| 002264-HG | Observational Study to Determine Red Blood Cell Alloimmunization Risk Etiology in Patients with Sickle Cell Disease | Participants currently recruited/enrolled | 2-99 Years | NHGRI | | 002066-HG | An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects with Primary Focal Segmental Glomerulosclerosis | Participants currently recruited/enrolled | 18-115 Years | NHGRI | | 001987-HG | Natural History Study to Determine Childhood-Onset Essential Hypertension Etiology | Participants currently recruited/enrolled | 2-99 Years | NHGRI | | 001975-HG | Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers | Participants currently recruited/enrolled | 18-60 Years | NHGRI | | 001625-HG | Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders | Participants currently recruited/enrolled | 0-100 Years | NHGRI | | 000577-HG | Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African Americans Study (GENEFORECAST): Prospective COVID-19 Natural History Study | Completed Study; data analyses ongoing | 21-115 Years | NHGRI | | 000547-HG | Observational Study of Advanced Data Analytics in Genetic Conditions | Participants currently recruited/enrolled | 0-120 Years | NHGRI | | 21-HG-0020 | Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study | Participants currently recruited/enrolled | 18-100 Years | NHGRI | | 20-HG-0120 | Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity | Participants currently recruited/enrolled | 0-115 Years | NHGRI | | 20-HG-0090 | Genetics of COVID-19 Susceptibility and Manifestations | Clinical hold/Recruitment or enrollment suspended | 0-125 Years | NHGRI | | 20-HG-0034 | A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus Syndrome | Participants currently recruited/enrolled | 3-99 Years | NHGRI | | 20-HG-0025 | A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects with GNE Myopathy | Completed Study; data analyses ongoing | 18-115 Years | NHGRI | | 19-HG-0101 | A Phase 1/2 Study of Intravenous Gene Transfer with an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | Participants currently recruited/enrolled | 0-12 Years | NHGRI | | 19-HG-0092 | New Approaches for Empowering Studies of Asthma in Populations of African Descent | Completed Study; data analyses ongoing | 18-125 Years | NHGRI | | 19-HG-0059 | Longitudinal Studies of Patients and Families with Familial Platelet Disorders with Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions | Participants currently recruited/enrolled | 0-100 Years | NHGRI | | 19-C-0132 | Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study | Participants currently recruited/enrolled | 18-100 Years | NHGRI | | 18-HG-0129 | Reverse Phenotyping Core (RPC) | Enrolling by Invitation | 4-120 Years | NHGRI | | 18-HG-0064 | A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) | Completed Study; data analyses ongoing | 1-110 Years | NHGRI | | 16-HG-0156 | The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia | Participants currently recruited/enrolled | 0-100 Years | NHGRI | | 16-HG-0017 | Genomic Services Research Program | Participants currently recruited/enrolled | 0-105 Years | NHGRI | | 15-HG-0130 | Clinical and Genetic Evaluation of Patients with Undiagnosed Disorders Through the Undiagnosed Diseases Network | Participants currently recruited/enrolled | 0-100 Years | NHGRI | | 15-HG-0049 | Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol | Completed Study; data analyses ongoing | 14-50 Years | NHGRI | | 14-HG-0125 | Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers | Completed Study; data analyses ongoing | 18-120 Years | NHGRI | | 14-HG-0071 | Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation and Deglycosylation | Participants currently recruited/enrolled | 0-80 Years | NHGRI | | 14-HG-0055 | Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders | Completed Study; data analyses ongoing | 2-80 Years | NHGRI | | 13-HG-0053 | The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism | Participants currently recruited/enrolled | 2-115 Years | NHGRI | | 12-HG-0181 | The Clinical Study of Patients with Sex Chromosome Variants | Completed Study; data analyses ongoing | 18-125 Years | NHGRI | | 12-HG-0023 | The Role of the Family Genetics Health Educator in Influencing Health Promoting Behaviors | Completed Study; data analyses ongoing | 18-125 Years | NHGRI | | 12-HG-0022 | Inherited Diseases, Caregiving, and Social Networks | Completed Study; data analyses ongoing | 18-125 Years | NHGRI | | 11-HG-0218 | A Natural History Study of Patients with GNE Myopathy and GNE-Related Diseases | Participants currently recruited/enrolled | 4-80 Years | NHGRI | | 11-HG-0110 | Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora Populations | Enrolling by Invitation | 18-120 Years | NHGRI | | 10-HG-0076 | Mothers' Thoughts about what their Children Eat | Completed Study; data analyses ongoing | 18-100 Years | NHGRI | | 10-HG-0065 | Genome Medical Sequencing for Gene Discovery | Participants currently recruited/enrolled | 0-99 Years | NHGRI | | 08-HG-0059 | Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients | Participants currently recruited/enrolled | 2-100 Years | NHGRI | | 07-HG-0002 | ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study | No longer recruiting/follow-up only | 6-95 Years | NHGRI | | 06-HG-0055 | Functional Imaging in Subjects with Glucocerebrosidase Mutations | Completed Study; data analyses ongoing | 18-110 Years | NHGRI | | 04-HG-0211 | Analysis of Specimens from Individuals with Pulmonary Fibrosis | No longer recruiting/follow-up only | 18-115 Years | NHGRI | | 04-HG-0127 | Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders | Participants currently recruited/enrolled | 0-115 Years | NHGRI | | 02-HG-0107 | Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders | Participants currently recruited/enrolled | 0-100 Years | NHGRI | | 01-HG-0109 | Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS) | No longer recruiting/follow-up only | 0-115 Years | NHGRI | | 00-HG-0153 | Investigations into Chediak-Higashi Syndrome and Related Disorders | Participants currently recruited/enrolled | 0-70 Years | NHGRI | | 00-HG-0141 | Clinical, Biochemical, and Molecular Investigations into Alkaptonuria | Participants currently recruited/enrolled | 2-115 Years | NHGRI | | 97-HG-0192 | Genetic Studies in the Amish and Mennonites | Completed Study; data analyses ongoing | 18-125 Years | NHGRI | | 95-HG-0193 | Clinical and Basic Investigations into Hermansky-Pudlak Syndrome | Participants currently recruited/enrolled | 0-115 Years | NHGRI | | 94-HG-0132 | The Phenotype and Etiology of Proteus Syndrome | Participants currently recruited/enrolled | 0-99 Years | NHGRI | | 94-HG-0105 | An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases | Participants currently recruited/enrolled | 0-115 Years | NHGRI | | 86-HG-0096 | Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders | Enrolling by Invitation | 0-125 Years | NHGRI | | 78-HG-0093 | Use of Cysteamine in the Treatment of Cystinosis | Participants currently recruited/enrolled | 0-115 Years | NHGRI | | 76-HG-0238 | Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders | Participants currently recruited/enrolled | 0-115 Years | NHGRI | |