NIH Clinical Center: Search the Studies

Search the Studies

54 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
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	Autosomal Dominant Congenital
001521-D	CALIBRATE: A Phase 3, Randomized, Open-Label Study Evaluating the Efficacy and Safety of Encaleret Compared to Standard of Care in Participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1)	Participants currently recruited/enrolled	16-99 Years	NIDCR	Autosomal Dominant
000696-C	A Phase III, Multicenter, International Study with a Parallel, Randomized, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants with NF1 who have Symptomatic, Inoperable Plexiform Neurofibr	No longer recruiting/follow-up only	18-120 Years	NCI	Autosomal Dominant
000413-H	Natural History study of CADASIL	Participants currently recruited/enrolled	18-100 Years	NHLBI	Autosomal Dominant
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	Congenital Neutropenia
20-DC-0047	Natural History of Autosomal Dominant Hearing Loss	Participants currently recruited/enrolled	3-99 Years	NIDCD	Autosomal Dominant
20-D-0122	A Phase IIb, Open-label Dose-ranging Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics, and Efficacy of CLTX-305 (encaleret) in Autosomal Dominant Hypocalcemia Type 1 (ADH1)	Completed Study; data analyses ongoing	16-100 Years	NIDCR	Autosomal Dominant
16-H-0132	CADASIL Disease Discovery	Completed Study; data analyses ongoing	18-100 Years	NHLBI	Autosomal Dominant
02-C-0052	Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study	Participants currently recruited/enrolled	0-100 Years	NCI	Congenital Neutropenia
00-I-0159	Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)	Participants currently recruited/enrolled	0-120 Years	NIAID	Autosomal Dominant
001737-NR	A Single-Center Prospective Natural History Study of RYR1-Related Disorders	Recruitment has not started	7-100 Years	NINR	Congenital
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	Congenital
001562-I	A Phase I/II, Non-Randomized, Open-Label Study of pCCLCHIM-p47 (Lentiviral Vector Transduced CD34+ Cells) in Patients with p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)	Enrolling by Invitation	3-65 Years	NIAID	Autosomal
000740-CH	A 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 Hyperplasia	Enrolling by Invitation	18-99 Years	NICHD	Congenital
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	Autosomal
000520-C	Phase I/II Evaluation of a Cancer Lysate Vaccine and Montanide(R) ISA-51 VG with or without the IL-15 Super-Agonist N-803 as Adjuvant Therapy for PD-L1 Negative Non-Small Cell Lung Cancer	Clinical hold/Recruitment or enrollment suspended	18-125 Years	NCI	Autosomal
000494-DK	Natural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity Assessment	Participants currently recruited/enrolled	18-100 Years	NIDDK	Congenital
000411-CC	A Feasibility Pilot Study of a Virtual Education-Based Transition Intervention to Improve Transition Readiness in Adolescent and Young Adults with Congenital Adrenal Hyperplasia.	Participants currently recruited/enrolled	16-22 Years	CC	Congenital
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	Participants currently recruited/enrolled	18-99 Years	NICHD	Congenital
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	No longer recruiting/follow-up only	18-99 Years	NICHD	Congenital
20-CH-0126	Data Collection Study of Pediatric and Adolescent Gynecology Conditions	Participants currently recruited/enrolled	0-100 Years	NICHD	Congenital
20-C-0070	A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients with Inborn Errors of Immunity	Participants currently recruited/enrolled	4-69 Years	NCI	Congenital
19-N-0036	Exploring the Relationship Between Brain Asymmetry and Attention	Completed Study; data analyses ongoing	18-35 Years	NINDS	Dominant
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	Congenital
19-C-0085	Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Peripheral T cell Lymphoma	Participants currently recruited/enrolled	12-120 Years	NCI	Congenital
19-C-0033	Phase II Study of Nivolumab (anti-PD1), Tadalafil and Oral Vancomycin in Patients with Refractory Primary Hepatocellular Carcinoma or Liver Dominant Metastatic Cancer from Colorectal or Pancreatic Cancers	Completed Study; data analyses ongoing	18-125 Years	NCI	Dominant
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	Autosomal
18-HG-0064	A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)	Completed Study; data analyses ongoing	1-110 Years	NHGRI	Autosomal
18-H-0118	Technical and Translational Development of Cardiovascular MRI (CMR)	Participants currently recruited/enrolled	7-100 Years	NHLBI	Congenital
18-C-0135	Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation	Participants currently recruited/enrolled	4-125 Years	NCI	Congenital
17-H-0095	Heart Catheterization Using Magnetic Resonance Imaging (MRI) Fluoroscopy and Passive Guidewires	Participants currently recruited/enrolled	18-125 Years	NHLBI	Congenital
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	Congenital
16-C-0003	Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies	Participants currently recruited/enrolled	4-75 Years	NCI	Congenital
15-H-0155	Hereditary Parkinson Disease Natural History Protocol	Completed Study; data analyses ongoing	18-80 Years	NHLBI	Autosomal
15-DK-0108	Natural History of Noncirrhotic Portal Hypertension	Participants currently recruited/enrolled	12-100 Years	NIDDK	Congenital
14-HG-0071	Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation	Participants currently recruited/enrolled	1-80 Years	NHGRI	Congenital
14-HG-0055	Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders	Completed Study; data analyses ongoing	2-80 Years	NHGRI	Congenital
14-EI-0064	Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions	Participants currently recruited/enrolled	0-120 Years	NEI	Congenital
13-H-0133	Extended Dosing with Eltrombopag in Refractory Severe Aplastic Anemia	Completed Study; data analyses ongoing	2-99 Years	NHLBI	Neutropenia
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	2-99 Years	NHLBI	Neutropenia
10-HG-0065	Genome Medical Sequencing for Gene Discovery	Participants currently recruited/enrolled	0-99 Years	NHGRI	Congenital
09-I-0200	A Phase I Study of MozobilTM in the Treatment of Patients with WHIMS	Participants currently recruited/enrolled	18-75 Years	NIAID	Neutropenia
09-H-0225	Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-Thalassemia	No longer recruiting/follow-up only	2-100 Years	NHLBI	Congenital
08-H-0046	Co-Infusion of Umbilical Cord Blood and Haploidentical CD34+ Cells Following Nonmyeloablative Conditioning as Treatment for Severe Aplastic Anemia and MDS Associated with Severe Neutropenia Refractory to Immunosuppressive Therapy	Completed Study; data analyses ongoing	4-75 Years	NHLBI	Neutropenia
06-H-0190	Treatment of T-Large Granular Lymphocyte (T-LGL) Lymphoproliferative Disorders with Alemtuzumab (Campath)	Completed Study; data analyses ongoing	18-85 Years	NHLBI	Neutropenia
06-CH-0011	Natural History Study of Patients with Excess Androgen	Participants currently recruited/enrolled	0-99 Years	NICHD	Congenital
03-H-0170	Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease (SCD) and B-Thalassemia	No longer recruiting/follow-up only	2-80 Years	NHLBI	Congenital
02-CH-0311	Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders	Participants currently recruited/enrolled	0-125 Years	NICHD	Dominant
00-HG-0153	Investigations into Chediak-Higashi Syndrome and Related Disorders	Participants currently recruited/enrolled	0-70 Years	NHGRI	Autosomal
98-CH-0081	Clinical and Basic Investigations into Smith-Lemli-Opitz Syndrome	Completed Study; data analyses ongoing	0-125 Years	NICHD	Autosomal
97-H-0041	Screening Protocol for Subjects Being Evaluated for National Heart, Lung and Blood Institute (NHLBI) Protocols	Enrolling by Invitation	2-100 Years	NHLBI	Neutropenia
96-CH-0033	An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children with Congenital Adrenal Hyperplasia	Completed Study; data analyses ongoing	2-18 Years	NICHD	Congenital
94-HG-0132	The Phenotype and Etiology of Proteus Syndrome	Participants currently recruited/enrolled	0-99 Years	NHGRI	Congenital
89-M-0006	Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers	Participants currently recruited/enrolled	3-125 Years	NIMH	Congenital