Genetic Diseases, Inborn: all 423 studies

Page 2 of 5. Open to participants first (148), then studies with results posted, then the rest; newest registration first within each.

• Genetic Study of Obstructive AzoospermiaRecruitingNCT05631509
• Technological Development and Clinical Parallel Testing of PGT-GRecruitingNCT05609708
• Investigating Hereditary Risk In Thoracic Cancers (INHERIT)RecruitingNCT05587439
• Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon SyndromeRecruitingNCT05528744
• Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGINRecruitingNCT05499091Not applicable
• Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell DiseaseRecruitingNCT05477563Phase 3
• Rett Syndrome RegistryRecruitingNCT05432349
• Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal DisordersRecruitingNCT05386134
• Molecular Diagnosis of Systemic Autoinflammatory DiseasesRecruitingNCT05364294
• Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled TrialRecruitingNCT05361811Not applicable
• Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)RecruitingNCT05354622
• Metabolic FingerPrintingRecruitingNCT05305729
• An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705RecruitingNCT05295433Phase 1/2
• Extension Study of Infigratinib in Children With Achondroplasia (ACH)Enrolling by invitationNCT05145010Phase 2
• A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 StudyRecruitingNCT05130437Phase 1/2
• Study on Early Genetic Screening and Precise Strategy of Neonatal Critical IllnessRecruitingNCT04905537
• Genome Sequencing in the Intensive Care Unit PopulationEnrolling by invitationNCT04848090Not applicable
• The Prospective Observational COMPRAYA Cohort StudyRecruitingNCT04682470
• SLC13A5 Deficiency Natural History Study - Remote OnlyEnrolling by invitationNCT04681781
• UW Undiagnosed Genetic Diseases ProgramRecruitingNCT04586075
• UZ/KU Leuven Program for Post-mortem Tissue Donation to Enhance ResearchRecruitingNCT04531696Not applicable
• Embryo Health StudyRecruitingNCT04528498
• Follow-up With Preimplantation Genetic Testing PatientsRecruitingNCT04477863
• Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange SyndromeNot yet recruitingNCT04381897Phase 2
• A Long-term Follow-up Study in Participants Who Received CTX001Enrolling by invitationNCT04208529Phase 3
• Open-Label Study of mRNA-3927 in Participants With Propionic AcidemiaRecruitingNCT04159103Phase 1/2
• Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathyRecruitingNCT03998540
• The China Neonatal Genomes ProjectRecruitingNCT03931707
• Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)RecruitingNCT03624374
• Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem CellsRecruitingNCT03612310
• Blood Markers of Early Pancreas CancerRecruitingNCT03568630
• Rapid Whole Genome Sequencing StudyEnrolling by invitationNCT03385876Not applicable
• Rifampin in CYP24A1-related Hypercalcemia and HypercalciuriaRecruitingNCT03301038Phase 2
• CUHK Stroke BiobankRecruitingNCT03291392
• Implementation of Molecular Diagnostic PathwaysRecruitingNCT03084224
• Rady Children's Institute Genomic BiorepositoryRecruitingNCT02917460Not applicable
• Genetic and Metabolic Disease in ChildrenRecruitingNCT02650622
• Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care UnitsRecruitingNCT02551081
• Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkRecruitingNCT02450851
• Biobank Clinical Genetics Maastricht (KG01)RecruitingNCT02266615
• Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their PatentsAvailableNCT01995305
• Inherited Reproductive DisordersRecruitingNCT01500447
• ARPKD Database StudyRecruitingNCT01401998
• Genome Medical Sequencing for Gene DiscoveryRecruitingNCT01087320
• Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell DeathRecruitingNCT00246857
• Evaluation of Patients With Immune Function AbnormalitiesRecruitingNCT00128973
• Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and GranulocytesRecruitingNCT00001405
• Familial Mediterranean Fever and Related Disorders: Genetics and Disease CharacteristicsRecruitingNCT00001373
• Educational Video for Genetic TestingCompletedNCT05472714Not applicableResults posted
• Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.CompletedNCT05425745Phase 3Results posted
• Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)TerminatedNCT05176717Phase 2/3Results posted
• Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)TerminatedNCT05158296Phase 2/3Results posted
• A Study of Lebrikizumab (LY3650150) in Combination With Topical Corticosteroids in Japanese Participants With Moderate-to-Severe Atopic DermatitisCompletedNCT04760314Phase 3Results posted
• A Study to Evaluate Safety, Tolerability and Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Participants With Alpha1-Antitrypsin DeficiencyCompletedNCT04722887Phase 1/2Results posted
• Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia ACompletedNCT04323098Phase 3Results posted
• Safety and Pharmacokinetics of Subcutaneous Injection of OCTA101 in Adult Patients With Severe Hemophilia ATerminatedNCT04046848Phase 1/2Results posted
• Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type IaCompletedNCT03970278Results posted
• Extension Study to Study PQ-110-001 (NCT03140969)TerminatedNCT03913130Phase 1/2Results posted
• A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2CompletedNCT03847909Phase 2Results posted
• Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII InhibitorsCompletedNCT03734588Phase 1/2Results posted
• Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe Atopic Dermatitis on Background Topical TherapyCompletedNCT03720470Phase 3Results posted
• Subcutaneous Hydrocortisone Children With Congenital Adrenal HyperplasiaCompletedNCT03718234Phase 1Results posted
• Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring SubjectsCompletedNCT03627767Phase 3Results posted
• Effect of Benralizumab in Atopic DermatitisCompletedNCT03563066Phase 2Results posted
• Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 StudyTerminatedNCT03563053Phase 3Results posted
• North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2CompletedNCT03548779Not applicableResults posted
• Gene Therapy Study in Severe Hemophilia A Patients With Antibodies Against AAV5TerminatedNCT03520712Phase 1/2Results posted
• A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular DystrophyCompletedNCT03406780Phase 2Results posted
• RESCUE and REVERSE Long-term Follow-upCompletedNCT03406104Phase 3Results posted
• An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1CompletedNCT03350451Phase 2Results posted
• Phase 1 Study of ELX-02 in Healthy Adult SubjectsCompletedNCT03309605Phase 1Results posted
• Perinatal Precision MedicineActive, not recruitingNCT03211039Not applicableResults posted
• Long-Term Outcomes of Ataluren in Duchenne Muscular DystrophyCompletedNCT03179631Phase 3Results posted
• Efficacy and Safety of Dupilumab in Participants ≥12 to <18 Years of Age, With Moderate-to-severe Atopic DermatitisCompletedNCT03054428Phase 3Results posted
• Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of ObesityCompletedNCT03013543Phase 2Results posted
• North Carolina Newborn Exome Sequencing for Universal ScreeningCompletedNCT02826694Not applicableResults posted
• Efficacy and Safety of NFC-1 in Adolescents With Genetic Disorders Impacting mGluR and ADHDCompletedNCT02777931Phase 2/3Results posted
• Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)CompletedNCT02652780Phase 3Results posted
• Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 MutationCompletedNCT02652767Phase 3Results posted
• Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X SyndromeCompletedNCT02642653Phase 4Results posted
• Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood CellsTerminatedNCT02512679Phase 2Results posted
• Genomic Sequencing for Childhood Risk and Newborn IllnessCompletedNCT02422511Not applicableResults posted
• An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation DystrophinopathyTerminatedNCT02090959Phase 3Results posted
• Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan SyndromeCompletedNCT01927861Phase 3Results posted
• Clinical Implementation of Carrier Status Using Next Generation SequencingCompletedNCT01902901Not applicableResults posted
• Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)CompletedNCT01826487Phase 3Results posted
• Etidronate for Arterial Calcifications Due to Deficiency in CD73 (ACDC)CompletedNCT01585402Phase 2Results posted
• Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1ACompletedNCT01401257Phase 2Results posted
• Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or ParentsCompletedNCT01245374Phase 4Results posted
• Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell TransplantsTerminatedNCT01135537Phase 2Results posted
• A Study of the Safety and Immunogenicity of Repeated rhC1INH AdministrationCompletedNCT00851409Phase 2Results posted
• An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-HypercholesterolemiaCompletedNCT00694109Phase 3Results posted
• Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial HypercholesterolemiaCompletedNCT00607373Phase 3Results posted
• Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial HypercholesterolemiaCompletedNCT00477594Phase 2Results posted
• Measure Liver Fat Content After ISIS 301012 (Mipomersen) AdministrationCompletedNCT00362180Phase 2Results posted
• Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Noncancerous Inherited DisordersTerminatedNCT00358657Phase 2Results posted
• Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)CompletedNCT00288704Phase 3Results posted
• Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary AngioedemaCompletedNCT00262301Phase 3Results posted
• DHA and X-Linked Retinitis PigmentosaCompletedNCT00100230Phase 2Results posted
• Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical TrialActive, not recruitingNCT07226622

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