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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-I
An Open-Label, Single-Arm, Phase 1/2 Dose-Escalation Trial of Long-Acting Recombinant Human IL-7 (NT-I7, Efineptakin Alfa) for Idiopathic CD4 Lymphopenia
Recruitment has not started
18-75 Years
NIAID
Cytokine Deficiency
18-I-0022
Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients with Leukocyte Adhesion Deficiency Type 1 (LAD1) who have Inflammatory Pathology
Participants currently recruited/enrolled
12-65 Years
NIAID
Cytokine Deficiency
05-CH-0013
Adrenal Function in Critical Illness
Completed Study; data analyses ongoing
15-80 Years
NICHD
Cytokine Deficiency
03-AR-0173
Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis
Participants currently recruited/enrolled
2-125 Years
NIAMS
Cytokine Deficiency
93-I-0119
Detection and Characterization of Host Defense Defects
Participants currently recruited/enrolled
0-125 Years
NIAID
Cytokine Deficiency
001074-CH
Characterization of Dysmorphology in Subjects with Creatine Transporter Deficiency
Participants currently recruited/enrolled
2-40 Years
NICHD
Deficiency
000977-I
Phase 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) Antagonists
Participants currently recruited/enrolled
4-65 Years
NIAID
Cytokine
000862-CH
Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined with Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Participants currently recruited/enrolled
0-125 Years
NICHD
Deficiency
000686-CH
Intrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1
Participants currently recruited/enrolled
18-125 Years
NICHD
Deficiency
000612-C
Phase 1 Study of NT-I7 (rhIL-7-hyFc) for the Treatment of Kaposi Sarcoma in Patients With or Without Infection with HIV
Participants currently recruited/enrolled
18-125 Years
NCI
Cytokine
000487-CH
Natural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Participants currently recruited/enrolled
0-125 Years
NICHD
Deficiency
000476-E
The Investigation of Vitamin D and Menstrual Cycles Trial: A Phase II Clinical trial
Participants currently recruited/enrolled
19-40 Years
NIEHS
Deficiency
000392-I
Metabolic Profiling of Immune Responses in Immune-Mediated Diseases
Participants currently recruited/enrolled
18-75 Years
NIAID
Deficiency
000384-I
Analysis of the Immune Response to COVID-19 Vaccination and Outcomes in Individuals With and Without Immune Deficiencies and Dysregulations
Participants currently recruited/enrolled
3-125 Years
NIAID
Deficiency
000344-DK
Natural History Study of Parathyroid Disorders
Participants currently recruited/enrolled
0-125 Years
NIDDK
Deficiency
000272-H
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
Participants currently recruited/enrolled
5-45 Years
NHLBI
Deficiency
000236-I
A Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency
Participants currently recruited/enrolled
18-125 Years
NIAID
Deficiency
000110-H
A Phase II Study Evaluating Fostamatinib for Hospitalized Adults with COVID-19
Completed Study; data analyses ongoing
18-125 Years
NHLBI
Cytokine
22-I-0001
NADPH Oxidase Correction in mRNA transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)
Participants currently recruited/enrolled
18-75 Years
NIAID
Deficiency
21-I-0003
A 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 SCID
Participants currently recruited/enrolled
3-125 Years
NIAID
Deficiency
20-I-0140
A Double-Blind, Randomized, Placebo-Controlled, Phase 1, Single-Dose, Dose-Escalating Trial of Long-Acting Recombinant Human IL-7 (NT-I7) for COVID-19
Participants currently recruited/enrolled
19-75 Years
NIAID
Cytokine
20-I-0111
COVID-19-associated Lymphopenia Pathogenesis Study in Blood
Participants currently recruited/enrolled
18-125 Years
NIAID
Cytokine
20-I-0037
Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning with h-ATG, Radiation, and Sirolimus
Enrolling by Invitation
3-40 Years
NIAID
Deficiency
20-H-0044
Pilot Study to Evaluate the Effect of Nicotinamide Riboside on Immune Activation in Psoriasis
Completed Study; data analyses ongoing
18-80 Years
NHLBI
Cytokine
19-I-0027
A 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 Mastocytosis
Participants currently recruited/enrolled
18-75 Years
NIAID
Cytokine
19-I-0015
Phase 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) Haploinsufficiency
Participants currently recruited/enrolled
8-65 Years
NIAID
Deficiency
19-CH-0020
A 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 Deficiency
Recruitment has not started
2-9 Years
NICHD
Deficiency
18-N-0077
Cytokine Microdialysis For Real Time Immune Monitoring in Glioblastoma Patients Undergoing Checkpoint Blockade
Completed Study; data analyses ongoing
18-125 Years
NINDS
Cytokine
18-I-0041
Investigating the Mechanistic Biology of Primary Immunodeficiency Disorders
Participants currently recruited/enrolled
0-75 Years
NIAID
Deficiency
18-H-0146
Genotype -Phenotype Correlation of PKLR Variants with Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients with Sickle Cell Disease
Participants currently recruited/enrolled
18-80 Years
NHLBI
Deficiency
17-I-0016
Studies 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/enrolled
0-99 Years
NIAID
Cytokine
17-CH-0078
Setmelanotide (RM-493; Rhythm Pharmaceuticals, Inc.) Phase 2 Open-Label Treatment Trials in Patients with Rare Genetic Disorders of Obesity
No longer recruiting/follow-up only
6-100 Years
NICHD
Deficiency
17-CH-0020
Observational Study of Males with Creatine Transporter Deficiency (CTD)
No longer recruiting/follow-up only
2-40 Years
NICHD
Deficiency
17-C-0048
Anti-CD30 CAR T Cells with Fully-human Binding Domains for Treating CD30-expressing Lymphomas Including Anaplastic Large Cell Lymphomas
Completed Study; data analyses ongoing
18-73 Years
NCI
Cytokine
16-E-0157
CaREFREE Study (Calorie Restriction, Environment and Fitness: Reproductive Effects Evaluation Study)
Completed Study; data analyses ongoing
18-28 Years
NIEHS
Deficiency
16-DK-0038
A Randomized, Double Blind, Placebo-Controlled Study to Assess Efficacy, Safety and Tolerability of ISIS 304801 in Patients with Partial Lipodystrophy with an Open-Label Extension
Completed Study; data analyses ongoing
18-125 Years
NIDDK
Deficiency
16-C-0094
A 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 only
18-125 Years
NCI
Cytokine
15-DK-0108
Natural History of Noncirrhotic Portal Hypertension
Participants currently recruited/enrolled
12-125 Years
NIDDK
Deficiency
14-I-0091
Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
Completed Study; data analyses ongoing
3-125 Years
NIAID
Deficiency
14-I-0089
A Retrospective and Cross-Sectional Analysis of Patients Treated for Severe Combined Immunodeficiency (SCID) Since January 1, 1968
Enrolling by Invitation
2-125 Years
NIAID
Deficiency
14-I-0072
A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders
Completed Study; data analyses ongoing
2-125 Years
NIAID
Deficiency
14-I-0009
Characterization and Management of Patients with HIV-1 Infection Who Experience Virologic Failure Despite Combination Antiretroviral Therapy
Completed Study; data analyses ongoing
18-100 Years
NIAID
Deficiency
14-C-0079
An Exploratory Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults with Cancer and Other Chronic Illnesses
Participants currently recruited/enrolled
18-125 Years
NCI
Deficiency
13-I-0157
The Natural History of GATA2 Deficiency and Related Disorders
Participants currently recruited/enrolled
2-100 Years
NIAID
Deficiency
13-HG-0199
NIH Participation to USIDNET Registry
Participants currently recruited/enrolled
0-125 Years
NHGRI
Deficiency
13-H-0060
Analysis of Samples Collected from a Subject who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT])
Completed Study; data analyses ongoing
18-100 Years
NHLBI
Deficiency
13-CH-0112
Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular Dystrophy
No longer recruiting/follow-up only
18-125 Years
NICHD
Cytokine
13-C-0152
A Phase I Study of Autologous Activated Natural Killer (NK) Cells +/- rhIL15 in Children and Young Adults with Refractory Solid Tumors
Completed Study; data analyses ongoing
2-29 Years
NCI
Cytokine
13-C-0132
Allogeneic Hematopoietic Stem Cell Transplant for Patients with Mutations in GATA2 or the MonoMAC Syndrome
Participants currently recruited/enrolled
8-70 Years
NCI
Deficiency
12-H-0110
An 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 ongoing
18-80 Years
NHLBI
Deficiency
12-E-0050
The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility
Participants currently recruited/enrolled
14-125 Years
NIEHS
Deficiency
11-NR-0014
Characterizing Fatigue Experienced by Cancer Patients Receiving Primary Treatment and Cancer Survivors
Participants currently recruited/enrolled
18-125 Years
NINR
Cytokine
11-H-0134
A Pilot Study of a Thrombopoietin-Receptor Agonist (TPO-R Agonist), Eltrombopag, in Moderate Aplastic Anemia Patients
No longer recruiting/follow-up only
2-125 Years
NHLBI
Cytokine
11-C-0220
Natural History Study of the KSHV Inflammatory Cytokine Syndrome (KICS) Incorporating Pilot Evaluation of KSHV Targeted Therapies
Participants currently recruited/enrolled
18-125 Years
NCI
Cytokine
10-I-0148
Natural History of Severe Allergic Inflammation and Reactions
Participants currently recruited/enrolled
2-80 Years
NIAID
Deficiency
10-CC-0149
Comparing Expectorated and Induced Sputum and Pharyngeal Swabs for Cultures, AFB Smears, and Cytokines in Pulmonary Nontuberculous Mycobacterial Infection
Completed Study; data analyses ongoing
18-80 Years
CC
Cytokine
10-C-0201
Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells from Patients with DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
Participants currently recruited/enrolled
18-40 Years
NCI
Deficiency
10-C-0174
Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 Deficiency
Participants currently recruited/enrolled
4-125 Years
NCI
Deficiency
09-I-0102
Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia
Participants currently recruited/enrolled
18-125 Years
NIAID
Cytokine
09-I-0086
Screening Protocol for Genetic Diseases of Allergic Inflammation
Participants currently recruited/enrolled
0-99 Years
NIAID
Deficiency
08-C-0130
A Phase II Trial of Peginterferon alfa-2b (PEG-Intron) for Neurofibromatosis Type 1 Related Unresectable, Symptomatic or Life-Threatening Plexiform Neurofibromas
Completed Study; data analyses ongoing
0-21 Years
NCI
Cytokine
07-I-0033
Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
Participants currently recruited/enrolled
0-125 Years
NIAID
Deficiency
06-I-0015
Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Participants currently recruited/enrolled
0-125 Years
NIAID
Deficiency
06-CH-0011
Natural History Study of Patients with Excess Androgen
Participants currently recruited/enrolled
0-99 Years
NICHD
Deficiency
05-I-0213
Screening and Baseline Assessment of Patients with Abnormalities of Immune Function
Participants currently recruited/enrolled
0-125 Years
NIAID
Deficiency
03-H-0105
The Determination of Genetic Basis Of Immunodeficiency
Participants currently recruited/enrolled
0-125 Years
NHLBI
Cytokine
02-DK-0022
Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy
Completed Study; data analyses ongoing
1-125 Years
NIDDK
Deficiency
00-I-0159
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
Participants currently recruited/enrolled
0-125 Years
NIAID
Deficiency
00-HG-0209
Molecular and Clinical Studies of Primary Immunodeficiency Diseases
No longer recruiting/follow-up only
3-125 Years
NHGRI
Deficiency
00-H-0051
Cutaneous Tumorigenesis in Patients with Tuberous Sclerosis
Participants currently recruited/enrolled
18-90 Years
NHLBI
Cytokine
00-CH-0136
A Trial of Pamidronate in Children with Osteogenesis Imperfecta
Completed Study; data analyses ongoing
2-17 Years
NICHD
Deficiency
95-HG-0193
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
Participants currently recruited/enrolled
0-125 Years
NHGRI
Deficiency
92-CH-0034
Studies of Growth Deficiency and Growth Hormone Treatment in Children with Osteogenesis Imperfecta Types III and IV
Completed Study; data analyses ongoing
3-16 Years
NICHD
Deficiency
91-I-0140
Studies of the Pathogenesis of HIV Infection in Human Peripheral Blood Cells and/or Body Fluids in HIV-Infected and HIV-Uninfected Volunteers
Participants currently recruited/enrolled
18-125 Years
NIAID
Cytokine
89-I-0158
Studies of Immune Regulation in Patients with Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes
Participants currently recruited/enrolled
2-125 Years
NIAID
Deficiency
76-HG-0238
Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders
Participants currently recruited/enrolled
0-125 Years
NHGRI
Deficiency