Search the Studies

58 Studies found from all possible combinations of your search terms. Select a protocol that you wish to review.
Protocol Number Title Protocol Status Min-Max Age Institute Keywords
001625-HGProspective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersParticipants currently recruited/enrolled0-100 YearsNHGRI
000744-HGDevelopment of Virtual Reality-based Interventions to Strengthen Cognitive Skillsets Related to Attention Deficit Hyperactivity Disorder (ADHD): A Pilot Phase I and Randomized Controlled Phase II TrialParticipants currently recruited/enrolled10-16 YearsNHGRI
000577-HGGenomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African Americans Study (GENEFORECAST): Prospective COVID-19 Natural History StudyCompleted Study; data analyses ongoing21-125 YearsNHGRI
000547-HGObservational Study of Advanced Data Analytics in Genetic ConditionsParticipants currently recruited/enrolled0-120 YearsNHGRI
000213-HGClinical and Laboratory Study of Rare Skeletal DisordersParticipants currently recruited/enrolled0-125 YearsNHGRI
000070-HGGenomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study(GENE-FORECAST): Sodium Intervention Trial (SIT)/GENE-FORECAST SITNo longer recruiting/follow-up only21-65 YearsNHGRI
21-HG-0020Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal StudyParticipants currently recruited/enrolled18-125 YearsNHGRI
20-HG-0156A Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Assess The Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-Onset GM2 Gangliosidosis (Tay-Sachs Disease And Sandhoff Disease) No longer recruiting/follow-up only2-125 YearsNHGRI
20-HG-0147An Observational Study of the Developing Brain, Impulsivity and Compulsivity.Participants currently recruited/enrolled6-80 YearsNHGRI
20-HG-0120Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and ImmunityParticipants currently recruited/enrolled0-125 YearsNHGRI
20-HG-0090Genetics of COVID-19 Susceptibility and ManifestationsClinical hold/Recruitment or enrollment suspended0-125 YearsNHGRI
20-HG-0034A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus SyndromeParticipants currently recruited/enrolled3-99 YearsNHGRI
20-HG-0025A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects with GNE MyopathyParticipants currently recruited/enrolled18-125 YearsNHGRI
19-HG-0101A Phase 1/2 Study of Intravenous Gene Transfer with an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisParticipants currently recruited/enrolled0-12 YearsNHGRI
19-HG-0092New Approaches for Empowering Studies of Asthma in Populations of African DescentCompleted Study; data analyses ongoing18-125 YearsNHGRI
19-HG-0059Longitudinal Studies of Patients and Families with Familial Platelet Disorders with Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like ConditionsParticipants currently recruited/enrolled0-125 YearsNHGRI
19-C-0132Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History StudyParticipants currently recruited/enrolled18-100 YearsNHGRI
18-HG-0129Reverse Phenotyping Core (RPC)Enrolling by Invitation4-120 YearsNHGRI
18-HG-0064A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)Completed Study; data analyses ongoing1-110 YearsNHGRI
16-HG-0156The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaParticipants currently recruited/enrolled0-125 YearsNHGRI
16-HG-0026New Technology and Child HealthParticipants currently recruited/enrolled18-120 YearsNHGRI
16-HG-0017Genomic Services Research ProgramParticipants currently recruited/enrolled0-105 YearsNHGRI
15-HG-0130Clinical and Genetic Evaluation of Patients with Undiagnosed Disorders Through the Undiagnosed Diseases NetworkParticipants currently recruited/enrolled0-100 YearsNHGRI
15-HG-0049Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolCompleted Study; data analyses ongoing14-50 YearsNHGRI
14-HG-0125Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg UlcersParticipants currently recruited/enrolled18-125 YearsNHGRI
14-HG-0071Clinical and Basic Investigations into Known and Suspected Congenital Disorders of GlycosylationParticipants currently recruited/enrolled1-80 YearsNHGRI
14-HG-0055Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersCompleted Study; data analyses ongoing2-80 YearsNHGRI
14-HG-0048Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study (GENE-FORECAST)Completed Study; data analyses ongoing21-125 YearsNHGRI
13-HG-0158Patient Perspectives and Simulated Clinical InteractionsCompleted Study; data analyses ongoing18-50 YearsNHGRI
13-HG-0053The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial MetabolismParticipants currently recruited/enrolled2-115 YearsNHGRI
12-HG-0202The Neurobehavioral, Environmental and Genetic Factors Impacting the Clinical Course of Attention Deficit Hyperactivity DisorderNo longer recruiting/follow-up only3-125 YearsNHGRI
12-HG-0181The Clinical Study of Patients with Sex Chromosome VariantsCompleted Study; data analyses ongoing18-125 YearsNHGRI
12-HG-0023The Role of the Family Genetics Health Educator in Influencing Health Promoting BehaviorsCompleted Study; data analyses ongoing18-125 YearsNHGRI
12-HG-0022Inherited Diseases, Caregiving, and Social NetworksCompleted Study; data analyses ongoing18-125 YearsNHGRI
11-HG-0218A Natural History Study of Patients with GNE Myopathy and GNE-Related DiseasesParticipants currently recruited/enrolled4-80 YearsNHGRI
11-HG-0110Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora PopulationsEnrolling by Invitation18-120 YearsNHGRI
10-HG-0076Mothers' Thoughts about what their Children EatCompleted Study; data analyses ongoing18-100 YearsNHGRI
10-HG-0065Whole Genome Medical Sequencing for Gene DiscoveryParticipants currently recruited/enrolled0-99 YearsNHGRI
09-HG-0009Participant Reactions to Disease Risk InformationCompleted Study; data analyses ongoing25-40 YearsNHGRI
08-HG-0122Patient-Provider Communication and Interaction in a Virtual Clinical SettingCompleted Study; data analyses ongoing18-125 YearsNHGRI
08-HG-0059Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis PatientsParticipants currently recruited/enrolled2-100 YearsNHGRI
07-HG-0002ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot StudyNo longer recruiting/follow-up only6-95 YearsNHGRI
06-HG-0055Functional Imaging in Subjects with Glucocerebrosidase MutationsCompleted Study; data analyses ongoing18-125 YearsNHGRI
04-HG-0211Analysis of Specimens from Individuals with Pulmonary FibrosisParticipants currently recruited/enrolled18-115 YearsNHGRI
04-HG-0127Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related DisordersParticipants currently recruited/enrolled0-115 YearsNHGRI
02-HG-0107Natural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersParticipants currently recruited/enrolled0-125 YearsNHGRI
01-HG-0109Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)No longer recruiting/follow-up only0-115 YearsNHGRI
00-HG-0209Molecular and Clinical Studies of Primary Immunodeficiency DiseasesNo longer recruiting/follow-up only3-125 YearsNHGRI
00-HG-0153Investigations into Chediak-Higashi Syndrome and Related DisordersParticipants currently recruited/enrolled0-70 YearsNHGRI
00-HG-0141Clinical, Biochemical, and Molecular Investigations into AlkaptonuriaParticipants currently recruited/enrolled2-115 YearsNHGRI
00-HG-0058Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)Completed Study; data analyses ongoing7-110 YearsNHGRI
97-HG-0192Genetic Studies in the Amish and MennonitesCompleted Study; data analyses ongoing18-125 YearsNHGRI
95-HG-0193Clinical and Basic Investigations into Hermansky-Pudlak SyndromeParticipants currently recruited/enrolled0-125 YearsNHGRI
94-HG-0132The Phenotype and Etiology of Proteus SyndromeParticipants currently recruited/enrolled0-99 YearsNHGRI
94-HG-0105An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory DiseasesParticipants currently recruited/enrolled0-115 YearsNHGRI
86-HG-0096Studies of Genetic Heterogeneity in Patients with Lysosomal Storage DisordersEnrolling by Invitation0-125 YearsNHGRI
78-HG-0093Use of Cysteamine in the Treatment of CystinosisParticipants currently recruited/enrolled0-115 YearsNHGRI
76-HG-0238Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic DisordersParticipants currently recruited/enrolled0-115 YearsNHGRI
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