NIH Clinical Center: Search the Studies

Search the Studies

85 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
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	Familial Deficiency
06-CH-0011	Natural History Study of Patients with Excess Androgen	Participants currently recruited/enrolled	0-99 Years	NICHD	Familial Deficiency
05-CH-0013	Adrenal Function in Critical Illness	Completed Study; data analyses ongoing	15-80 Years	NICHD	Glucocorticoid Deficiency
001074-CH	Characterization of Dysmorphology in Subjects with Creatine Transporter Deficiency	Participants currently recruited/enrolled	2-40 Years	NICHD	Deficiency
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
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	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
000665-DK	A Randomized Double-Blind Placebo-Controlled Study of the LEPR Agonist Antibody REGN4461 for the Treatment of Metabolic Abnormalities in Patients with Familial Partial Lipodystrophy	Participants currently recruited/enrolled	18-125 Years	NIDDK	Familial
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
000310-CH	A 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 started	18-125 Years	NICHD	Glucocorticoid
000297-CH	A 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 Treatment	Participants currently recruited/enrolled	18-125 Years	NICHD	Glucocorticoid
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
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-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-C-0106	Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients with BAP1 Tumor Predisposition Syndrome	Participants currently recruited/enrolled	30-125 Years	NCI	Familial
20-AR-0032	Genomic Effects of Glucocorticoids in Patients with Systemic Lupus Erythematosus	No longer recruiting/follow-up only	18-80 Years	NIAMS	Glucocorticoid
19-I-0108	Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients with Chronic Granulomatous Disease	Enrolling by Invitation	8-65 Years	NIAID	Glucocorticoid
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-HG-0059	Longitudinal Studies of Patients with FPDMM	Participants currently recruited/enrolled	0-125 Years	NHGRI	Familial
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
19-C-0136	A Phase 2, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of KD025 in Subjects with Chronic Graft Versus Host Disease (CGVHD) After at Least 2 Prior Lines of Systemic Therapy	Completed Study; data analyses ongoing	18-125 Years	NCI	Glucocorticoid
19-C-0016	Natural History and Biospecimen Acquisition Study for Children and Adults with Rare Solid Tumors	Participants currently recruited/enrolled	0-125 Years	NCI	Familial
18-I-0041	Investigating the Mechanistic Biology of Primary Immunodeficiency Disorders	Participants currently recruited/enrolled	0-75 Years	NIAID	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	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-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-0087	Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma	Participants currently recruited/enrolled	18-125 Years	NCI	Familial
17-C-0043	Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer	Participants currently recruited/enrolled	2-125 Years	NCI	Familial
16-I-0126	Genomic Response of Human Immune and Non-Immune Cells to Glucocorticoids	Completed Study; data analyses ongoing	18-64 Years	NIAID	Glucocorticoid
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-CH-0164	A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort (Registered) in the Treatment of Congenital Adrenal Hyperplasia	Completed Study; data analyses ongoing	18-80 Years	NICHD	Glucocorticoid
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-CH-0028	Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients with Ectopic Cushing Syndrome	Participants currently recruited/enrolled	18-80 Years	NICHD	Glucocorticoid
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
14-C-0037	A Phase 2 Study of the MET Kinase Inhibitor INC280 in Papillary Renal Cell Cancer	Completed Study; data analyses ongoing	18-125 Years	NCI	Familial
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-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-CH-0078	Evaluation of Cortisol Resistance in Young Endurance-Trained and Elderly Men	Completed Study; data analyses ongoing	18-30 Years	NICHD	Glucocorticoid
10-I-0148	Natural History of Severe Allergic Inflammation and Reactions	Participants currently recruited/enrolled	2-80 Years	NIAID	Deficiency
10-DK-0102	Clinical and Genetic Studies in Familial Non-Medullary Thyroid Cancer	Participants currently recruited/enrolled	7-125 Years	NIDDK	Familial
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-0126	Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes	Participants currently recruited/enrolled	2-90 Years	NIAID	Familial
09-I-0086	Screening Protocol for Genetic Diseases of Allergic Inflammation	Participants currently recruited/enrolled	0-99 Years	NIAID	Deficiency
08-DK-0098	Natural History of Familial Carcinoid Tumor	Participants currently recruited/enrolled	18-125 Years	NIDDK	Familial
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
05-I-0213	Screening and Baseline Assessment of Patients with Abnormalities of Immune Function	Participants currently recruited/enrolled	0-125 Years	NIAID	Deficiency
04-I-0286	A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression	Participants currently recruited/enrolled	1-100 Years	NIAID	Familial
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	Deficiency
02-DK-0022	Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy	Completed Study; data analyses ongoing	1-125 Years	NIDDK	Deficiency
02-C-0212	Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer	Completed Study; data analyses ongoing	18-100 Years	NCI	Familial
02-C-0178	Multidisciplinary Etiologic Study of Familial Testicular Cancer	No longer recruiting/follow-up only	12-125 Years	NCI	Familial
02-C-0052	Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study	Participants currently recruited/enrolled	0-125 Years	NCI	Familial
01-N-0206	Phenotype/Genotype Correlations in Movement Disorders	Participants currently recruited/enrolled	2-125 Years	NINDS	Familial
01-M-0232	Positron Emission Tomography (PET) Scanning in Dopamine Disorders: Parkinson's Disease and Schizophrenia	Participants currently recruited/enrolled	18-90 Years	NIMH	Familial
01-D-0184	A Natural History Study of Bone and Mineral Disorders	Participants currently recruited/enrolled	0-125 Years	NIDCR	Familial
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	Familial
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
94-HG-0105	An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases	Participants currently recruited/enrolled	0-125 Years	NHGRI	Familial
93-I-0119	Detection and Characterization of Host Defense Defects	Participants currently recruited/enrolled	0-125 Years	NIAID	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
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
89-C-0086	Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders	Participants currently recruited/enrolled	2-125 Years	NCI	Familial
85-H-0105	Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia	Completed Study; data analyses ongoing	2-70 Years	NHLBI	Familial
78-C-0039	Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Cancer	No longer recruiting/follow-up only	0-125 Years	NCI	Familial
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