| Recruiting | Using a Speech-Generating Device to Support Communication in Childhood Dementia NCT07039084 | Murdoch Childrens Research Institute | N/A |
| Recruiting | Natural History of Type 1 Interferonopathies: Insights From a European Cohort NCT07040774 | Imagine Institute | — |
| Active Not Recruiting | An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment NCT07222371 | University of California, San Diego | Phase 1 / Phase 2 |
| Not Yet Recruiting | Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid S NCT07119606 | Assistance Publique - Hôpitaux de Paris | N/A |
| Not Yet Recruiting | Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whol NCT07106853 | Women's Hospital School Of Medicine Zhejiang University | — |
| Not Yet Recruiting | Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF NCT06981520 | Hitit University | — |
| Active Not Recruiting | Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease NCT06744543 | Vanderbilt University Medical Center | N/A |
| Recruiting | Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases NCT06435468 | Hospices Civils de Lyon | N/A |
| Recruiting | N-Care Project: Enhancing Asian-Pacific Collaboration NCT06821386 | National Taiwan University Hospital | — |
| Recruiting | Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk NCT07365254 | Women's Hospital School Of Medicine Zhejiang University | — |
| Recruiting | Large Language Models To Improve the Quality of Care of Cardiology Patients NCT06935253 | Stanford University | N/A |
| Recruiting | Pediatric Neurogenetic Diagnosis Support Platform NCT06725901 | Universidad Nacional Andres Bello | N/A |
| Recruiting | Genomic Profiling of Genetic and Rare Diseases NCT06926127 | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | N/A |
| Recruiting | Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing NCT06023472 | Professor Ernest Hung-Yu Ng | N/A |
| Enrolling By Invitation | Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy NCT06369974 | Massachusetts General Hospital | Phase 1 / Phase 2 |
| Recruiting | Prospective Cohort Study of Neurogenetic Diseases NCT06048523 | University Hospital, Bordeaux | N/A |
| Recruiting | The Natural History of Mitochondrial Diseases NCT06504433 | Neuroscience Research Australia | — |
| Recruiting | Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia NCT06490627 | National Institute of Blood and Marrow Transplant (NIBMT), Pakistan | Phase 2 |
| Recruiting | A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gen NCT06237790 | Eye & ENT Hospital of Fudan University | — |
| Recruiting | An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing NCT06306521 | Rady Pediatric Genomics & Systems Medicine Institute | N/A |
| Active Not Recruiting | Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A NCT06314490 | University of California, San Diego | Phase 1 / Phase 2 |
| Not Yet Recruiting | Rehabilitation Program on Genetic and Degenerative Ataxia NCT06089863 | Hospices Civils de Lyon | N/A |
| Recruiting | Association Between Genetic Polymorphisms and Type 2 Asthma in Children NCT06840717 | Guangzhou Institute of Respiratory Disease | — |
| Completed | Fluoxetine in KCNC1-related Disorder NCT06341127 | Holland Bloorview Kids Rehabilitation Hospital | N/A |
| Recruiting | Newborn Genomics Programme NCT06081075 | Liggins Institute | — |
| Unknown | Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies NCT06284291 | Meyer Children's Hospital IRCCS | N/A |
| Enrolling By Invitation | Penn Medicine Biobank Return of Results Program NCT06089954 | Abramson Cancer Center at Penn Medicine | N/A |
| Recruiting | Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of th NCT05898009 | Centre Hospitalier Universitaire de la Réunion | N/A |
| Recruiting | STXBP1 and SYNGAP1 Related Disorders Natural History Study NCT06555965 | Children's Hospital of Philadelphia | — |
| Recruiting | Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes NCT06775561 | IRCCS Azienda Ospedaliero-Universitaria di Bologna | — |
| Recruiting | Natural History Study of Patients with HPDL Mutations NCT05848271 | University of California, San Diego | — |
| Active Not Recruiting | Overcoming Barriers to Accessing Genetic Medicine NCT05064241 | Boston Children's Hospital | N/A |
| Completed | Newborn Genomic Sequencing Pilot Study NCT06276348 | Rady Pediatric Genomics & Systems Medicine Institute | N/A |
| Recruiting | Investigating Hereditary Risk In Thoracic Cancers (INHERIT) NCT05587439 | Dana-Farber Cancer Institute | — |
| Completed | Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles NCT05643274 | Nantes University Hospital | — |
| Recruiting | Technological Development and Clinical Parallel Testing of PGT-G NCT05609708 | Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University | — |
| Completed | Modified Delphi for Genomic Bereavement Care NCT05655741 | The Leeds Teaching Hospitals NHS Trust | — |
| Recruiting | Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN NCT05499091 | University Hospital, Angers | N/A |
| Recruiting | Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syn NCT05528744 | Boston Children's Hospital | — |
| Recruiting | Rett Syndrome Registry NCT05432349 | International Rett Syndrome Foundation | — |
| Recruiting | Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders NCT05386134 | The Hospital for Sick Children | — |
| Recruiting | Molecular Diagnosis of Systemic Autoinflammatory Diseases NCT05364294 | Institut National de la Santé Et de la Recherche Médicale, France | — |
| Active Not Recruiting | Grand Valley State University (GVSU) Skills on Wheels NCT05339932 | Grand Valley State University | N/A |
| Active Not Recruiting | Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease NCT05297812 | Columbia University | — |
| Completed | A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CF NCT05251467 | Nottingham University Hospitals NHS Trust | — |
| Active Not Recruiting | The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment NCT05277116 | Vanderbilt University Medical Center | N/A |
| Active Not Recruiting | Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH) NCT05238519 | Essentia Health | Phase 3 |
| Unknown | Fetal Cell Analysis From Maternal Blood NCT05671744 | Menarini Biomarkers Singapore | N/A |
| Active Not Recruiting | Pediatric Powered Wheelchair Standing Devices: An Exploratory Study NCT05117827 | Grand Valley State University | N/A |
| Active Not Recruiting | iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders NCT05049967 | Illumina, Inc. | — |
| Completed | Educational Video for Genetic Testing NCT05472714 | Children's Hospital of Philadelphia | N/A |
| Recruiting | UW Undiagnosed Genetic Diseases Program NCT04586075 | University of Wisconsin, Madison | — |
| Recruiting | Genetic Study of Obstructive Azoospermia NCT05631509 | Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University | — |
| Recruiting | The Prospective Observational COMPRAYA Cohort Study NCT04682470 | The Netherlands Cancer Institute | — |
| Completed | Genetic Etiology in Patients With Cerebral Palsy NCT05123768 | University Medical Centre Ljubljana | — |
| Unknown | Metabolic FingerPrinting NCT05305729 | Arcensus GmbH | — |
| Unknown | CGH-array in Prenatal Diagnosis of Isolated Severe and Early Intra-uterine Growth Restriction NCT04729361 | Central Hospital, Nancy, France | — |
| Completed | Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease NCT04584528 | Duke University | N/A |
| Completed | Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) NCT04556487 | Hacettepe University | — |
| Completed | Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T) NCT04556500 | Hacettepe University | — |
| Completed | Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Periph NCT04285814 | Columbia University | — |
| Recruiting | Genetic Disorders of Obesity Program Database NCT05747976 | Baylor College of Medicine | — |
| Completed | Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics NCT04420858 | Women and Infants Hospital of Rhode Island | N/A |
| Enrolling By Invitation | Genome Sequencing in the Intensive Care Unit Population NCT04848090 | Jerry Vockley, MD, PhD | N/A |
| Recruiting | Follow-up With Preimplantation Genetic Testing Patients NCT04477863 | Genomic Prediction Inc. | — |
| Unknown | The Epidemiology of Parkinson's Disease in Croatia and the Influence of Genetic Factors and Microbiota on the NCT05008094 | Clinical Hospital Center Rijeka | — |
| Unknown | The Use of Digital Genetic Assistant (DGA) for Expanded Carrier Screening NCT04014114 | Igentify Ltd | — |
| Completed | Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders NCT04399694 | Duke University | — |
| Unknown | Digital Genetic Assistant (DGA) for Expanded Carrier Screening NCT04248504 | Igentify Ltd | — |
| Enrolling By Invitation | Structural Chromosome Rearrangements and Brain Disorders NCT06072079 | Karolinska Institutet | — |
| Enrolling By Invitation | Sanger Human Cell Atlasing Project NCT06497673 | The Wellcome Sanger Institute | — |
| Unknown | Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TI NCT03998540 | University Hospital, Montpellier | — |
| Unknown | Implementation of Molecular Diagnostic Pathways NCT03084224 | Neuromed IRCCS | — |
| Completed | A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluri NCT03847909 | Novo Nordisk A/S | Phase 2 |
| Completed | Young Pectus Excavatum Patients and Genetic Defects NCT05443113 | Erasmus Medical Center | — |
| Recruiting | Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorder NCT03967743 | Boston Children's Hospital | — |
| Terminated | A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis NCT04069260 | Eloxx Pharmaceuticals, Inc. | Phase 2 |
| Active Not Recruiting | Long Term Extension Study in Patients With Primary Hyperoxaluria NCT04042402 | Dicerna Pharmaceuticals, Inc., a Novo Nordisk company | Phase 3 |
| Unknown | Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study NCT03918707 | University of Illinois College of Medicine at Peoria | — |
| Unknown | Noninvasive Electrocardiographic Imaging for Individuals at Risk for Apparently Idiopathic Ventricular Fibrill NCT03963271 | Maastricht University Medical Center | — |
| Unknown | A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aort NCT03861741 | University of Leicester | N/A |
| Completed | Reinterpretation of CNV With Unknown Significance: a 5-year Retrospective Analysis NCT04575350 | Central Hospital, Nancy, France | — |
| Not Yet Recruiting | Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells NCT03612310 | Kevin Bruce | — |
| Completed | Implementing Digital Health in a Learning Health System NCT03713333 | Scripps Health | N/A |
| Completed | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 NCT03548779 | University of North Carolina, Chapel Hill | N/A |
| Completed | Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy NCT03043209 | The Cleveland Clinic | — |
| Unknown | Drug-induced Repolarization ECG Changes NCT03642405 | Copenhagen University Hospital at Herlev | — |
| Recruiting | Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria NCT03301038 | Children's Hospital of Philadelphia | Phase 2 |
| Recruiting | Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation NCT03624374 | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. | — |
| Recruiting | Diagnostic Odyssey: Whole Genome Sequencing (WGS) NCT03458962 | Nicklaus Children's Hospital f/k/a Miami Children's Hospital | — |
| Completed | Ensuring Patients' Informed Access to Noninvasive Prenatal Testing NCT03420274 | The Cleveland Clinic | N/A |
| Completed | Genetic Screening and Assisted Oocyte Activation in Couples with Diminished/aberrant Embryonic Development. NCT03354013 | University Hospital, Ghent | N/A |
| Completed | The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care NCT03380819 | VA Boston Healthcare System | N/A |
| Recruiting | Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart NCT06898307 | University Hospital of Ferrara | — |
| Completed | Phase 1 Study of ELX-02 in Healthy Adult Subjects NCT03309605 | Eloxx Pharmaceuticals, Inc. | Phase 1 |
| Completed | Phase 1 Study of ELX-02 in Healthy Adults NCT03292302 | Eloxx Pharmaceuticals, Inc. | Phase 1 |
| Withdrawn | Virtual Visits for Results Disclosure NCT03658382 | Brigham and Women's Hospital | N/A |
| Completed | Central and Peripheral Nervous System Changes as Markers of Disease Progression in Multiple Sclerosis NCT03401307 | University of Southern Denmark | — |
| Unknown | Cohort Description of Younger With AV-block NCT03024047 | University of Aarhus | — |
| Completed | Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience NCT05936749 | Istituto Clinico Humanitas | — |
| Recruiting | Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units NCT02551081 | Children's Hospital of Fudan University | — |
| Recruiting | Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Net NCT02450851 | National Human Genome Research Institute (NHGRI) | — |
| Recruiting | CUHK Stroke Biobank NCT03291392 | Chinese University of Hong Kong | — |
| Completed | Genomic Sequencing in Acutely Ill Neonates NCT02225522 | Children's Mercy Hospital Kansas City | N/A |
| Recruiting | Biobank Clinical Genetics Maastricht (KG01) NCT02266615 | Maastricht University Medical Center | — |
| Completed | Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS NCT02156102 | National Human Genome Research Institute (NHGRI) | — |
| Completed | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment NCT01793090 | Bambino Gesù Hospital and Research Institute | Phase 2 |
| Terminated | The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystr NCT01386515 | National Human Genome Research Institute (NHGRI) | — |
| Unknown | Saffron Supplementation in Stargardt's Disease NCT01278277 | Catholic University of the Sacred Heart | Phase 1 / Phase 2 |
| Completed | Personalized Genomic Research NCT01294345 | National Human Genome Research Institute (NHGRI) | — |
| Unknown | Genetic and Phenotypic Characteristics of Mitral Valve Prolapse NCT03884426 | Nantes University Hospital | — |
| Completed | Genetic Studies in the Amish and Mennonites NCT00359580 | National Human Genome Research Institute (NHGRI) | — |
| Terminated | New York Blood Center National Cord Blood Program NCT00212407 | New York Blood Center | EARLY_Phase 1 |