National Human Genome Research Institute (NHGRI): all 203 studies

Page 1 of 3. Open to participants first (32), then studies with results posted, then the rest; newest registration first within each.

• Deciphering the Genetic Architecture of Autoimmune DiseasesRecruitingNCT06948110
• Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell DiseaseRecruitingNCT06944067
• Childhood-Onset Essential Hypertension Natural History StudyRecruitingNCT06778239
• An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Podocyte DiseasesRecruitingNCT06664814Phase 2
• Genetic Analysis of Uncommon Disease Presentations in Non-US PopulationsRecruitingNCT06595940
• Cybersickness Prevention and Mitigation in Virtual Reality for Healthy VolunteersRecruitingNCT06552754Not applicable
• A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersRecruitingNCT06092346
• Observational Study of Advanced Data Analytics in Genetic ConditionsRecruitingNCT05657405
• Caregiving Networks Across Disease Context and the Life CourseRecruitingNCT05007990
• Acute Infection in Mitochondrial Disease: Metabolism, Infection and ImmunityRecruitingNCT04419870
• IDENTIFY Study: Natural History of Maternal NeoplasiaRecruitingNCT04049604
• A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisRecruitingNCT03952637Phase 1/2
• Longitudinal Studies of Patient With FPDMMRecruitingNCT03854318
• Reverse Phenotyping CoreEnrolling by invitationNCT03632239
• Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaRecruitingNCT02890342
• Genomic Services Research ProgramRecruitingNCT02595957
• Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkRecruitingNCT02450851
• Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of GlycosylationRecruitingNCT02089789
• The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of MetabolismRecruitingNCT01780168
• Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora PopulationsEnrolling by invitationNCT01316783
• Genome Medical Sequencing for Gene DiscoveryRecruitingNCT01087320
• Studies of Skin Microbes in Healthy People and in People With Skin ConditionsRecruitingNCT00605878
• Diagnosis and Treatment of Patients With Inborn Errors of MetabolismRecruitingNCT00369421
• Use of Cysteamine in the Treatment of CystinosisRecruitingNCT00359684
• Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT00078078
• Natural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersRecruitingNCT00029965
• Study of Chediak-Higashi SyndromeRecruitingNCT00005917
• Study of AlkaptonuriaRecruitingNCT00005909
• Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
• Study of Proteus Syndrome and Related Congenital DisordersRecruitingNCT00001403
• Familial Mediterranean Fever and Related Disorders: Genetics and Disease CharacteristicsRecruitingNCT00001373
• Genetic Studies of Lysosomal Storage DisordersEnrolling by invitationNCT00001215
• Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic CounselingCompletedNCT03225170Not applicableResults posted
• Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K ActivationCompletedNCT02428296Phase 2Results posted
• An Open Label Phase 2 Study of ManNAc in Subjects With GNE MyopathyCompletedNCT02346461Phase 2Results posted
• Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester DiseaseCompletedNCT02281760Phase 2Results posted
• EPI-743 for Metabolism or Mitochondrial DisordersCompletedNCT01642056Phase 1/2Results posted
• Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1/2Results posted
• Long-Term Study of Nitisinone to Treat AlkaptonuriaCompletedNCT00107783Phase 2Results posted
• Care Choreographies and the Making of the Psychosocial in Genetic CounselingCompletedNCT06280833
• Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study (GENE-FORECAST): Prospective COVID-19 Natural History StudyCompletedNCT05484882
• Genetic and Social Network Correlates of Rheumatoid Arthritis Outcomes in Hispanic Populations: A Prospective StudyCompletedNCT05457816
• Living With Sickle Cell Disease in the COVID-19 PandemicCompletedNCT04417673
• Genetics of COVID-19 Susceptibility and ManifestationsCompletedNCT04371432
• MK-7075 (Miransertib) in Proteus SyndromeActive, not recruitingNCT04316546Phase 2
• Mapping Institutional Identities and the Production of EthicsCompletedNCT03983863
• New Approaches for Empowering Studies of Asthma in Populations of African DescentCompletedNCT03937804
• Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome SequencingCompletedNCT03605004
• Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)CompletedNCT03478839
• Examining the Knowledge, Attitudes, and Beliefs of Sickle Cell Disease Patients, Parents of Patients With Sickle Cell Disease, and Providers Towards the Integration of CRISPR in Clinical CareCompletedNCT03167450
• Pregnant Women s Views About the Ethics of Prenatal Whole Genome SequencingCompletedNCT03105492
• Suitability of Some Data Quality Controls Thresholds for Genetic Association Studies of Admixed PopulationWithdrawnNCT02770001
• Where Culture Meets Genetics: Exploring Latinas Causal Attributions of Breast and Colon Cancer and Models of Disease InheritanceCompletedNCT02767986
• New Technology and Child HealthCompletedNCT02622035Not applicable
• Dose Finding Trial of MK-7075 in Children and Adults With Proteus SyndromeCompletedNCT02594215Phase 1
• Are Genetic Counselors Screening for Adolescent Suicide Risk?CompletedNCT02486120
• Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolCompletedNCT02322177
• Physicians' Experiences With and Attitudes Toward Non-Medical Sex Selection Through Preimplantation Genetic DiagnosisCompletedNCT02225171
• Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular DystrophyCompletedNCT02194725
• Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)CompletedNCT02156102
• The Genetic Basis of Acquired Heart Disease in AfricaCompletedNCT02124109
• Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of CystinosisWithdrawnNCT02124070Phase 1/2
• Personalized Medicine Decision-Making in a Virtual Clinical SettingCompletedNCT02108041
• Study on Moebius Syndrome and Congenital Facial Weakness DisordersCompletedNCT02055248
• Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral VectorCompletedNCT02022696Phase 1
• Black Family Eating Behaviors StudyCompletedNCT02015078
• Participation in a Research Registry for Immune DisordersCompletedNCT01953016
• The Genetic Basis of Congenital Heart Disease in AfricaCompletedNCT01952171
• Genetic and Other Aspects of PodoconiosisTerminatedNCT01939431
• A Study of Consent Forms for Whole Exome and Whole Genome SequencingCompletedNCT01927770
• The Role of Uncertainty in Coping: The Experience of Parents of Children With Undiagnosed Medical ConditionsCompletedNCT01905865
• Patient Perspectives and Doctor VisitsCompletedNCT01888913
• Adaptation to Living With a BRCA1/2 MutationCompletedNCT01866865
• Effect of Lung Cancer Diagnoses on Family BehaviorsCompletedNCT01862770
• Living With Frontotemporal DementiaTerminatedNCT01738386
• Genetic, Brain Structure, and Environmental Effects on ADHDCompletedNCT01721720
• The Clinical Study of Sex Chromosome VariantsCompletedNCT01661010
• Uncertain Genetic Test Results for Lynch SyndromeCompletedNCT01646112
• Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)CompletedNCT01634750Phase 1
• Developing the Family Map: Looking at Communal CopingCompletedNCT01633021
• Genetic Studies of Non-Alcoholic Fatty Liver DiseaseTerminatedNCT01629095
• Testing Spanish-language Genetic LiteracyCompletedNCT01610583
• Family Genetics Health Education and Healthy BehaviorsCompletedNCT01498276
• Inherited Diseases, Caregiving, and Social NetworksCompletedNCT01498263
• Weight Management Interactions in a Virtual Clinical EnvironmentCompletedNCT01443910
• The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888
• A Natural History Study of Patients With GNE Myopathy and GNE-Related DiseasesCompletedNCT01417533
• Clinical and Pathophysiological Investigations Into Erdheim Chester DiseaseCompletedNCT01417520
• The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD)TerminatedNCT01386515
• Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African AmericansTerminatedNCT01374685
• Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early ParticipantsCompletedNCT01369953
• Personalized Genomic ResearchCompletedNCT01294345
• Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their ParentsWithdrawnNCT01182857
• The PTC124 (Ataluren) Clinical Trial for Duchenne Muscular Dystrophy: Exploration of the Experiences of Parents, Clinician Researchers, and the Industry SponsorCompletedNCT01182324
• The Role of Social Comparisons in Coping and Quality of Life Following a Prostate Cancer DiagnosisCompletedNCT01176526
• A Coping Effectiveness Training Intervention for Caregivers of Children With Autism Spectrum: A Feasibility StudyCompletedNCT01168284Not applicable
• The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory StudyCompletedNCT01160536
• Promoting Consistent Shoe Use Among Children At High Risk for PodoconiosisCompletedNCT01160523
• Perceptions of Thalassemia Major in Singapore: An Exploratory Study of StigmaCompletedNCT01129076
• Mothers' Thoughts About Kids and EatingCompletedNCT01087346Not applicable

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