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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-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 Autosomal Dominant Congenital
001521-DCALIBRATE: 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/enrolled16-99 YearsNIDCRAutosomal Dominant
000696-CA 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 NeurofibrParticipants currently recruited/enrolled18-120 YearsNCI Autosomal Dominant
000413-HNatural History study of CADASILParticipants currently recruited/enrolled18-100 YearsNHLBIAutosomal Dominant
000236-IA Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 DeficiencyParticipants currently recruited/enrolled18-85 YearsNIAIDCongenital Neutropenia
20-DC-0047Natural History of Autosomal Dominant Hearing LossParticipants currently recruited/enrolled3-99 YearsNIDCDAutosomal Dominant
20-D-0122A 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 ongoing16-100 YearsNIDCRAutosomal Dominant
16-H-0132CADASIL Disease DiscoveryCompleted Study; data analyses ongoing18-100 YearsNHLBIAutosomal Dominant
02-C-0052Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History StudyParticipants currently recruited/enrolled0-125 YearsNCI Congenital Neutropenia
00-I-0159Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)Participants currently recruited/enrolled0-120 YearsNIAIDAutosomal Dominant
001737-NRA Single-Center Prospective Natural History Study of RYR1-Related DisordersRecruitment has not started7-100 YearsNINR Congenital
001625-HGProspective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersParticipants currently recruited/enrolled0-100 YearsNHGRICongenital
001562-IA 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 Invitation3-65 YearsNIAIDAutosomal
000740-CHA 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 HyperplasiaEnrolling by Invitation18-99 YearsNICHDCongenital
000686-CHIntrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1Participants currently recruited/enrolled18-125 YearsNICHDAutosomal
000520-CPhase 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 CancerParticipants currently recruited/enrolled18-125 YearsNCI Autosomal
000494-DKNatural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity AssessmentParticipants currently recruited/enrolled18-100 YearsNIDDKCongenital
000411-CCA 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/enrolled16-22 YearsCC Congenital
000310-CHA 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/enrolled18-99 YearsNICHDCongenital
000297-CHA 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 TreatmentNo longer recruiting/follow-up only18-99 YearsNICHDCongenital
20-CH-0126Data Collection Study of Pediatric and Adolescent Gynecology ConditionsParticipants currently recruited/enrolled0-125 YearsNICHDCongenital
20-C-0070A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients with Inborn Errors of ImmunityParticipants currently recruited/enrolled4-69 YearsNCI Congenital
19-N-0036Exploring the Relationship Between Brain Asymmetry and AttentionCompleted Study; data analyses ongoing18-35 YearsNINDSDominant
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 DeficiencyParticipants currently recruited/enrolled2-9 YearsNICHDCongenital
19-C-0085Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Peripheral T cell LymphomaParticipants currently recruited/enrolled12-120 YearsNCI Congenital
19-C-0033Phase 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 CancersCompleted Study; data analyses ongoing18-125 YearsNCI Dominant
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 YearsNIAIDAutosomal
18-HG-0064A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)Completed Study; data analyses ongoing1-110 YearsNHGRIAutosomal
18-H-0118Technical and Translational Development of Cardiovascular MRI (CMR)Participants currently recruited/enrolled7-100 YearsNHLBICongenital
18-C-0135Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or DysregulationParticipants currently recruited/enrolled4-125 YearsNCI Congenital
17-H-0095Heart Catheterization Using Magnetic Resonance Imaging (MRI) Fluoroscopy and Passive GuidewiresParticipants currently recruited/enrolled18-125 YearsNHLBICongenital
16-CH-0164A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort (Registered) in the Treatment of Congenital Adrenal HyperplasiaCompleted Study; data analyses ongoing18-80 YearsNICHDCongenital
16-C-0003Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary ImmunodeficienciesParticipants currently recruited/enrolled4-75 YearsNCI Congenital
15-H-0155Hereditary Parkinson Disease Natural History ProtocolCompleted Study; data analyses ongoing18-80 YearsNHLBIAutosomal
15-DK-0108Natural History of Noncirrhotic Portal HypertensionParticipants currently recruited/enrolled12-100 YearsNIDDKCongenital
14-HG-0071Clinical and Basic Investigations into Known and Suspected Congenital Disorders of GlycosylationParticipants currently recruited/enrolled1-80 YearsNHGRICongenital
14-HG-0055Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersCompleted Study; data analyses ongoing2-80 YearsNHGRICongenital
14-EI-0064Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsParticipants currently recruited/enrolled0-120 YearsNEI Congenital
13-H-0133Extended Dosing with Eltrombopag in Refractory Severe Aplastic AnemiaCompleted Study; data analyses ongoing2-99 YearsNHLBINeutropenia
11-H-0134A Pilot Study of a Thrombopoietin-Receptor Agonist (TPO-R Agonist), Eltrombopag, in Moderate Aplastic Anemia PatientsNo longer recruiting/follow-up only2-99 YearsNHLBINeutropenia
10-HG-0065Whole Genome Medical Sequencing for Gene DiscoveryParticipants currently recruited/enrolled0-99 YearsNHGRICongenital
09-I-0200A Phase I Study of MozobilTM in the Treatment of Patients with WHIMSParticipants currently recruited/enrolled18-75 YearsNIAIDNeutropenia
09-H-0225Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-ThalassemiaNo longer recruiting/follow-up only2-100 YearsNHLBICongenital
08-H-0046Co-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 TherapyCompleted Study; data analyses ongoing4-75 YearsNHLBINeutropenia
06-H-0190Treatment of T-Large Granular Lymphocyte (T-LGL) Lymphoproliferative Disorders with Alemtuzumab (Campath)Completed Study; data analyses ongoing18-85 YearsNHLBINeutropenia
06-CH-0011Natural History Study of Patients with Excess AndrogenParticipants currently recruited/enrolled0-99 YearsNICHDCongenital
03-H-0170Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease (SCD) and B-ThalassemiaNo longer recruiting/follow-up only2-80 YearsNHLBICongenital
02-CH-0311Investigations into Inborn Errors of Cholesterol Synthesis and Related DisordersParticipants currently recruited/enrolled0-125 YearsNICHDDominant
00-HG-0153Investigations into Chediak-Higashi Syndrome and Related DisordersParticipants currently recruited/enrolled0-70 YearsNHGRIAutosomal
98-CH-0081Clinical and Basic Investigations into Smith-Lemli-Opitz SyndromeCompleted Study; data analyses ongoing0-125 YearsNICHDAutosomal
97-H-0041Screening Protocol for Subjects Being Evaluated for National Heart, Lung and Blood Institute (NHLBI) ProtocolsEnrolling by Invitation2-100 YearsNHLBINeutropenia
96-CH-0033An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children with Congenital Adrenal HyperplasiaNo longer recruiting/follow-up only2-18 YearsNICHDCongenital
94-HG-0132The Phenotype and Etiology of Proteus SyndromeParticipants currently recruited/enrolled0-99 YearsNHGRICongenital
89-M-0006Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy VolunteersParticipants currently recruited/enrolled3-125 YearsNIMH Congenital