherapyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderActive, not recruitingPhase 32026-10-09NCT05444257
Study to Evaluate Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) Long-term Safety and Efficacy in Subjects Without F508delCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderActive, not recruitingPhase 32026-10-09NCT05331183
Effect of Automated Oxygen Control on Early-childhood Lung MechanicsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases and Pregnancy Complications, Infant, Newborn, Diseases, Infant, Premature, Diseases, Obstetric Labor Complications, Obstetric Labor, Premature, Premature Birth, Respiration Disorders, Respiratory Distress Syndrome, Newborn, Urogenital Diseases, adult acute respiratory distress syndrome, lung disorder, newborn respiratory distress syndrome, pregnancy disorder, respiratory system disorderNot yet recruitingNot stated2026-10-08NCT07866820
Elevated Midline Positioning During Diaper Change in Preterm InfantsArrhythmias, Cardiac, Bradycardia, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases and Pregnancy Complications, Infant, Newborn, Diseases, Infant, Premature, Diseases, Neurologic Manifestations, Obstetric Labor Complications, Obstetric Labor, Premature, Pain, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Premature Birth, Signs and Symptoms, Urogenital Diseases, cardiovascular disorder, heart disorder, pregnancy disorderNot yet recruitingNot applicable2026-10-08NCT07865897
Recorded Parent/Caregiver Voice for Infants With Neonatal Opioid Withdrawal SyndromeChemically-Induced Disorders, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, neonatal abstinence syndrome, psychiatric disorder, substance-related disorderNot yet recruitingNot applicable2026-10-08NCT07864493
Bacteriophages for Adults With Cystic Fibrosis and Chronic Achromobacter Lung InfectionCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderRecruitingPhase 12026-10-08NCT07275905
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 DeficiencyBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, bone marrow disorder, hematologic disorderRecruitingPhase 12026-10-08NCT06090669
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation DisordersCongenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, common variable immunodeficiency, hereditary disease, immune system disorder, inborn error of immunity, metabolic disease, severe combined immunodeficiencyEnrolling by invitationNot stated2026-10-08NCT00895271
Cancer in Inherited Bone Marrow Failure SyndromesBone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, Shwachman-Diamond syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, exocrine pancreatic insufficiency, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, lipomatosis, metabolic disease, pancreas disorder, pure red-cell aplasia, skin disorderRecruitingNot stated2026-10-08NCT00027274
Role of Genetic Factors in the Development of Lung DiseaseCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Fibrosis, Hemic and Lymphatic Diseases, Hypersensitivity, Delayed, Hypersensitivity, Immediate, Infant, Newborn, Diseases, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Respiratory Hypersensitivity, Subcutaneous Emphysema, alpha 1-antitrypsin deficiency, asthma, bronchial disorder, central nervous system malformation, cerebral cortical dysplasia, cystic fibrosis, hamartoma, hereditary disease, hereditary neoplastic syndrome, immune system disorder, inherited neurodegenerative disorder, interstitial lung disease, liver disorder, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, obstructive lung disease, pancreas disorder, pulmonary emphysema, pulmonary fibrosis, pulmonary sarcoidosis, respiratory system disorder, sarcoidosis, tuberous sclerosisRecruitingNot stated2026-10-08NCT00001532
Health Outcomes of Parents With Cystic Fibrosis-Aim 2Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderRecruitingNot stated2026-10-07NCT06296394
Regional Phenotyping of CF and Non-CF BronchiectasisCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderRecruitingNot stated2026-10-07NCT04793867
Phase 2 Study to Assess the Safety and Efficacy of ANG003Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, exocrine pancreatic insufficiency, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderRecruitingPhase 22026-10-06NCT07450547
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Subcutaneous Emphysema, alpha 1-antitrypsin deficiency, hereditary disease, liver disorder, lung disorder, pulmonary emphysema, respiratory system disorderRecruitingPhase 12026-10-06NCT07431112
Pulmonary Hypertension and Oxygen Saturation Targeting in Preterm InfantsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Infant, Premature, Diseases, Lung Injury, Ventilator-Induced Lung Injury, bronchopulmonary dysplasia, cardiovascular disorder, hypertensive disorder, lung disorder, pulmonary hypertension, respiratory system disorder, vascular disorderRecruitingNot applicable2026-10-06NCT06373289
Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Primary Immunodeficiency Diseases, X-Linked Combined Immunodeficiency Diseases, X-linked disease, hereditary disease, immune system disorder, inborn error of immunity, severe combined immunodeficiencyRecruitingPhase 1 / Phase 22026-10-06NCT01306019
Chest Ultrasound Versus Chest X-ray in Neonatal Respiratory Distress SyndromeCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Infant, Premature, Diseases, Pulmonary Atelectasis, Respiration Disorders, Respiratory Distress Syndrome, Newborn, adult acute respiratory distress syndrome, lung disorder, newborn respiratory distress syndrome, respiratory system disorderNot yet recruitingNot stated2026-10-05NCT07857304
Acoustic Waveform Respiratory EvaluationAbnormalities, 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 disorderRecruitingNot applicable2026-10-05NCT06512064
Exercise in Child HealthCOVID-19, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Coronaviridae Infections, Digestive System Diseases, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Infections, Nidovirales infectious disease, Orthocoronavirinae infectious disease, RNA Virus Infections, anemia, cystic fibrosis, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, inherited hemoglobinopathy, lung disorder, pancreas disorder, pneumonia, respiratory system disorder, respiratory tract infectious disorder, sickle cell disease, viral infectious disease, viral pneumoniaRecruitingNot applicable2026-10-02NCT05359991
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
Natural History of BronchiectasisAbnormalities, 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 disorderRecruitingNot stated2026-10-02NCT00943514
Reproducibility of Continuous Glucose Monitoring (CGM) in the Assessment of Glucose Metabolism Disorders in Children With Cystic FibrosisCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, cystic fibrosis, glucose metabolism disease, hereditary disease, lung disorder, metabolic disease, pancreas disorder, respiratory system disorderNot yet recruitingNot applicable2026-10-01NCT07851831
A Study to Evaluate Safety and Explore Efficacy of New Lipase NHS7108 in Adult Participants With Exocrine Pancreatic Insufficiency.Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, exocrine pancreatic insufficiency, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderRecruitingPhase 22026-10-01NCT07559175