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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Absorption, Distribution, Metabolism, and Excretion of 14C-VX-407 After a Single Oral DoseAbnormalities, 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 disorderNot yet recruitingPhase 12026-10-09NCT07868926
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 diseaseRecruitingPhase 32026-10-06NCT07405164
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 disorderRecruitingPhase 22026-10-06NCT06902558
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 diseaseRecruitingPhase 22026-10-06NCT04924075
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
Utility of PCD Diagnostics to Improve Clinical CareAbnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, hereditary disease, otorhinolaryngologic disease, primary ciliary dyskinesia, respiratory system disorderRecruitingNot stated2026-10-05NCT05889013
National Eye Institute Biorepository for Retinal DiseasesAbnormalities, 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 diseaseRecruitingNot stated2026-10-02NCT01496625
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
Effects of VX-407 on the Pharmacokinetics of Combined Oral ContraceptivesAbnormalities, 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 disorderRecruitingPhase 12026-09-30NCT07792408
Bempedoic Acid Therapy for Polycystic Kidney DiseaseAbnormalities, 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 disorderRecruitingPhase 22026-09-29NCT07282821
ADPKD Patient RegistryAbnormalities, 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, cystic kidney disease, hereditary disease, kidney disorder, polycystic kidney disease, urinary system disorderRecruitingNot stated2026-09-22NCT04039061
Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW)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 disorderActive, not recruitingPhase 22026-09-21NCT07161037
Safety, Tolerability and Pharmacokinetics of AZD1613 in Adults With Autosomal Dominant Polycystic Kidney DiseaseAbnormalities, 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 disorderRecruitingPhase 12026-09-11NCT07228364
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney DiseaseAbnormalities, 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 disorderActive, not recruitingNot stated2026-09-09NCT06747572
Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseAbnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, Neoplasms by Histologic Type, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, angiomatosis, capillary hemangioma, cardiovascular disorder, hemangioblastoma, hemangioma, hereditary disease, neoplasm, nervous system disorder, neurocutaneous syndrome, vascular cancer, vascular disorder, von Hippel-Lindau diseaseActive, not recruitingNot stated2026-08-31NCT00005902
A Phase 1 Study of Single and Multiple Ascending Doses of GV-100Abnormalities, 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 disorderRecruitingPhase 12026-08-26NCT07788014
HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of LifeAbnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Pathological Conditions, Signs and Symptoms, Polyuria, Signs and Symptoms, Urination Disorders, Urogenital Diseases, Urological Manifestations, autosomal dominant polycystic kidney disease, cystic kidney disease, hereditary disease, kidney disorder, polycystic kidney disease, urinary system disorderRecruitingPhase 32026-08-25NCT05373264
Managing Depressive Symptoms in ADPKDAbnormalities, 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 disorderRecruitingNot applicable2026-08-07NCT07745920
A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)Abnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Polycystic Kidney, Autosomal Recessive, Urogenital Diseases, cystic kidney disease, hereditary disease, kidney disorder, oligohydramnios, polycystic kidney disease, pregnancy disorder, urinary system disorderRecruitingPhase 32026-08-07NCT04782258
Comparison of Individuals With Primary Ciliary Dyskinesia and Healthy ControlsAbnormalities, Multiple, Atrophy, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurologic Manifestations, Neuromuscular Manifestations, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Sarcopenia, Signs and Symptoms, hereditary disease, muscular atrophy, nervous system disorder, otorhinolaryngologic disease, primary ciliary dyskinesia, respiratory system disorderNot yet recruitingNot stated2026-07-31NCT07740551
Malnutrition and Sarcopenia Among Primary Ciliary DyskinesiaAbnormalities, Multiple, Atrophy, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurologic Manifestations, Neuromuscular Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Sarcopenia, Signs and Symptoms, hereditary disease, muscular atrophy, nervous system disorder, nutritional deficiency disease, nutritional disorder, otorhinolaryngologic disease, primary ciliary dyskinesia, respiratory system disorderNot yet recruitingNot stated2026-07-31NCT07740538
A Study to Evaluate the Safety, Tolerability, and Effects on Blood and Urine Markers of Single Ascending Dose of GSK4771261 in Healthy Participants and Participants With Autosomal Dominant Polycystic Kidney DiseaseAbnormalities, 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 disorderActive, not recruitingPhase 12026-07-30NCT06734234
STOP-PKD: SGLT2-inhibition to Improve Prognosis in Polycystic Kidney DiseaseAbnormalities, 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 disorderRecruitingPhase 32026-07-28NCT07280585
Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003Abnormalities, 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 disorderRecruitingPhase 12026-07-27NCT06714006
Use of Tracking Devices to Locate Abnormalities During Invasive ProceduresAbnormalities, Multiple, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Genital Diseases, Male Urogenital Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Urogenital Diseases, Urogenital Neoplasms, adenocarcinoma, angiomatosis, benign urinary system neoplasm, carcinoma, cardiovascular disorder, epithelial neoplasm, hereditary disease, kidney cancer, kidney disorder, male reproductive organ cancer, male reproductive system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, prostate cancer, prostate disorder, renal cell carcinoma, urinary system disorder, vascular disorder, von Hippel-Lindau diseaseEnrolling by invitationNot applicable2026-07-24NCT00102544