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45 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-DK-0079A Randomized, Double-Blinded, Placebo-Controlled Study of REGN4661, A Leptin Receptor Agonist Antibody, In Patients with Generalized LipodystrophyNo longer recruiting/follow-up only12-125 YearsNIDDKLipodystrophy Generalized
16-DK-0173MEASuRE: Metreleptin Effectiveness and Safety RegistryParticipants currently recruited/enrolled0-125 YearsNIDDKLipodystrophy Generalized
15-DK-0003Compassionate Use of Metreleptin in Previously-Treated Patients with Generalized LipodystrophyParticipants currently recruited/enrolled0-125 YearsNIDDKLipodystrophy Generalized
001124-IExpanded Access IND Protocol: Use of Tecovirimat (TPOXX (R)) for Treatment of Human Non-Variola Orthopoxvirus Infections in Adults and ChildrenEnrolling by Invitation0-125 YearsNIAIDGeneralized
001084-CHA Prospective Natural History Study of Lymphatic AnomaliesParticipants currently recruited/enrolled0-125 YearsNICHDGeneralized
000757-DKNatural History of Pregnancy and Pregnancy Outcomes in Metreleptin-Treated vs Untreated Subjects with LipodystrophyParticipants currently recruited/enrolled0-125 YearsNIDDKLipodystrophy
000756-DKPhase II Study of Growth Hormone Inhibition Using Pegvisomant In Severe Insulin ResistanceParticipants currently recruited/enrolled18-65 YearsNIDDKLipodystrophy
000740-CHA Phase 3 Open-label Extension Study to Evaluate the Long-term Safety and Tolerability of Chronocort in the Treatment of Participants Aged 16 Years and Over with Congenital Adrenal HyperplasiaEnrolling by Invitation18-125 YearsNICHDCongenital
000665-DKA Randomized Double-Blind Placebo-Controlled Study of the LEPR Agonist Antibody REGN4461 for the Treatment of Metabolic Abnormalities in Patients with Familial Partial LipodystrophyParticipants currently recruited/enrolled18-125 YearsNIDDKLipodystrophy
000494-DKNatural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity AssessmentParticipants currently recruited/enrolled18-125 YearsNIDDKCongenital
000411-CCA Feasibility Pilot Study of a Virtual Education-Based Transition Intervention to Improve Transition Readiness in Adolescent and Young Adults with Congenital Adrenal Hyperplasia.Recruitment has not started16-22 YearsCC Congenital
000378-MIdentifying decision making parameters in healthy volunteers (HV) and anxiety patients (AD)Completed Study; data analyses ongoing18-50 YearsNIMH Generalized
000310-CHA Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Efficacy of Gene Therapy for Congenital Adrenal Hyperplasia through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human Recruitment has not started18-125 YearsNICHDCongenital
000297-CHA Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects with Classic Congenital Adrenal Hyperplasia, Followed by Open-Label TreatmentParticipants currently recruited/enrolled18-125 YearsNICHDCongenital
000236-IA Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 DeficiencyParticipants currently recruited/enrolled18-125 YearsNIAIDCongenital
20-DK-0168LYNC-LD Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and their Complications.Participants currently recruited/enrolled3-125 YearsNIDDKLipodystrophy
20-CH-0126Data Collection Study of Pediatric and Adolescent Gynecology ConditionsParticipants currently recruited/enrolled0-125 YearsNICHDCongenital
20-CC-0031A single cohort study collecting interval timed incisional epidermal and dermal tissue samples during surgical procedures to profile temporal response of tissue after noxious stimuli.Completed Study; data analyses ongoing18-125 YearsCC Generalized
20-C-0070A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients with Inborn Errors of ImmunityParticipants currently recruited/enrolled4-69 YearsNCI Congenital
19-CH-0020A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children with Classic 21-Hydroxylase DeficiencyRecruitment has not started2-9 YearsNICHDCongenital
19-C-0085Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Peripheral T cell LymphomaClinical hold/Recruitment or enrollment suspended12-125 YearsNCI Congenital
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 ongoing0-125 YearsNHGRIGeneralized
18-C-0135Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or DysregulationParticipants currently recruited/enrolled4-125 YearsNCI Congenital
17-H-0095Heart Catheterization Using Magnetic Resonance Imaging (MRI) Fluoroscopy and Passive GuidewiresParticipants currently recruited/enrolled18-125 YearsNHLBICongenital
16-DK-0038A Randomized, Double Blind, Placebo-Controlled Study to Assess Efficacy, Safety and Tolerability of ISIS 304801 in Patients with Partial Lipodystrophy with an Open-Label ExtensionCompleted Study; data analyses ongoing18-125 YearsNIDDKLipodystrophy
16-CH-0164A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort (Registered) in the Treatment of Congenital Adrenal HyperplasiaCompleted Study; data analyses ongoing18-80 YearsNICHDCongenital
16-C-0003Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary ImmunodeficienciesParticipants currently recruited/enrolled4-75 YearsNCI Congenital
15-DK-0108Natural History of Noncirrhotic Portal HypertensionParticipants currently recruited/enrolled12-125 YearsNIDDKCongenital
15-DK-0002Compassionate Use of Metreleptin in Previously-Treated Patients with Partial LipodystrophyNo longer recruiting/follow-up only0-125 YearsNIDDKLipodystrophy
14-HG-0071Clinical and Basic Investigations into Known and Suspected Congenital Disorders of GlycosylationParticipants currently recruited/enrolled1-80 YearsNHGRICongenital
14-HG-0055Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersCompleted Study; data analyses ongoing2-80 YearsNHGRICongenital
14-EI-0064Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsParticipants currently recruited/enrolled1-125 YearsNEI Congenital
13-DK-0057Short Term Effects of Leptin Withdrawal or Initiation in Lipodystrophy Independent of Energy IntakeCompleted Study; data analyses ongoing14-70 YearsNIDDKLipodystrophy
10-HG-0065Whole Genome Medical Sequencing for Gene DiscoveryParticipants currently recruited/enrolled0-125 YearsNHGRICongenital
09-H-0225Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-ThalassemiaNo longer recruiting/follow-up only2-125 YearsNHLBICongenital
08-C-0130A Phase II Trial of Peginterferon alfa-2b (PEG-Intron) for Neurofibromatosis Type 1 Related Unresectable, Symptomatic or Life-Threatening Plexiform NeurofibromasCompleted Study; data analyses ongoing0-21 YearsNCI Congenital
06-CH-0011Natural History Study of Patients with Excess AndrogenParticipants currently recruited/enrolled0-99 YearsNICHDCongenital
03-H-0170Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation For Severe Congenital Anemias Including Sickle Cell Disease (SCD) and Beta-ThalassemiaParticipants currently recruited/enrolled2-125 YearsNHLBICongenital
03-AR-0173Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile DermatomyositisParticipants currently recruited/enrolled2-125 YearsNIAMSLipodystrophy
02-DK-0022Long-Term Efficacy of Leptin Replacement in Treatment of LipodystrophyCompleted Study; data analyses ongoing1-125 YearsNIDDKLipodystrophy
02-C-0052Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History StudyParticipants currently recruited/enrolled0-125 YearsNCI Congenital
96-CH-0033An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children with Congenital Adrenal HyperplasiaNo longer recruiting/follow-up only2-18 YearsNICHDCongenital
94-HG-0132The Phenotype and Etiology of Proteus SyndromeParticipants currently recruited/enrolled0-125 YearsNHGRICongenital
92-I-0125A Study of Viral Burden in Peripheral Blood Versus Lymphoid and Bone Marrow Tissue in HIV-Infected IndividualsParticipants currently recruited/enrolled18-125 YearsNIAIDGeneralized
89-M-0006Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy VolunteersParticipants currently recruited/enrolled3-125 YearsNIMH Congenital
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