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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
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
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapycentral nervous system disorder, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, spinal cord disorder, spinal muscular atrophyRecruitingPhase 42026-10-02NCT05861986
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapycentral nervous system disorder, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, spinal cord disorder, spinal muscular atrophyRecruitingPhase 42026-09-10NCT05861999
X-linked Hypophosphatemia Disease Monitoring ProgramBone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypophosphatemia, Familial, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Rickets, X-Linked Hypophosphatemic, Urogenital Diseases, X-linked hypophosphatemic rickets, bone disorder, calcium metabolic disease, hereditary disease, hypophosphatemia, hypophosphatemic rickets, inborn errors of metabolism, inborn metal metabolism disorder, kidney disorder, metabolic disease, musculoskeletal system disorder, nutritional deficiency disease, nutritional disorder, phosphorus metabolism disease, renal tubular transport disease, rickets, urinary system disorder, vitamin D deficiency, vitamin deficiency disorderActive, not recruitingNot stated2026-08-28NCT03651505
Streamlined Treatment of Pulmonary Exacerbations in PediatricsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, cystic fibrosis, hereditary disease, lung disorder, pancreas disorder, respiratory system disorderRecruitingNot applicable2026-08-03NCT06654752
Nivolumab or Nivolumab and Azacitidine in Patients With Recurrent, Resectable OsteosarcomaNeoplasms by Histologic Type, Neoplasms, Bone Tissue, Neoplasms, Connective and Soft Tissue, connective tissue neoplasm, neoplasm, osteosarcoma, sarcomaActive, not recruitingPhase 12026-07-30NCT03628209
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With PhenylketonuriaBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuriaActive, not recruitingPhase 32026-07-21NCT05270837
Clinical and Basic Investigations Into Congenital Disorders of GlycosylationCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, congenital disorder of glycosylation, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, metabolic diseaseRecruitingNot stated2026-07-21NCT04199000
An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)Acid-Base Imbalance, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, MELAS syndrome, Mitochondrial encephalopathy, Nutritional and Metabolic Diseases, acidosis disorder, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, lactic acidosis, metabolic disease, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, vascular disorderActive, not recruitingPhase 22026-07-07NCT06961344
Cerliponase Alfa Observational Study in the USCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative diseaseActive, not recruitingNot stated2026-06-30NCT04476862
Ruxolitinib-Enhanced Haplo HCT for Children and Young Adults With Sickle Cell DiseaseCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, anemia, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, inherited hemoglobinopathy, sickle cell diseaseRecruitingPhase 1 / Phase 22026-06-04NCT07252050
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Programcarnitine-acylcarnitine translocase deficiency, mitochondrial trifunctional protein deficiency, very long chain acyl-CoA dehydrogenase deficiencyActive, not recruitingNot stated2026-06-03NCT04632953
Optune for Children With High-Grade Glioma or Ependymoma, and Optune With Radiation Therapy for Children With DIPGNeoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, brain disorder, brainstem cancer, central nervous system cancer, central nervous system disorder, diffuse intrinsic pontine glioma, ependymoma, epithelial neoplasm, glioma, malignant glioma, neoplasm, nervous system disorder, neuroepithelial neoplasm, primitive neuroectodermal tumorActive, not recruitingNot applicable2026-06-02NCT03033992
Evaluation of VX-121/Tezacaftor/Deutivacaftor in Cystic Fibrosis (CF) Participants 1 Through 11 Years of AgeCongenital, 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 32026-05-28NCT05422222
Gastroschisis Outcomes of Delivery (GOOD) StudyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hernia, Hernia, Abdominal, Musculoskeletal Abnormalities, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, gastroschisis, musculoskeletal system disorderRecruitingNot applicable2026-05-27NCT02774746
GLP-1 Agonist Therapy in Cystic Fibrosis-Related Glucose IntoleranceCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, cystic fibrosis, diabetes mellitus, endocrine system disorder, exocrine pancreatic insufficiency, glucose intolerance, glucose metabolism disease, hereditary disease, hyperglycemia, lung disorder, metabolic disease, pancreas disorder, respiratory system disorderRecruitingPhase 22026-05-18NCT04731272
Trial of Reducing Inpatient Antibiotic Durations in ChildrenFemale Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Infections, Male Urogenital Diseases, Urogenital Diseases, lung disorder, pneumonia, respiratory system disorder, respiratory tract infectious disorder, urinary system disorder, urinary tract infectionEnrolling by invitationPhase 42026-04-29NCT07322146
Study of Autologous Tumor-Infiltrating Lymphocytes in Pediatric, Adolescent, and Young Adult ParticipantsEwing sarcoma, Myosarcoma, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Bone Tissue, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Skin and Connective Tissue Diseases, connective tissue neoplasm, melanocytic neoplasm, melanoma, myomatous neoplasm, neoplasm, neuroendocrine neoplasm, osteosarcoma, primitive neuroectodermal tumor, rhabdomyosarcoma, sarcoma, skin disorder, skin neoplasmActive, not recruitingPhase 12026-04-06NCT06566092
Long-Term Outcomes After the Multisystem Inflammatory Syndrome in Childrenpediatric multisystem inflammatory disease, COVID-19 relatedActive, not recruitingNot stated2026-03-27NCT05287412
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)Abnormalities, Multiple, Acid-Base Imbalance, Barth syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cerebral Small Vessel Diseases, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deafness, Disease Attributes, Ear Diseases, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Kearns-Sayre syndrome, Leber hereditary optic neuropathy, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, MELAS syndrome, MERRF syndrome, NARP syndrome, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pyruvate Metabolism, Inborn Errors, Sensation Disorders, Signs and Symptoms, Visceral myopathy familial external ophthalmoplegia, X-linked disease, acidosis disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, congenital heart disease, cranial nerve neuropathy, diabetes mellitus, disease, endocrine system disorder, epilepsy, eye disorder, glucose metabolism disease, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary optic atrophy, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, lactic acidosis, maternally-inherited Leigh syndrome, metabolic disease, mitochondrial complex I deficiency, mitochondrial complex IV deficiency, nuclear-type, mitochondrial encephalomyopathy, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic atrophy, optic nerve disorder, otorhinolaryngologic disease, palsy, progressive external ophthalmoplegia, progressive myoclonus epilepsy, retinal degeneration, retinal disorder, retinitis pigmentosa, stroke disorder, syndromic disease, vascular disorderRecruitingNot stated2026-02-04NCT01694940
COMPASSION S3 Post-Approval StudyBites and Stings, Chemically-Induced Disorders, cardiovascular disorder, heart disorder, heart valve disorder, injury, poisoning, pulmonary valve insufficiencyActive, not recruitingNot stated2026-02-03NCT04860765
Comparison of Methods of Pulmonary Blood Flow Augmentation in Neonates: Shunt Versus Stent (The COMPASS Trial)Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, cardiovascular disorder, congenital heart disease, heart disorderActive, not recruitingNot applicable2026-01-07NCT05268094
Improving Outcomes Using Technology for Children Who Are DHHEar Diseases, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, hearing disorder, hearing loss disorder, nervous system disorder, otorhinolaryngologic diseaseActive, not recruitingNot applicable2025-12-23NCT02998164
Evolutionary Therapy for RhabdomyosarcomaMyosarcoma, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, myomatous neoplasm, neoplasm, rhabdomyosarcoma, sarcomaActive, not recruitingPhase 22025-11-26NCT04388839
A Study of Cabozantinib as a Maintenance Agent to Prevent Progression or Recurrence in High-Risk Pediatric Solid TumorsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Ewing sarcoma, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Myosarcoma, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Bone Tissue, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Neuroectodermal Tumors, Primitive, Neuroectodermal Tumors, Primitive, Peripheral, Urogenital Diseases, Urogenital Neoplasms, Wilms tumor, benign urinary system neoplasm, connective tissue neoplasm, epithelial neoplasm, hereditary disease, hereditary neoplastic syndrome, kidney cancer, kidney disorder, mixed neoplasm, myomatous neoplasm, neoplasm, neuroblastoma, neuroepithelial neoplasm, osteosarcoma, primitive neuroectodermal tumor, rhabdoid tumor, rhabdomyosarcoma, sarcoma, urinary system disorderRecruitingPhase 22025-08-12NCT05135975