Genetic Diseases, Inborn: all 422 studies

Page 3 of 5. Open to participants first (147), then studies with results posted, then the rest; newest registration first within each.

• Awareness of Families With Down Syndrome Children About the Role of Physical Therapy in EgyptCompletedNCT06993324
• Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMFCompletedNCT06981520
• Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic DiseaseActive, not recruitingNCT06744543Not applicable
• A Study to Evaluate Impact of Efanesoctocog Alfa on Long-term Joint Health in Participants With Hemophilia A in TaiwanActive, not recruitingNCT06684314
• GC-PRO InterventionCompletedNCT06671704Not applicable
• Interventional Study of Vosoritide for the Treatment of Children With HypochondroplasiaActive, not recruitingNCT06455059Phase 3
• Fluoxetine in KCNC1-related DisorderCompletedNCT06341127Not applicable
• Natural History Study in Patients With PDE6A-, PDE6B- and RHO-linked Retinitis PigmentosaActive, not recruitingNCT06323772
• Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2AActive, not recruitingNCT06314490Phase 1/2
• Newborn Genomic Sequencing Pilot StudyCompletedNCT06276348Not applicable
• Decoding Developmental Disorders in HumamsCompletedNCT06260319
• An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC DeficiencyActive, not recruitingNCT06255782Phase 3
• Characterization and Recognition of Genetic Diseases by PhotographyCompletedNCT06225141
• Phase 3 Study for Efficacy and Safety Outcomes Data in Japanese Patients With Severe Hemophilia AActive, not recruitingNCT06224907Phase 3
• Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1CompletedNCT06204809Phase 1
• A Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1)Active, not recruitingNCT06185764Phase 1/2
• A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With AchondroplasiaCompletedNCT06164951Phase 3
• Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE StudyActive, not recruitingNCT06162585
• Evaluation of Cascade Screening for Elevated Lipoprotein(a)Active, not recruitingNCT06157983
• A Safety, Efficacy, and Pharmacokinetic (PK) Study of HBI-002, an Oral Carbon Monoxide (CO) Therapeutic, in Subjects With Sickle Cell Disease (SCD)CompletedNCT06144749Phase 2
• Study of an Early Parenting Intervention for Children With Genetic Abnormalities and Mental Health ProblemsCompletedNCT06125093Not applicable
• Penn Medicine Biobank Return of Results ProgramActive, not recruitingNCT06089954Not applicable
• A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)CompletedNCT06064656
• Investigation of the Genetic Diseases in Infants With Unknown Cause of DeathActive, not recruitingNCT06060249
• Pre-implantation Genetic Testing for Monogenic Disease: Single Center ExperienceCompletedNCT05936749
• A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett SyndromeActive, not recruitingNCT05898620Phase 3
• Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2CompletedNCT05898009Not applicable
• Artificial Intelligence Patient App for RDEB SCCsActive, not recruitingNCT05843994
• Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTActive, not recruitingNCT05739643Phase 1/2
• Promoting Stress Management and Resilience Among Individuals With Von Hippel- Lindau DiseaseActive, not recruitingNCT05737602Not applicable
• Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy VolunteersCompletedNCT05730842Phase 1
• Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer PredispositionCompletedNCT05721326Not applicable
• Fetal Cell Analysis From Maternal BloodStatus unknownNCT05671744Not applicable
• Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi SyndromeCompletedNCT05657860Phase 4
• Modified Delphi for Genomic Bereavement CareCompletedNCT05655741
• Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental TroublesCompletedNCT05643274
• A Study to Evaluate AB-1001 Striatal Administration in Adults With Early Manifest Huntington's DiseaseActive, not recruitingNCT05541627Phase 1/2
• Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) PatientsCompletedNCT05479981Phase 2
• Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with EpilepsyWithdrawnNCT05462054
• Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus SamplingCompletedNCT05453474Not applicable
• Young Pectus Excavatum Patients and Genetic DefectsCompletedNCT05443113
• Efficacy of Virtual Reality on Balance in Children With Ataxic Cerebral Palsy Randomized Controlled TrailCompletedNCT05411328Not applicable
• SEQUence of Endocrine Therapy in Advanced Luminal Breast Cancer (SEQUEL-Breast)Active, not recruitingNCT05392608Phase 2
• Family Health Histories: Creating a Culturally Tailored Tool to Reduce Health Disparities in the Black CommunityActive, not recruitingNCT05358964Not applicable
• Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)Active, not recruitingNCT05356195Phase 3
• Grand Valley State University (GVSU) Skills on WheelsActive, not recruitingNCT05339932Not applicable
• Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of DiseaseActive, not recruitingNCT05297812
• Evaluating Prenatal Exome Sequencing StudyCompletedNCT05290701
• The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk AssessmentActive, not recruitingNCT05277116Not applicable
• A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CFCompletedNCT05251467
• Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)CompletedNCT05238519Phase 3
• Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic OutcomesCompletedNCT05232630Phase 4
• Investigation and Diagnosis of the Chromosome Variation in Donated/abandoned BlastocystCompletedNCT05216068Not applicable
• DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry StudyActive, not recruitingNCT05212428Not applicable
• A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type IIActive, not recruitingNCT05208281Phase 2/3
• VIGOR: Virtual Genome Center for Infant HealthActive, not recruitingNCT05205356
• Prospective Phenotyping for Genetic Subtypes of Early-onset Atrial FibrillationCompletedNCT05190679
• Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy InfantsActive, not recruitingNCT05161169Not applicable
• A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular DystrophyActive, not recruitingNCT05126758Phase 3
• Genetic Etiology in Patients With Cerebral PalsyCompletedNCT05123768
• Pediatric Powered Wheelchair Standing Devices: An Exploratory StudyActive, not recruitingNCT05117827Not applicable
• GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)CompletedNCT05109793
• A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)Active, not recruitingNCT05095727Phase 1/2
• Screening Study to Identify Patients With Complement Factor I DeficienciesTerminatedNCT05072912
• Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short StatureStatus unknownNCT05070234
• Overcoming Barriers to Accessing Genetic MedicineActive, not recruitingNCT05064241Not applicable
• COVID-19 Antibody Responses In Cystic Fibrosis: CAR-CFCompletedNCT05054582
• iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset DisordersActive, not recruitingNCT05049967
• The Epidemiology of Parkinson's Disease in Croatia and the Influence of Genetic Factors and Microbiota on the Progression and Treatment Outcomes of the Disease (GiOPARK)Status unknownNCT05008094
• A Study of Etavopivat in Patients With Thalassemia or Sickle Cell DiseaseCompletedNCT04987489Phase 2
• Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]CompletedNCT04945772Phase 2
• A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic AcidemiaTerminatedNCT04899310Phase 1/2
• Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)CompletedNCT04874909Not applicable
• Evaluation of Association Between Testosterone Levels, Dementia, and Adverse Mental Health OutcomesActive, not recruitingNCT04743466
• CGH-array in Prenatal Diagnosis of Isolated Severe and Early Intra-uterine Growth RestrictionStatus unknownNCT04729361
• Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior InhibitorsCompletedNCT04684940Phase 1/2
• A Study of Etavopivat in Adults and Adolescents With Sickle Cell Disease (HIBISCUS)Active, not recruitingNCT04624659Phase 3
• Natural History Study of SLC25A46 Mutation-related MitochondriopathyCompletedNCT04594590
• Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell DiseaseCompletedNCT04584528Not applicable
• Natural History Study of FDXR Mutation-related MitochondriopathyCompletedNCT04580979
• Reinterpretation of CNV With Unknown Significance: a 5-year Retrospective AnalysisCompletedNCT04575350
• Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)CompletedNCT04556500
• Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)CompletedNCT04556487
• Biomarker for Friedreich's Ataxia (BioFridA)Status unknownNCT04548921
• BSEP Function Rescue During Childhood Inhereditary Cholestatic DiseasesWithdrawnNCT04531878Phase 2/3
• Inherited Risk Evaluation Tool (InheRET): Identifying Patients at Increased Risk for Hereditary DiseaseStatus unknownNCT04510896Not applicable
• Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene TherapyActive, not recruitingNCT04437771
• Assessment Psychological Distress for Cancer Heredity TestStatus unknownNCT04428710
• Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal GeneticsCompletedNCT04420858Not applicable
• Realization of Sequencing of All Known Human Genes in Case of Detection of Cerebral, Renal or Ophthalmological Fetal Malformations During Pregnancy in Order to Make an Etiological Diagnosis and to Precise the Fetal PrognosisStatus unknownNCT04406480Not applicable
• Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic DisordersCompletedNCT04399694
• Effects of Sitagliptin in Individuals With Genetically Decreased DPP4Active, not recruitingNCT04323189Phase 4
• Prevalence of Carriers of Genetic Diseases in the Mexican Jewish CommunityCompletedNCT04307719
• Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells from Maternal Peripheral BloodCompletedNCT04285814
• Study of Infigratinib in Children With AchondroplasiaCompletedNCT04265651Phase 2
• Digital Genetic Assistant (DGA) for Expanded Carrier ScreeningStatus unknownNCT04248504
• Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic PowerStatus unknownNCT04152876
• A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO GeneActive, not recruitingNCT04123626Phase 1/2
• A Phase 2 Study of ELX-02 in Patients With Nephropathic CystinosisTerminatedNCT04069260Phase 2
• Long Term Extension Study in Patients With Primary HyperoxaluriaActive, not recruitingNCT04042402Phase 3

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