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76 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
000821-IAn Open-Label, Single-Arm, Phase 1/2 Dose-Escalation Trial of Long-Acting Recombinant Human IL-7 (NT-I7, Efineptakin Alfa) for Idiopathic CD4 LymphopeniaRecruitment has not started18-75 YearsNIAIDCytokine Deficiency
18-I-0022Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients with Leukocyte Adhesion Deficiency Type 1 (LAD1) who have Inflammatory PathologyParticipants currently recruited/enrolled12-65 YearsNIAIDCytokine Deficiency
05-CH-0013Adrenal Function in Critical IllnessCompleted Study; data analyses ongoing15-80 YearsNICHDCytokine Deficiency
03-AR-0173Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile DermatomyositisParticipants currently recruited/enrolled2-125 YearsNIAMSCytokine Deficiency
93-I-0119Detection and Characterization of Host Defense DefectsParticipants currently recruited/enrolled0-125 YearsNIAIDCytokine Deficiency
001074-CHCharacterization of Dysmorphology in Subjects with Creatine Transporter DeficiencyParticipants currently recruited/enrolled2-40 YearsNICHDDeficiency
000977-IPhase I/II Study using Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease with an Alemtuzumab, Busulfan and TBI-based Conditioning Regimen Combined with Cytokine (IL-6, +/- IFN-gamma) AntagonistsParticipants currently recruited/enrolled4-65 YearsNIAIDCytokine
000862-CHPilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined with Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical ControlsParticipants currently recruited/enrolled0-125 YearsNICHDDeficiency
000686-CHIntrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1Participants currently recruited/enrolled18-125 YearsNICHDDeficiency
000612-CPhase 1 Study of NT-I7 (rhIL-7-hyFc) for the Treatment of Kaposi Sarcoma in Patients With or Without Infection with HIVParticipants currently recruited/enrolled18-125 YearsNCI Cytokine
000487-CHNatural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol MetabolismParticipants currently recruited/enrolled0-125 YearsNICHDDeficiency
000476-EThe Investigation of Vitamin D and Menstrual Cycles Trial: A Phase II Clinical trialParticipants currently recruited/enrolled19-40 YearsNIEHSDeficiency
000392-IMetabolic Profiling of Immune Responses in Immune-Mediated DiseasesParticipants currently recruited/enrolled18-75 YearsNIAIDDeficiency
000384-IAnalysis of the Immune Response to COVID-19 Vaccination and Outcomes in Individuals With and Without Immune Deficiencies and DysregulationsParticipants currently recruited/enrolled3-125 YearsNIAIDDeficiency
000344-DKNatural History Study of Parathyroid DisordersParticipants currently recruited/enrolled0-125 YearsNIDDKDeficiency
000272-HDefining the Genetic Etiology of Suppurative Lung Disease in Children and AdultsParticipants currently recruited/enrolled5-45 YearsNHLBIDeficiency
000236-IA Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 DeficiencyParticipants currently recruited/enrolled18-125 YearsNIAIDDeficiency
000110-HA Phase II Study Evaluating Fostamatinib for Hospitalized Adults with COVID-19Completed Study; data analyses ongoing18-125 YearsNHLBICytokine
22-I-0001NADPH Oxidase Correction in mRNA transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)Participants currently recruited/enrolled18-75 YearsNIAIDDeficiency
21-I-0003A Phase 1/2 Study to Evaluate the Safety, Tolerability and Efficacy, of JSP191 for Hematopoietic Cell Transplantation Conditioning to Achieve Engraftment and Immune Reconstitution in Subjects with SCIDParticipants currently recruited/enrolled3-125 YearsNIAIDDeficiency
20-I-0140A Double-Blind, Randomized, Placebo-Controlled, Phase 1, Single-Dose, Dose-Escalating Trial of Long-Acting Recombinant Human IL-7 (NT-I7) for COVID-19Participants currently recruited/enrolled19-75 YearsNIAIDCytokine
20-I-0111COVID-19-associated Lymphopenia Pathogenesis Study in BloodParticipants currently recruited/enrolled18-125 YearsNIAIDCytokine
20-I-0037Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning with h-ATG, Radiation, and SirolimusEnrolling by Invitation3-40 YearsNIAIDDeficiency
20-H-0044Pilot Study to Evaluate the Effect of Nicotinamide Riboside on Immune Activation in PsoriasisCompleted Study; data analyses ongoing18-80 YearsNHLBICytokine
19-I-0027A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects with Indolent Systemic MastocytosisParticipants currently recruited/enrolled18-75 YearsNIAIDCytokine
19-I-0015Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Study of Safety and Efficacy of Abatacept for Treating Chronic Cytopenia in Cytotoxic T-lymphocyte Antigen 4 (CTLA4) HaploinsufficiencyParticipants currently recruited/enrolled8-65 YearsNIAIDDeficiency
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 YearsNICHDDeficiency
18-N-0077Cytokine Microdialysis For Real Time Immune Monitoring in Glioblastoma Patients Undergoing Checkpoint BlockadeCompleted Study; data analyses ongoing18-125 YearsNINDSCytokine
18-I-0041Investigating the Mechanistic Biology of Primary Immunodeficiency DisordersParticipants currently recruited/enrolled0-75 YearsNIAIDDeficiency
18-H-0146Genotype -Phenotype Correlation of PKLR Variants with Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients with Sickle Cell DiseaseParticipants currently recruited/enrolled18-80 YearsNHLBIDeficiency
17-I-0016Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still's-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)Participants currently recruited/enrolled0-99 YearsNIAIDCytokine
17-CH-0078Setmelanotide (RM-493; Rhythm Pharmaceuticals, Inc.) Phase 2 Open-Label Treatment Trials in Patients with Rare Genetic Disorders of ObesityNo longer recruiting/follow-up only6-100 YearsNICHDDeficiency
17-CH-0020Observational Study of Males with Creatine Transporter Deficiency (CTD)No longer recruiting/follow-up only2-40 YearsNICHDDeficiency
17-C-0048Anti-CD30 CAR T Cells with Fully-human Binding Domains for Treating CD30-expressing Lymphomas Including Anaplastic Large Cell LymphomasCompleted Study; data analyses ongoing18-73 YearsNCI Cytokine
16-E-0157CaREFREE Study (Calorie Restriction, Environment and Fitness: Reproductive Effects Evaluation Study)Completed Study; data analyses ongoing18-28 YearsNIEHSDeficiency
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 YearsNIDDKDeficiency
16-C-0094A Phase 1/2 Study of Baricitinib, a JAK1/2 Inhibitor, in Chronic Graft-Versus-Host Disease (cGVHD) after Allogeneic Hematopoietic Stem Cell Transplantation (SCT)No longer recruiting/follow-up only18-125 YearsNCI Cytokine
15-DK-0108Natural History of Noncirrhotic Portal HypertensionParticipants currently recruited/enrolled12-125 YearsNIDDKDeficiency
14-I-0091Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995Completed Study; data analyses ongoing3-125 YearsNIAIDDeficiency
14-I-0089A Retrospective and Cross-Sectional Analysis of Patients Treated for Severe Combined Immunodeficiency (SCID) Since January 1, 1968Enrolling by Invitation2-125 YearsNIAIDDeficiency
14-I-0072A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID DisordersCompleted Study; data analyses ongoing2-125 YearsNIAIDDeficiency
14-I-0009Characterization and Management of Patients with HIV-1 Infection Who Experience Virologic Failure Despite Combination Antiretroviral TherapyCompleted Study; data analyses ongoing18-100 YearsNIAIDDeficiency
14-C-0079An Exploratory Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults with Cancer and Other Chronic IllnessesParticipants currently recruited/enrolled18-125 YearsNCI Deficiency
13-I-0157The Natural History of GATA2 Deficiency and Related DisordersParticipants currently recruited/enrolled2-100 YearsNIAIDDeficiency
13-HG-0199NIH Participation to USIDNET RegistryParticipants currently recruited/enrolled0-125 YearsNHGRIDeficiency
13-H-0060Analysis of Samples Collected from a Subject who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT])Completed Study; data analyses ongoing18-100 YearsNHLBIDeficiency
13-CH-0112Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular DystrophyNo longer recruiting/follow-up only18-125 YearsNICHDCytokine
13-C-0152A Phase I Study of Autologous Activated Natural Killer (NK) Cells +/- rhIL15 in Children and Young Adults with Refractory Solid TumorsCompleted Study; data analyses ongoing2-29 YearsNCI Cytokine
13-C-0132Allogeneic Hematopoietic Stem Cell Transplant for Patients with Mutations in GATA2 or the MonoMAC SyndromeParticipants currently recruited/enrolled8-70 YearsNCI Deficiency
12-H-0110An Open-label, Non-Randomized, Single-Arm Pilot Study to Evaluate the Effectiveness of Etidronate Treatment for Arterial Calcifications due to Deficiency in CD73 (ACDC)Completed Study; data analyses ongoing18-80 YearsNHLBIDeficiency
12-E-0050The Role of Gonadotropin Pulsations in the Regulation of Puberty and FertilityParticipants currently recruited/enrolled14-125 YearsNIEHSDeficiency
11-NR-0014Characterizing Fatigue Experienced by Cancer Patients Receiving Primary Treatment and Cancer SurvivorsParticipants currently recruited/enrolled18-125 YearsNINR Cytokine
11-H-0134A Pilot Study of a Thrombopoietin-Receptor Agonist (TPO-R Agonist), Eltrombopag, in Moderate Aplastic Anemia PatientsNo longer recruiting/follow-up only2-125 YearsNHLBICytokine
11-C-0220Natural History Study of the KSHV Inflammatory Cytokine Syndrome (KICS) Incorporating Pilot Evaluation of KSHV Targeted TherapiesParticipants currently recruited/enrolled18-125 YearsNCI Cytokine
10-I-0148Natural History of Severe Allergic Inflammation and ReactionsParticipants currently recruited/enrolled2-80 YearsNIAIDDeficiency
10-CC-0149Comparing Expectorated and Induced Sputum and Pharyngeal Swabs for Cultures, AFB Smears, and Cytokines in Pulmonary Nontuberculous Mycobacterial InfectionCompleted Study; data analyses ongoing18-80 YearsCC Cytokine
10-C-0201Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells from Patients with DOCK8 Deficiency, LAD-1, and GATA2 DeficiencyParticipants currently recruited/enrolled18-40 YearsNCI Deficiency
10-C-0174Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 DeficiencyParticipants currently recruited/enrolled4-125 YearsNCI Deficiency
09-I-0102Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ LymphocytopeniaParticipants currently recruited/enrolled18-125 YearsNIAIDCytokine
09-I-0086Screening Protocol for Genetic Diseases of Allergic InflammationParticipants currently recruited/enrolled0-99 YearsNIAIDDeficiency
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 Cytokine
07-I-0033Screening Protocol for Detection and Characterization of Infections and Infection SusceptibilityParticipants currently recruited/enrolled0-125 YearsNIAIDDeficiency
06-I-0015Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell DeathParticipants currently recruited/enrolled0-125 YearsNIAIDDeficiency
06-CH-0011Natural History Study of Patients with Excess AndrogenParticipants currently recruited/enrolled0-99 YearsNICHDDeficiency
05-I-0213Screening and Baseline Assessment of Patients with Abnormalities of Immune FunctionParticipants currently recruited/enrolled0-125 YearsNIAIDDeficiency
03-H-0105The Determination of Genetic Basis Of ImmunodeficiencyParticipants currently recruited/enrolled0-125 YearsNHLBICytokine
02-DK-0022Long-Term Efficacy of Leptin Replacement in Treatment of LipodystrophyCompleted Study; data analyses ongoing1-125 YearsNIDDKDeficiency
00-I-0159Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)Participants currently recruited/enrolled0-125 YearsNIAIDDeficiency
00-HG-0209Molecular and Clinical Studies of Primary Immunodeficiency DiseasesNo longer recruiting/follow-up only3-125 YearsNHGRIDeficiency
00-H-0051Cutaneous Tumorigenesis in Patients with Tuberous SclerosisParticipants currently recruited/enrolled18-90 YearsNHLBICytokine
00-CH-0136A Trial of Pamidronate in Children with Osteogenesis ImperfectaCompleted Study; data analyses ongoing2-17 YearsNICHDDeficiency
95-HG-0193Clinical and Basic Investigations into Hermansky-Pudlak SyndromeParticipants currently recruited/enrolled0-125 YearsNHGRIDeficiency
92-CH-0034Studies of Growth Deficiency and Growth Hormone Treatment in Children with Osteogenesis Imperfecta Types III and IVCompleted Study; data analyses ongoing3-16 YearsNICHDDeficiency
91-I-0140Studies of the Pathogenesis of HIV Infection in Human Peripheral Blood Cells and/or Body Fluids in HIV-Infected and HIV-Uninfected VolunteersParticipants currently recruited/enrolled18-125 YearsNIAIDCytokine
89-I-0158Studies of Immune Regulation in Patients with Common Variable Immunodeficiency and Related Humoral Immunodeficiency SyndromesParticipants currently recruited/enrolled2-125 YearsNIAIDDeficiency
76-HG-0238Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic DisordersParticipants currently recruited/enrolled0-125 YearsNHGRIDeficiency