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60 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
20-HG-0120Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 PandemicParticipants currently recruited/enrolled0-125 YearsNHGRI
20-HG-0090Genetics of COVID-19 Susceptibility and ManifestationsParticipants currently recruited/enrolled3-125 YearsNHGRI
20-HG-0034A Multi-Cohort Phase 2 Dose-Escalation Study of ARQ 092 (Miransertib) in Proteus SyndromeParticipants currently recruited/enrolled3-25 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/enrolled18-70 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 DescentParticipants currently recruited/enrolled18-125 YearsNHGRI
19-HG-0059Longitudinal Studies of Patient with FPDMMParticipants currently recruited/enrolled0-125 YearsNHGRI
18-HG-0129The Genomic Ascertainment Cohort (TGAC)Participants currently recruited/enrolled2-125 YearsNHGRI
18-HG-0064A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)Participants currently recruited/enrolled0-125 YearsNHGRI
16-HG-0156The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaParticipants currently recruited/enrolled2-100 YearsNHGRI
16-HG-0026New Technology and Child HealthParticipants currently recruited/enrolled18-125 YearsNHGRI
16-HG-0017Genomic Sequencing Secondary Findings ResearchParticipants currently recruited/enrolled0-125 YearsNHGRI
16-HG-0014Phase 1 Dose Finding Trial of ARQ 092 in Children and Adults with Proteus SyndromeNo longer recruiting/follow-up only12-65 YearsNHGRI
15-HG-0130Clinical and Genetic Evaluation of Patients with Undiagnosed Disorders Through the Undiagnosed Diseases NetworkParticipants currently recruited/enrolled0-100 YearsNHGRI
15-HG-0120Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K ActivationCompleted Study; data analyses ongoing0-65 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)Participants currently recruited/enrolled21-65 YearsNHGRI
13-HG-0199NIH Participation to USIDNET RegistryParticipants currently recruited/enrolled0-125 YearsNHGRI
13-HG-0171Randomized Trial of Consent Interventions for NIH Whole Exome and Whole Genome Sequencing StudiesClinical hold/Recruitment or enrollment suspended18-125 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/enrolled2-125 YearsNHGRI
12-HG-0202The Neurobehavioral, Environmental and Genetic Factors Impacting the Clinical Course of Attention Deficit Hyperactivity DisorderParticipants currently recruited/enrolled3-80 YearsNHGRI
12-HG-0181The Clinical Study of Patients with Sex Chromosome VariantsParticipants currently recruited/enrolled18-125 YearsNHGRI
12-HG-0161Therapeutic Trial of EPI -743 In Patients with Disorders of Energy Utilization or Oxidation-ReductionCompleted Study; data analyses ongoing2-11 YearsNHGRI
12-HG-0147Genetic Studies of Non-Alcoholic Fatty Liver DiseaseCompleted Study; data analyses ongoing0-125 YearsNHGRI
12-HG-0023The Role of the Family Genetics Health Educator in Influencing Health Promoting BehaviorsParticipants currently recruited/enrolled18-125 YearsNHGRI
12-HG-0022Inherited Diseases, Caregiving, and Social NetworksParticipants currently recruited/enrolled18-125 YearsNHGRI
11-HG-0238Weight Management Interactions in a Virtual Clinical EnvironmentCompleted Study; data analyses ongoing20-50 YearsNHGRI
11-HG-0218A Natural History Study of Patients with GNE MyopathyParticipants currently recruited/enrolled18-80 YearsNHGRI
11-HG-0110Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora PopulationsParticipants currently recruited/enrolled18-125 YearsNHGRI
10-HG-0076Parents Thoughts about Kids and EatingCompleted Study; data analyses ongoing18-100 YearsNHGRI
10-HG-0065Whole Genome Medical Sequencing for Gene DiscoveryParticipants currently recruited/enrolled0-125 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/enrolled2-50 YearsNHGRI
07-HG-0002ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot StudyParticipants currently recruited/enrolled6-95 YearsNHGRI
06-HG-0134Natural History and Biology of Dermal Neurofibromas in Neurofibromatosis Type 1Completed Study; data analyses ongoing20-99 YearsNHGRI
06-HG-0055Functional Imaging in Subjects with Glucocerebrosidase MutationsCompleted Study; data analyses ongoing21-125 YearsNHGRI
05-HG-0152Variation in Gene Expression in Neurofibromatosis Type 1No longer recruiting/follow-up only2-100 YearsNHGRI
04-HG-0211Procurement and Analysis of Specimens from Individuals with Pulmonary FibrosisParticipants currently recruited/enrolled18-125 YearsNHGRI
04-HG-0127Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related DisordersParticipants currently recruited/enrolled2-125 YearsNHGRI
03-HG-0264Clinical and Molecular Investigations Into CiliopathiesCompleted Study; data analyses ongoing0-80 YearsNHGRI
02-HG-0107Investigation of Neurodegeneration in Glycosphingolipid Storage 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 only0-125 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/enrolled2-90 YearsNHGRI
00-HG-0058Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)Completed Study; data analyses ongoing7-125 YearsNHGRI
99-HG-0056Pulmonary Fibrosis Associated with Rheumatoid Arthritis: Definition of the Natural History of DiseaseCompleted Study; data analyses ongoing21-125 YearsNHGRI
98-HG-0249Genetic Analysis of Brain DisordersParticipants currently recruited/enrolled0-125 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/enrolled1-80 YearsNHGRI
94-HG-0132The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth DisordersParticipants currently recruited/enrolled0-100 YearsNHGRI
94-HG-0105An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory DiseasesParticipants currently recruited/enrolled0-125 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/enrolled0-125 YearsNHGRI
76-HG-0238Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic DisordersParticipants currently recruited/enrolled0-125 YearsNHGRI