NIH Clinical Center: Search the Studies

Search the Studies

49 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
001678-AT	Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals with Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene	Recruitment has not started	18-100 Years	NCCIH	Deficiency
001625-HG	Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders	Participants currently recruited/enrolled	0-100 Years	NHGRI	Deficiency
001542-C	Phase Ib Study of Imatinib to Increase RUNX1 Activity in Participants with Germline RUNX1 Deficiency	Participants currently recruited/enrolled	18-120 Years	NCI	Deficiency
001531-C	A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplantation with JSP191-Based Conditioning in Participants with GATA2 Deficiency	Participants currently recruited/enrolled	6-70 Years	NCI	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	0-110 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-Alpha) 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
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	0-100 Years	NICHD	Deficiency
000476-E	The Investigation of Vitamin D and Menstrual Cycles Trial: A Phase II Clinical trial	No longer recruiting/follow-up only	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	Completed Study; data analyses ongoing	3-125 Years	NIAID	Deficiency
000344-DK	Natural History Study of Parathyroid Disorders	Participants currently recruited/enrolled	0-100 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	18-85 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
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	Participants currently recruited/enrolled	2-9 Years	NICHD	Deficiency
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-0020	Observational Study of Males with Creatine Transporter Deficiency (CTD)	Completed Study; data analyses ongoing	2-40 Years	NICHD	Deficiency
16-E-0157	CaREFREE Study (Calorie Restriction, Environment and Fitness: Reproductive Effects Evaluation Study)	Completed Study; data analyses ongoing	18-28 Years	NIEHS	Deficiency
15-DK-0108	Natural History of Noncirrhotic Portal Hypertension	Participants currently recruited/enrolled	12-100 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-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-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-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
10-I-0148	Natural History of Severe Allergic Inflammation and Reactions	No longer recruiting/follow-up only	2-80 Years	NIAID	Deficiency
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	4-120 Years	NCI	Deficiency
09-I-0086	Screening Protocol for Genetic Diseases of Allergic Inflammation	No longer recruiting/follow-up only	0-99 Years	NIAID	Deficiency
07-I-0033	Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility	Participants currently recruited/enrolled	0-100 Years	NIAID	Deficiency
06-I-0015	Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death	Participants currently recruited/enrolled	0-100 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
05-CH-0013	Adrenal Function in Critical Illness	Completed Study; data analyses ongoing	15-80 Years	NICHD	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	Deficiency
00-I-0159	Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)	Participants currently recruited/enrolled	0-120 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
95-HG-0193	Clinical and Basic Investigations into Hermansky-Pudlak Syndrome	Participants currently recruited/enrolled	0-125 Years	NHGRI	Deficiency
93-I-0119	Detection and Characterization of Host Defense Defects	Participants currently recruited/enrolled	0-100 Years	NIAID	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
76-HG-0238	Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders	Participants currently recruited/enrolled	0-115 Years	NHGRI	Deficiency