Not applicableLooking for participantsNCT03305835What this trial is testingMonogenic Kidney Stone - Genetic TestingWho this might be right forRare Kidney Stone Diseases Mayo Clinic 6,000
Not applicableUnknownNCT03622892What this trial is testingNon-invasive Prenatal Diagnosis of Monogenic Disorders by Linked-reads TechnologyWho this might be right forCystic Fibrosis University Hospital, Brest 75
Post-approval studies (Phase 4)Looking for participantsNCT06499948What this trial is testingAlbuminuria Lowering Effect of Dapagliflozin, Spironolactone and Their Combination in Adult Patients with Alport Syndrome (COMBINE-ALPORT)Who this might be right forAlport SyndromeThin Basement Membrane DiseaseAlport Nephropathy Stefan Lujinschi 34
Not applicableLooking for participantsNCT03988764What this trial is testingMonogenic Diabetes Misdiagnosed as Type 1Who this might be right forDiabetes Mellitus, Type 1Monogenic DiabetesNeonatal Diabetes+4 more McGill University Health Centre/Research Institute of the McGill University Health Centre 5,000
Not applicableUnknownNCT05793424What this trial is testingEstablishment of a CSF Bank for the Development of Biomarkers of Smooth Muscle Cell (SMC) Damage in Monogenic Cerebral Small Vessel DiseaseWho this might be right forCerebral Small Vessel DiseasesCADASIL (Diagnosis) Assistance Publique - Hôpitaux de Paris 90
Testing effectiveness (Phase 2)UnknownNCT04940572What this trial is testingEfficacy Study of Daily Administration of VPA in Patients Affected by Wolfram SyndromeWho this might be right forWolfram Syndrome Centre d'Etude des Cellules Souches 23
Not applicableLooking for participantsNCT06478121What this trial is testingUnderstanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)Who this might be right forDiabetes MellitusMonogenic DiabetesHyperinsulinism University of Exeter 50
Not applicableUnknownNCT05713721What this trial is testingSensorimotor Integration in Monogenic Parkinson-dystonia SyndromesWho this might be right forParkinsonDystoniaDYT3+3 more University Hospital Schleswig-Holstein 120
Not applicableEnded earlyNCT01782027What this trial is testingMendelian Reverse Cholesterol Transport StudyWho this might be right forCholesterol, HDLLipid Metabolism, Inborn ErrorsTangier Disease+2 more University of Pennsylvania 17
Not applicableLooking for participantsNCT06746610What this trial is testingScreening and Molecular Diagnosis-based Individualized Precision Management of Monogenic DiabetesWho this might be right forMonogenic Diabetes Tianjin Medical University General Hospital 2,000
Not applicableUnknownNCT01481623What this trial is testingIdentification and Characterization of Monogenic DiabetesWho this might be right forDiabetes Assistance Publique - Hôpitaux de Paris 1,000
Not applicableLooking for participantsNCT05518617What this trial is testingMolecular and Functional Imaging in Monogenic PD.Who this might be right forParkinson DiseaseNervous System DisorderNeurodegenerative Diseases+2 more University of Exeter 45
Not applicableStudy completedNCT01238380What this trial is testingUsing Pharmacogenetics to Improve Treatment in Early-onset DiabetesWho this might be right forDiabetes University of Exeter 1,916
Not applicableNot Yet RecruitingNCT05858606What this trial is testingMultidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature PatientsWho this might be right forIdiopathic Short Stature University Hospital, Montpellier 200
Not applicableStudy completedNCT01085227What this trial is testingClinical, Molecular and by Neuroimaging of LRRK2 MutationsWho this might be right forParkinson's Disease Institut National de la Santé Et de la Recherche Médicale, France 50
Testing effectiveness (Phase 2)Active Not RecruitingNCT04641442What this trial is testingStudy to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 MutationsWho this might be right forNLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations Novartis Pharmaceuticals 17
Not applicableUnknownNCT04049149What this trial is testingPrecision Medicine in Chinese Patients With Young Onset DiabetesWho this might be right forType 2 Diabetes Chinese University of Hong Kong 884
Testing effectiveness (Phase 2)Not Yet RecruitingNCT06976658What this trial is testingGlucokinase Activator in Monogenic DiabetesWho this might be right forDiabetes MellitusMonogenic Diabetes Chinese University of Hong Kong 44
Not applicableLooking for participantsNCT06808880What this trial is testingEXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)Who this might be right forSingle Gene NIPT Natera, Inc. 4,000
Large-scale testing (Phase 3)Not Yet RecruitingNCT07220772What this trial is testingA Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and AdultsWho this might be right forMonogenic Obesity Regeneron Pharmaceuticals 4