Genetic Diseases, Inborn: all 422 studies

Page 1 of 5. Open to participants first (147), then studies with results posted, then the rest; newest registration first within each.

• Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare DiseasesRecruitingNCT07884227
• A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy AdultsNot yet recruitingNCT07869654Phase 1
• Outcome of HSCT in Children at Ramathibodi HospitalRecruitingNCT07857746
• EpiSign International: Expanding Epigenomic Testing in Rare DiseaseNot yet recruitingNCT07839754
• Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIBNot yet recruitingNCT07818759Phase 1/2
• Speech Therapy for Children With Rare Genetic Conditions and Childhood Apraxia of SpeechRecruitingNCT07815249Not applicable
• Market Research of a Slow Release Protein Substitute for the Dietary Management of PKUNot yet recruitingNCT07802366Not applicable
• Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, CanadaNot yet recruitingNCT07799792
• The Genetics UpdateNot yet recruitingNCT07795879Not applicable
• RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.Enrolling by invitationNCT07787975
• UW ISeqU: Clinical Impact of Whole-genome Sequencing in AdultsEnrolling by invitationNCT07718971
• The Mayo Clinic Rare and Undiagnosed Disease HackathonEnrolling by invitationNCT07714161
• Study Evaluating a Gene Therapy for IPEX Syndrome Through the Expression of FOXP3 on Deficient T Cells to Produce Tregs-like.Not yet recruitingNCT07697118Phase 1/2
• Multicenter Epidemiological Study for the Evaluation of the Seroprevalence of Total and Neutralizing Antibodies Against Adenoassociated Virus Serotypes Used in Gene Therapy in Patients With Neuromuscular Diseases of Genetic Origin.Not yet recruitingNCT07633951Not applicable
• A Long-Term Observational Study of Patients With FucosidosisRecruitingNCT07615400
• Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)RecruitingNCT07608432Phase 3
• A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 SkippingRecruitingNCT07587242Phase 3
• I-TOPS With Patients With Genetic Syndrome SYN-TOPSRecruitingNCT07563218Not applicable
• A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)RecruitingNCT07555483Phase 3
• Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal DisordersRecruitingNCT07493096
• BAG3-DCM Natural History StudyNot yet recruitingNCT07486752
• Study of Zodasiran in Adolescent Participants With Homozygous Familial HypercholesterolemiaRecruitingNCT07473843Phase 3
• Health Economic Evaluation of Non-Invasive Prenatal Exclusion DiagnosisRecruitingNCT07469657
• Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With AchondroplasiaRecruitingNCT07441876Phase 2/3
• A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)RecruitingNCT07431112Phase 1
• Determinants and Consequences of the Transition to Adulthood for Adolescents With Severe Haemophilia: TRANSHEMO 2, an Ancillary Study to the TRANSHEMO ProjectRecruitingNCT07418827
• Prenatal Transplantation for Fetuses With Fanconi AnemiaNot yet recruitingNCT07408583Phase 1/2
• Open-Label, Long-Term, Extension Study of Infigratinib in Children With HypochondroplasiaEnrolling by invitationNCT07393373Phase 2
• Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease RiskRecruitingNCT07365254
• Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON PatientsRecruitingNCT07303296Phase 2
• Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis ImperfectaRecruitingNCT07287241
• Efficacy and Safety of SIL-8301 for Control of Hemolysis in a Uniform Sickle Cell Disease EndotypeRecruitingNCT07282210Phase 2
• Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7ARecruitingNCT07278843
• Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 SkippingAvailableNCT07250737
• Safety of Anumigilimab (CSL324) in Adults With Sickle Cell Disease (SCD)RecruitingNCT07224360Phase 2
• An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE)RecruitingNCT07220603Phase 2
• GMEB-SASS: A Gene-Modified Skin Substitute for RDEB TreatmentRecruitingNCT07193134Phase 1/2
• Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)Not yet recruitingNCT07119606Not applicable
• Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome SequencingRecruitingNCT07106853
• BCI@Home: Brain Computer Interface Solutions to Enable Youth Living With Severe DisabilitiesRecruitingNCT07073378Not applicable
• Natural History of Type 1 Interferonopathies: Insights From a European CohortRecruitingNCT07040774
• Using a Speech-Generating Device to Support Communication in Rare Genetic ConditionsRecruitingNCT07039084Not applicable
• The Combined First Trimester ScreeningRecruitingNCT07015203
• Rapid Diagnostics for Genetic Disorders in NeonatesNot yet recruitingNCT07005700Not applicable
• A Study Investigating the Effectiveness and Safety of Garadacimab for Treating Patients With Hereditary Angioedema (HAE)RecruitingNCT07001280
• Lynch Syndrome in Colorectal Cancer SurgeryNot yet recruitingNCT06990633
• Large Language Models To Improve the Quality of Care of Cardiology PatientsRecruitingNCT06935253Not applicable
• A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type IEnrolling by invitationNCT06926621Phase 2
• Genomic Profiling of Genetic and Rare DiseasesRecruitingNCT06926127Not applicable
• A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis BullosaRecruitingNCT06917690Phase 3
• Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEARTRecruitingNCT06898307
• An Interventional Study of Infigratinib in Children With HypochondroplasiaEnrolling by invitationNCT06873035Phase 2/3
• Herbal Ointment in Treating Atopic Dermatitis TopicallyRecruitingNCT06850311Phase 2/3
• Association Between Genetic Polymorphisms and Type 2 Asthma in ChildrenRecruitingNCT06840717
• N-Care Project: Enhancing Asian-Pacific CollaborationRecruitingNCT06821386
• Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)RecruitingNCT06805695
• PREcision Diagnostics in Rare GenetIC Diseases and Tumors - Long Read SequencingRecruitingNCT06796751
• Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding GenomesRecruitingNCT06775561
• Spanish Registry of Autoimmune and Cholestatic Liver Diseases (ColHai)RecruitingNCT06767605
• Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National CohortRecruitingNCT06762002
• Pediatric Neurogenetic Diagnosis Support PlatformRecruitingNCT06725901Not applicable
• A Phase 3 Study of NTLA-2001 in ATTRv-PNRecruitingNCT06672237Phase 3
• Speech Therapy and Parenting for Early Socio-communicAtive sKillsRecruitingNCT06666777Not applicable
• PKP2-ACM Natural History StudyRecruitingNCT06644742
• Effects of Hand Arm Bimanual Intensive Therapy Including Lower Extremity on Balance and Coordination in Ataxic Cerebral PalsyRecruitingNCT06639802Not applicable
• Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University HospitalRecruitingNCT06601829
• STXBP1 and SYNGAP1 Related Disorders Natural History StudyRecruitingNCT06555965
• Clinical Performance of Medical Device Software "Lipidica 1.0" for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer ScreeningRecruitingNCT06549725Not applicable
• The Natural History of Mitochondrial DiseasesRecruitingNCT06504433
• Sanger Human Cell Atlasing ProjectEnrolling by invitationNCT06497673
• Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta ThalassemiaRecruitingNCT06490627Phase 2
• Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic DiseasesEnrolling by invitationNCT06450964
• Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory DiseasesRecruitingNCT06435468Not applicable
• Prospective Clinical Assessment Study in Children With HypochondroplasiaRecruitingNCT06410976
• Single Participant Study of an Experimental ASO Treatment for TUBB4A-related LeukodystrophyEnrolling by invitationNCT06369974Phase 1/2
• Lipid Transport Disorder Italian Genetic Record (LIPIGEN)RecruitingNCT06362473
• Effect of Large Neutral Amino Acids in Adults With Classical PhenylketonuriaRecruitingNCT06337864Not applicable
• Pancreatic Cancer Screening in a Population at High RiskRecruitingNCT06330441Not applicable
• An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome SequencingRecruitingNCT06306521Not applicable
• Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.RecruitingNCT06289348
• Transcranial Magnetic Stimulation (TMS) in Genetic EpilepsiesRecruitingNCT06284291Not applicable
• Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)RecruitingNCT06237790
• Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological DysfunctionsRecruitingNCT06235580
• Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic DiseasesRecruitingNCT06183138
• MCLENA-2: A Phase II Clinical Trial for the Assessment of Lenalidomide in Patients With Mild Cognitive ImpairmentNot yet recruitingNCT06177028Phase 2
• SLC13A5 Deficiency Natural History Study - United States OnlyEnrolling by invitationNCT06144957
• Safety and Efficacy of RM-004 Cells for Hemoglobin H-Constant Spring DiseaseRecruitingNCT06107400Early Phase 1
• Rehabilitation Program on Genetic and Degenerative AtaxiaNot yet recruitingNCT06089863Not applicable
• Newborn Genomics ProgrammeRecruitingNCT06081075
• Structural Chromosome Rearrangements and Brain DisordersEnrolling by invitationNCT06072079
• Helix Research NetworkRecruitingNCT06057181
• Prospective Cohort Study of Neurogenetic DiseasesRecruitingNCT06048523Not applicable
• Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic TestingRecruitingNCT06023472Not applicable
• Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History StudyRecruitingNCT06016946
• Clinical Presentation of Genetic Disorders in Patients Attending Genetic Outpatient Clinic of Assiut University Children HospitalNot yet recruitingNCT05888155
• Natural History Study of Patients with HPDL MutationsRecruitingNCT05848271
• A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)Enrolling by invitationNCT05768386
• Genetic Disorders of Obesity Program DatabaseRecruitingNCT05747976
• Whole Genome Sequencing (WGS) on IVF Embryos and Individual PatientsRecruitingNCT05739890
• Genetic Study of Obstructive AzoospermiaRecruitingNCT05631509

← Genetic Diseases, Inborn overview