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182 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
001109-CDefining the Natural History of Squamous Cell Carcinoma in Fanconi AnemiaParticipants currently recruited/enrolled8-125 YearsNCI Syndrome
001061-HObservational Study Investigating the Mechanistic Effects of Mitapivat in Subjects with Sickle Cell DiseaseEnrolling by Invitation16-125 YearsNHLBISyndrome
001058-DKA Phase 1b/2a Open-label Multiple-ascending Dose Exploratory Study of CRN04894 in ACTH-dependent Cushing's Syndrome (Cushing's Disease or Ectopic ACTH Syndrome)Recruitment has not started18-75 YearsNIDDKSyndrome
001043-IEvaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil DisordersRecruitment has not started0-125 YearsNIAIDSyndrome
000975-CCollection of Blood, Bone Marrow, Skin, Saliva, and Stool Samples from Healthy Volunteers Used for Comparative Analysis of Myeloid MalignanciesParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
000942-MA Cognitive Test Battery for Intellectual DisabilitiesParticipants currently recruited/enrolled4-125 YearsNIMH Syndrome
000908-DKPeripheral Blood and Urine Immune Cell Phenotyping in Membranous Nephropathy using FACS and Single Cell RNA-seqParticipants currently recruited/enrolled18-125 YearsNIDDKSyndrome
000862-CHPilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined with Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical ControlsParticipants currently recruited/enrolled0-125 YearsNICHDSyndrome
000821-IAn Open-Label, Single-Arm, Phase 1/2 Dose-Escalation Trial of Long-Acting Recombinant Human IL-7 (NT-I7, Efineptakin Alfa) for Idiopathic CD4 LymphopeniaRecruitment has not started18-75 YearsNIAIDSyndrome
000798-DA Phase 2 Study of Burosumab for Fibroblast Growth Factor-23 Mediated Hypophosphatemia in Fibrous DysplasiaParticipants currently recruited/enrolled1-125 YearsNIDCRSyndrome
000780-DA Phase 2 Study of Denosumab for Prevention of Skeletal Disease Progression in Children with Fibrous DysplasiaParticipants currently recruited/enrolled4-14 YearsNIDCRSyndrome
000756-DKPhase II Study of Growth Hormone Inhibition Using Pegvisomant In Severe Insulin ResistanceParticipants currently recruited/enrolled18-65 YearsNIDDKSyndrome
000661-CComprehensive Molecular and Clinical Evaluation of Pediatric and Adult Myelodysplastic Syndromes (MDS)Participants currently recruited/enrolled0-125 YearsNCI Syndrome
000547-HGObservational Study of Advanced Data Analytics in Genetic ConditionsRecruitment has not started0-125 YearsNHGRISyndrome
000489-CPhase I/II Study Using Prophylactic Donor Lymphocyte Infusion Early Post-Transplant After Allogeneic Hematopoietic Cell Transplantation Using Post-Transplantation Cyclophosphamide for High-Risk Hematologic MalignanciesClinical hold/Recruitment or enrollment suspended12-125 YearsNCI Syndrome
000487-CHNatural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol MetabolismParticipants currently recruited/enrolled0-125 YearsNICHDSyndrome
000404-CA Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) SyndromeParticipants currently recruited/enrolled18-75 YearsNCI Syndrome
000387-HThe Natural History of Acquired and Inherited Bone Marrow Failure Syndromes.Participants currently recruited/enrolled2-125 YearsNHLBISyndrome
000356-CA Phase I/II Trial of BMS-986253 in Myelodysplastic SyndromesParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
000344-DKNatural History Study of Parathyroid DisordersParticipants currently recruited/enrolled0-125 YearsNIDDKSyndrome
000343-HDetection of T cell Somatic Mutations in Bone Marrow Failure Using Whole Exome or Targeted SequencingEnrolling by Invitation18-125 YearsNHLBISyndrome
000226-IEfficacy of Belimumab and Rituximab Compared to Rituximab Alone for the Treatment of Primary Membranous NephropathyParticipants currently recruited/enrolled18-75 YearsNIAIDSyndrome
000141-DCDeep Phenotyping of Hearing Instability Disorders: Cohort Establishment, Biomarker Identification, Development of Novel Phenotyping Measures, and Discovery of Therapeutic TargetsParticipants currently recruited/enrolled18-80 YearsNIDCDSyndrome
000137-CHImplications of Maternal 45,X Mosaicism As A Secondary Genomic Finding Following Cell-free DNA Sequencing During Pregnancy: A Deep Phenotype StudyRecruitment has not started18-99 YearsNICHDSyndrome
000134-IA Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Trial of Intravenous Zotatifin in Adults with Mild or Moderate Coronavirus Disease 2019 (COVID-19)Participants currently recruited/enrolled18-125 YearsNIAIDSyndrome
000106-CHGonadal Tissue Freezing for Fertility Preservation in Individuals at risk for Ovarian Dysfunction and Premature Ovarian InsufficiencyParticipants currently recruited/enrolled4-21 YearsNICHDSyndrome
20-NR-0003A Proof-of-Concept Trial on the Effect of Ketamine on FatigueParticipants currently recruited/enrolled18-70 YearsNINR Syndrome
20-N-0064An observational study to assess clinical manifestations and biomarkers in amyotrophic lateral sclerosis type 4 and other inherited neurological disorders of RNA processing.Participants currently recruited/enrolled5-125 YearsNINDSSyndrome
20-M-0166Electrophysiologic Sleep Phenotyping and Sleep-Dependent Neuro-maturation in Clinical and Healthy Pediatric PopulationsParticipants currently recruited/enrolled0-8 YearsNIMH Syndrome
20-M-0159Role of GABAergic Transmission in Auditory Processing in Autism Spectrum DisorderParticipants currently recruited/enrolled14-25 YearsNIMH Syndrome
20-M-0082Phase 1 Study: PET Imaging of Cyclooxygenases in Neurodegenerative Brain DiseaseParticipants currently recruited/enrolled18-99 YearsNIMH Syndrome
20-I-0132A Multicentre, Randomised, Double-blind, Parallel-group, Placebo-controlled, 24-week Phase 3 Study with an Open-label Extension to Evaluate the Efficacy and Safety of Benralizumab in Patients with Hypereosinophilic Syndrome (HES)Participants currently recruited/enrolled12-130 YearsNIAIDSyndrome
20-I-0117Surveillance of Individuals Following SARS-CoV-2 infectionCompleted Study; data analyses ongoing18-125 YearsNIAIDSyndrome
20-I-0111COVID-19-associated Lymphopenia Pathogenesis Study in BloodParticipants currently recruited/enrolled18-125 YearsNIAIDSyndrome
20-I-0002Pilot Study of Mepolizumab in Episodic Angioedema with EosinophiliaCompleted Study; data analyses ongoing18-125 YearsNIAIDSyndrome
20-HG-0034A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus SyndromeParticipants currently recruited/enrolled3-125 YearsNHGRISyndrome
20-DK-0168LYNC-LD Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and their Complications.Participants currently recruited/enrolled3-125 YearsNIDDKSyndrome
20-D-0131Safety of Tofacitinib, an Oral Janus Kinase Inhibitor, in Primary Sj(SqrRoot)(Delta)gren's Syndrome; a Phase Ib-IIa Placebo-controlled Clinical Trial and Associated Mechanistic StudiesParticipants currently recruited/enrolled18-75 YearsNIDCRSyndrome
20-CH-0165Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals with Androgen InsensitivityParticipants currently recruited/enrolled0-99 YearsNICHDSyndrome
20-C-0107Clinical, Genetic, and Epidemiologic Study of Children and Adults with RASopathiesParticipants currently recruited/enrolled0-125 YearsNCI Syndrome
20-C-0106Prospective 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 SyndromeParticipants currently recruited/enrolled30-125 YearsNCI Syndrome
20-C-0062A phase 1b Study of Nivolumab in Patients with Autoimmune Disorders and Advanced Malignancies (AIM-NIVO)Participants currently recruited/enrolled18-125 YearsNCI Syndrome
20-C-0011Phase 1 Study of Recombinant Human IL-15 (rhIL-15) and Mogamulizumab for Patients with Refractory or Relapsed Adult T-Cell Leukemia and Mycosis Fungoides/Sezary SyndromeCompleted Study; data analyses ongoing18-125 YearsNCI Syndrome
20-AG-0087Ketone ester effects on biomarkers of brain metabolism and cognitive performance in cognitively intact adults (Bullet) 55 years old. A double-blinded randomized controlled clinical trialParticipants currently recruited/enrolled55-125 YearsNIA Syndrome
19-NR-0098Patient-Centered Assessment of Symptoms and OutcomesParticipants currently recruited/enrolled18-125 YearsNINR Syndrome
19-M-0054Mapping the Phenotype in Adults with Phelan-McDermid SyndromeCompleted Study; data analyses ongoing0-125 YearsNIMH Syndrome
19-I-0133Paradoxical Tuberculosis Reactions in Patients without HIV InfectionParticipants currently recruited/enrolled18-125 YearsNIAIDSyndrome
19-I-0084Skin Immunity Sample Collection Involving Blisters and BiopsiesRecruitment has not started7-65 YearsNIAIDSyndrome
19-H-0139Investigation of the Natural Progression of Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenia of Undetermined Significance.Participants currently recruited/enrolled18-125 YearsNHLBISyndrome
19-H-0034Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni SyndromeCompleted Study; data analyses ongoing18-70 YearsNHLBISyndrome
19-CH-0051Long-Term Follow-UP of Survivors of Pediatric Cushing DiseaseParticipants currently recruited/enrolled2-90 YearsNICHDSyndrome
19-CH-0026Randomized, Double-Blind, Placebo-Controlled Study Plus Open Label Extension with a Double-Blind, Placebo-Controlled, Randomized Withdrawal Period of Diazoxide Choline Extended-Release Tablets (DCCR, Soleno Therapeutics, Inc.) in Participants with PraderNo longer recruiting/follow-up only4-125 YearsNICHDSyndrome
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 DeficiencyRecruitment has not started2-9 YearsNICHDSyndrome
19-C-0135Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine TumorsParticipants currently recruited/enrolled12-125 YearsNCI Syndrome
19-C-0076A Phase 1 Study of Interleukin-15 in Combination with Avelumab (Bavencio) in Relapsed/Refractory Mature T-cell MalignanciesCompleted Study; data analyses ongoing18-125 YearsNCI Syndrome
19-C-0040Natural History Study of Men at High Genetic Risk for Prostate CancerParticipants currently recruited/enrolled30-75 YearsNCI Syndrome
19-C-0016Natural History and Biospecimen Acquisition Study for Children and Adults with Rare Solid TumorsParticipants currently recruited/enrolled0-125 YearsNCI Syndrome
18-H-0090Haplo-identical Transplantation for Severe Aplastic Anemia, Hypo-plastic MDS and PNH using Peripheral Blood Stem Cells and post-transplant Cyclophosphamide for GVHD prophylaxisParticipants currently recruited/enrolled4-75 YearsNHLBISyndrome
18-AR-0081Investigation of the Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease and Related Inflammatory ConditionsParticipants currently recruited/enrolled0-125 YearsNIAMSSyndrome
17-N-0131Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal DementiaParticipants currently recruited/enrolled18-125 YearsNINDSSyndrome
17-N-0035Clinical and Physiological Studies of Tremor SyndromesCompleted Study; data analyses ongoing18-125 YearsNINDSSyndrome
17-H-0091Unrelated Umbilical Cord Blood Transplantation for Severe Aplastic Anemia and Hypo-plastic MDS using CordIn, Umbilical Cord Blood-Derived Ex Vivo Expanded Stem and Progenitor Cells, to Expedite Engraftment and Improve Transplant OutcomeParticipants currently recruited/enrolled4-75 YearsNHLBISyndrome
17-DK-0054The Physiological Responses and Adaptation of Brown Adipose Tissue to Chronic Treatment with Beta3-Adrenergic Receptor AgonistsParticipants currently recruited/enrolled18-40 YearsNIDDKSyndrome
17-CH-0078Setmelanotide (RM-493; Rhythm Pharmaceuticals, Inc.) Phase 2 Open-Label Treatment Trials in Patients with Rare Genetic Disorders of ObesityNo longer recruiting/follow-up only6-100 YearsNICHDSyndrome
17-C-0087Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ ParagangliomaParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
17-C-0043Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric CancerParticipants currently recruited/enrolled2-125 YearsNCI Syndrome
16-N-0058Myalgic Encephalomyelitis/Chronic Fatigue SyndromeCompleted Study; data analyses ongoing18-60 YearsNINDSSyndrome
16-I-0165An open-label, non-randomized extension study to evaluate the long term safety, tolerability, efficacy and pharmacokinetics of CDZ173 (leniolisib) in patients with APDS/PASLI (Activated phosphoinositide 3-kinase delta syndrome/p110 delta-activating mutatNo longer recruiting/follow-up only12-75 YearsNIAIDSyndrome
16-H-0144Impact of Elastin Mediated Vascular Stiffness on End OrgansParticipants currently recruited/enrolled3-85 YearsNHLBISyndrome
16-H-0074Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue BankParticipants currently recruited/enrolled0-85 YearsNHLBISyndrome
16-H-0063Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study)Completed Study; data analyses ongoing1-70 YearsNHLBISyndrome
16-CH-0103Evaluation of Patients with Genetic DisordersParticipants currently recruited/enrolled0-125 YearsNICHDSyndrome
16-C-0060A Phase 1b/2 Study of alvelestat (MPH966), an Oral Neutrophil Elastase Inhibitor, in Bronchiolitis Obliterans Syndrome after Allogeneic Hematopoietic Stem Cell TransplantationParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
15-M-0139Mapping the Genotype, Phenotype, and Natural History of Phelan McDermid SyndromeParticipants currently recruited/enrolled1-125 YearsNIMH Syndrome
15-I-0162Natural History and Genetics of Food Allergy and Related ConditionsParticipants currently recruited/enrolled0-99 YearsNIAIDSyndrome
15-I-0135An open-label, non-randomized, within-patient dose-finding study followed by a randomized, subject, investigator and sponsor-blinded placebo controlled study to assess the efficacy and safety of CDZ173 (leniolisib) in patients with APDS/PASLI (Activated Completed Study; data analyses ongoing12-75 YearsNIAIDSyndrome
15-I-0056Collection of Plasma from Subjects that Recovered From or Were Vaccinated To Emerging Infectious DiseasesEnrolling by Invitation18-70 YearsNIAIDSyndrome
15-DK-0174Dynamic Post-Prandial Metabolism in Patients with Non-Alcoholic Fatty Liver DiseaseCompleted Study; data analyses ongoing18-125 YearsNIDDKSyndrome
15-DK-0108Natural History of Noncirrhotic Portal HypertensionParticipants currently recruited/enrolled12-125 YearsNIDDKSyndrome
15-D-0051Characterization of Diseases with Salivary Gland InvolvementParticipants currently recruited/enrolled4-125 YearsNIDCRSyndrome
15-C-0157Phase I/II Trial of Vandetanib in Combination with Metformin in Subjects with HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell CarcinomaCompleted Study; data analyses ongoing18-125 YearsNCI Syndrome
15-C-0067A Phase I/II Open Label, Dose Escalation Study of Palifermin (Kepivance) in Persons Undergoing Unrelated Donor Allogeneic Hematopoietic Cell TransplantationParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
14-N-0086Deep Brain Stimulation Therapy in Movement DisordersParticipants currently recruited/enrolled18-125 YearsNINDSSyndrome
14-I-0185A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients with WHIM Syndrome.Completed Study; data analyses ongoing10-75 YearsNIAIDSyndrome
14-I-0124PET Imaging and Lymph Node Assessment of IRIS in Persons With AIDSParticipants currently recruited/enrolled18-125 YearsNIAIDSyndrome
14-I-0081A Phase 2a Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Benralizumab (MEDI-563) in Reducing Eosinophilia in Subjects with Hypereosinophilic Syndrome (HES)No longer recruiting/follow-up only18-75 YearsNIAIDSyndrome
14-I-0063An Open-Label, Proof-of-Concept Study to Evaluate the Safety and Efficacy of Dexpramipexole (KNS-760704) in Subjects with Hypereosinophilic SyndromeNo longer recruiting/follow-up only18-125 YearsNIAIDSyndrome
14-I-0020Hematopoietic Stem Cell Mobilization in Idiopathic CD4 Lymphocytopenia Patients and Healthy Controls for the Study of T Cell Maturation and Trafficking in Murine ModelsParticipants currently recruited/enrolled18-65 YearsNIAIDSyndrome
14-I-0009Characterization and Management of Patients with HIV-1 Infection Who Experience Virologic Failure Despite Combination Antiretroviral TherapyCompleted Study; data analyses ongoing18-100 YearsNIAIDSyndrome
14-HG-0055Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersCompleted Study; data analyses ongoing2-80 YearsNHGRISyndrome
14-CH-0028Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients with Ectopic Cushing SyndromeParticipants currently recruited/enrolled18-80 YearsNICHDSyndrome
14-C-0161Phase I Trial of the Combination of Bortezomib and Clofarabine in Adults with Refractory Solid Tumors, Lymphomas, or Myelodysplastic SyndromesParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
14-C-0156A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) In BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, and High Grade Serous Ovarian CancerCompleted Study; data analyses ongoing18-125 YearsNCI Syndrome
14-C-0004A Multicenter Phase 2 Study of the Bruton's Tyrosine Kinase Inhibitor PCI-32765 (Ibrutinib) for Treatment of Relapsed Hairy Cell LeukemiaNo longer recruiting/follow-up only18-125 YearsNCI Gilbert
13-N-0017Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)Participants currently recruited/enrolled2-125 YearsNINDSSyndrome
13-I-0157The Natural History of GATA2 Deficiency and Related DisordersParticipants currently recruited/enrolled2-100 YearsNIAIDSyndrome
13-HG-0199NIH Participation to USIDNET RegistryParticipants currently recruited/enrolled0-125 YearsNHGRISyndrome
13-H-0116A Multicenter Safety Study of Unlicensed, Investigational Cryopreserved Cord Blood Units (CBUs) Manufactured by the National Cord Blood Program (NCBP) and Provided for Unrelated Hematopoietic Stem Cell Transplantation of Pediatric and Adult PatientsParticipants currently recruited/enrolled4-125 YearsNHLBISyndrome
13-CC-0099Vasti Control of Patellofemoral Kinematics in Patients with Chronic Patellofemoral Pain.Participants currently recruited/enrolled18-55 YearsCC Syndrome
13-C-0132Allogeneic Hematopoietic Stem Cell Transplant for Patients with Mutations in GATA2 or the MonoMAC SyndromeParticipants currently recruited/enrolled8-70 YearsNCI Syndrome
12-HG-0181The Clinical Study of Patients with Sex Chromosome VariantsCompleted Study; data analyses ongoing18-125 YearsNHGRISyndrome
12-H-0064A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs) for Transplantation in Pediatric and Adult Patients with Hematologic Malignancies and Other IndicationsParticipants currently recruited/enrolled4-75 YearsNHLBISyndrome
12-EI-0042NEI Intramural Biorepository for Retinal DiseasesParticipants currently recruited/enrolled2-125 YearsNEI Syndrome
12-E-0050The Role of Gonadotropin Pulsations in the Regulation of Puberty and FertilityParticipants currently recruited/enrolled14-125 YearsNIEHSSyndrome
12-E-0049The Molecular Basis of Inherited Reproductive DisordersParticipants currently recruited/enrolled0-125 YearsNIEHSSyndrome
12-AR-8001Compassionate Use Treatment Protocol I4V-MC-JAGA; Treatment of Autoinflammatory Syndromes Expected to Benefit from JAK InhibitionCompleted Study; data analyses ongoing1-125 YearsNIAMSSyndrome
11-N-0084Evaluation and Diagnosis of Potential Research Subjects with Traumatic Brain Injury (TBI)Completed Study; data analyses ongoing18-125 YearsNINDSSyndrome
11-I-0187The Natural History and Pathogenesis of Human Fungal InfectionsParticipants currently recruited/enrolled0-99 YearsNIAIDSyndrome
11-E-0072Environmental Risk Factors for the Anti-Synthetase SyndromeParticipants currently recruited/enrolled2-100 YearsNIEHSSyndrome
11-D-0172The Pathogenesis and Natural History of Sjogren's SyndromeParticipants currently recruited/enrolled16-125 YearsNIDCRSyndrome
11-CC-0152The Natural History of Liver Disease in a Cohort of Participants with Hepatitis B and/or Hepatitis C with or without HIV InfectionCompleted Study; data analyses ongoing18-99 YearsCC Syndrome
11-C-0255Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni SyndromeParticipants currently recruited/enrolled0-125 YearsNCI Syndrome
11-C-0242Collection of Blood from Patients with Cancer, Other Tumors, or Tumor Predisposition Syndromes for Analysis of Genetic Differences in Drug DispositionParticipants currently recruited/enrolled3-125 YearsNCI Syndrome
11-C-0220Natural History Study of the KSHV Inflammatory Cytokine Syndrome (KICS) Incorporating Pilot Evaluation of KSHV Targeted TherapiesParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
11-C-0136Multi-Institutional Prospective Pilot Study of Lupron to Enhance Lymphocyte Immune Reconstitution Following Allogeneic Bone Marrow Transplantation in Post-Pubertal Children and Adults with Molecular Imaging EvaluationCompleted Study; data analyses ongoing2-55 YearsNCI Syndrome
11-C-0034DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History StudyParticipants currently recruited/enrolled0-125 YearsNCI Syndrome
10-N-0009Physiological Investigations of Movement DisordersCompleted Study; data analyses ongoing18-125 YearsNINDSSyndrome
10-M-0112Defining the Brain Phenotype of Children with Williams SyndromeParticipants currently recruited/enrolled5-125 YearsNIMH Syndrome
10-I-0197Admission and Management of Occupational or Other Exposures to Biodefense/Bioterrorism Agents or to Epidemic/Emerging Infectious DiseasesParticipants currently recruited/enrolled2-99 YearsNIAIDSyndrome
10-H-0154Allogeneic Hematopoietic Stem Cell Transplantation for Severe Aplastic Anemia and Other Bone Marrow Failure Syndromes Using G-CSF Mobilized CD34+ Selected Hematopoietic Precursor Cells Co-Infused with a Reduced Dose of Non-Mobilized Donor T-CellsParticipants currently recruited/enrolled4-80 YearsNHLBISyndrome
10-H-0126Cardiovascular Disease Discovery ProtocolParticipants currently recruited/enrolled1-100 YearsNHLBISyndrome
10-E-0129Study of the Effect of Innate Immunity on the Inflammatory Response to EndotoxinParticipants currently recruited/enrolled18-125 YearsNIEHSSyndrome
10-C-0066A Study of Hairy Cell and other Leukemias with a Focus on Recombinant Immunotoxins for Cancer TreatmentParticipants currently recruited/enrolled18-125 YearsNCI Syndrome
09-I-0200A Phase I Study of MozobilTM in the Treatment of Patients with WHIMSParticipants currently recruited/enrolled18-75 YearsNIAIDSyndrome
09-I-0184Studies in the Pathogenesis of Systemic Capillary Leak SyndromeParticipants currently recruited/enrolled0-125 YearsNIAIDSyndrome
09-I-0126Pathogenesis and Genetic Basis of Physical Induced Urticarial SyndromesParticipants currently recruited/enrolled2-90 YearsNIAIDSyndrome
09-I-0102Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ LymphocytopeniaParticipants currently recruited/enrolled18-125 YearsNIAIDSyndrome
09-H-0199A Pilot Study of a Thrombopoietin-Receptor Agonist (TPO-R agonist), Eltrombopag, in Patients with Low to Int-2 Risk Myelodysplastic Syndrome (MDS)Completed Study; data analyses ongoing18-125 YearsNHLBISyndrome
09-DK-0223Rituximab Plus Cyclosporine in Idiopathic Membranous NephropathyParticipants currently recruited/enrolled18-125 YearsNIDDKSyndrome
09-CC-0217Vasti Control of Patellofemoral Kinematics in Asymptomatic VolunteersCompleted Study; data analyses ongoing18-55 YearsCC Syndrome
08-HG-0059Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis PatientsParticipants currently recruited/enrolled2-125 YearsNHGRISyndrome
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 YearsNHLBISyndrome
08-DK-0138A New Method for Determining Gastric Acid Output Using a Wireless CapsuleCompleted Study; data analyses ongoing18-125 YearsNIDDKSyndrome
07-D-0016Effects of PTH Replacement on Bone in HypoparathyroidismCompleted Study; data analyses ongoing18-70 YearsNIDCRSyndrome
07-CH-0008Prospective, Open-Label, Multicenter, International Study of Mifepristone for Symptomatic Treatment of Cushing's Syndrome Caused by Ectopic Adrenal Corticotrophin Hormone (ACTH) SecretionCompleted Study; data analyses ongoing18-85 YearsNICHDSyndrome
07-C-0195Phase II Trial of Targeted Immune-Depleting Chemotherapy and Reduced-Intensity Allogeneic Hematopoietic Stem Cell Transplantation Using 8/8 and 7/8 HLA-matched Unrelated Donors and Utilizing Two Graft-versus-Host Disease Prophylaxis Regimens for the TreaCompleted Study; data analyses ongoing18-74 YearsNCI Syndrome
06-M-0214PET Measurement of Regional Rates of Cerebral Protein Synthesis in Subjects with Fragile X SyndromeCompleted Study; data analyses ongoing18-24 YearsNIMH Syndrome
06-I-0015Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell DeathParticipants currently recruited/enrolled0-125 YearsNIAIDSyndrome
06-C-0213Tissue Procurement Protocol for the Developmental Therapeutics Clinic, National Cancer Institute (NCI)Participants currently recruited/enrolled0-125 YearsNCI Syndrome
05-C-0152Variation in Gene Expression in Neurofibromatosis Type 1Completed Study; data analyses ongoing2-100 YearsNCI Syndrome
04-I-0286A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease ProgressionParticipants currently recruited/enrolled1-100 YearsNIAIDSyndrome
04-HG-0211Analysis of Specimens from Individuals with Pulmonary FibrosisParticipants currently recruited/enrolled18-125 YearsNHGRISyndrome
04-H-0161Studies of the Natural History of Sickle Cell DiseaseParticipants currently recruited/enrolled2-125 YearsNHLBISyndrome
04-C-0238A Phase 2 Study of 17-Allylamino-17-Demethoxygeldanamycin in Patients with Von Hippel Lindau Disease and Renal TumorsCompleted Study; data analyses ongoing18-125 YearsNCI Syndrome
04-C-0102Hematologic Malignancy Biology StudyEnrolling by Invitation1-75 YearsNCI Syndrome
03-M-0211Family Study of Affective and Anxiety Spectrum DisordersParticipants currently recruited/enrolled7-125 YearsNIMH Syndrome
03-CC-0060Virtual Function Anatomy (VFA)Participants currently recruited/enrolled5-95 YearsCC Syndrome
03-AR-0173Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile DermatomyositisParticipants currently recruited/enrolled2-125 YearsNIAMSSyndrome
02-I-0286Efficacy of Tyrosine Kinase Inhibition in Reducing Eosinophilia in Patients with Myeloid and/or Steroid-Refractory Hypereosinophilic SyndromeParticipants currently recruited/enrolled2-125 YearsNIAIDSyndrome
02-H-0250A Phase I/II Study of HLA-matched Mobilized Peripheral Blood Hematopoietic Stem Cell Transplantation for Advanced Mycosis Fungoides/Sezary Syndrome Using Nonmyeloablative Conditioning with Campath-1HCompleted Study; data analyses ongoing18-125 YearsNHLBISyndrome
02-CH-0311Investigations into Inborn Errors of Cholesterol Synthesis and Related DisordersParticipants currently recruited/enrolled0-125 YearsNICHDSyndrome
02-C-0212Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerCompleted Study; data analyses ongoing18-100 YearsNCI Syndrome
02-C-0211Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of MelanomaParticipants currently recruited/enrolled2-125 YearsNCI Syndrome
02-C-0159Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer, Cutaneous Fibrofolliculoma and Pulmonary CystsParticipants currently recruited/enrolled2-125 YearsNCI Syndrome
02-C-0052Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History StudyParticipants currently recruited/enrolled0-125 YearsNCI Syndrome
01-I-0202Natural History, Genetics, Phenotype, and Treatment of Mycobacterial InfectionsParticipants currently recruited/enrolled0-100 YearsNIAIDSyndrome
01-HG-0109Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)No longer recruiting/follow-up only0-125 YearsNHGRISyndrome
01-DC-0228Clinical and Molecular Analysis of Enlarged Vestibular AqueductsCompleted Study; data analyses ongoing0-99 YearsNIDCDSyndrome
00-I-0159Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)Participants currently recruited/enrolled0-125 YearsNIAIDSyndrome
00-HG-0209Molecular and Clinical Studies of Primary Immunodeficiency DiseasesNo longer recruiting/follow-up only3-125 YearsNHGRISyndrome
00-HG-0153Investigations into Chediak-Higashi Syndrome and Related DisordersParticipants currently recruited/enrolled0-70 YearsNHGRISyndrome
00-H-0051Cutaneous Tumorigenesis in Patients with Tuberous SclerosisParticipants currently recruited/enrolled18-90 YearsNHLBISyndrome
00-CH-0160Clinical and Molecular Analysis of ACTH-Independent Steroid Hormone Production in Adrenocortical TissueCompleted Study; data analyses ongoing3-70 YearsNICHDSyndrome
99-H-0050Non-Myeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Hematologic Malignancies in High Risk Patients and in Patients with Debilitating Hematologic DiseasesCompleted Study; data analyses ongoing2-80 YearsNHLBISyndrome
99-C-0099Examination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyParticipants currently recruited/enrolled0-125 YearsNCI Syndrome
98-D-0145Screening and Natural History of Patients with Polyostotic Fibrous Dysplasia and the McCune-Albright SyndromeParticipants currently recruited/enrolled0-100 YearsNIDCRSyndrome
98-CH-0081Clinical and Basic Investigations into Smith-Lemli-Opitz SyndromeCompleted Study; data analyses ongoing0-125 YearsNICHDSyndrome
97-HG-0192Genetic Studies in the Amish and MennonitesCompleted Study; data analyses ongoing18-125 YearsNHGRISyndrome
97-C-0147Collection of Serum and Tissue Samples from Patients with Biopsy-Proved or Suspected Malignant DiseasesParticipants currently recruited/enrolled2-125 YearsNCI Syndrome
96-I-0052A Comprehensive Clinical, Microbiological and Immunological Assessment of Patients with Suspected Post Treatment Lyme Disease Syndrome and Selected Control PopulationsParticipants currently recruited/enrolled13-125 YearsNIAIDSyndrome
95-HG-0193Clinical and Basic Investigations into Hermansky-Pudlak SyndromeParticipants currently recruited/enrolled0-125 YearsNHGRISyndrome
95-CH-0059Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related ConditionsCompleted Study; data analyses ongoing3-70 YearsNICHDSyndrome
94-HG-0132The Phenotype and Etiology of Proteus SyndromeParticipants currently recruited/enrolled0-125 YearsNHGRISyndrome
94-HG-0105An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory DiseasesParticipants currently recruited/enrolled0-125 YearsNHGRISyndrome
93-I-0086Evaluation and Long-Term Follow-Up of Patients with Acute or Chronic Inflammatory DisordersEnrolling by Invitation2-125 YearsNIAIDSyndrome
93-I-0063Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated with an Expansion of CD4-8-/TCR alpha/beta+ T CellsParticipants currently recruited/enrolled0-99 YearsNIAIDSyndrome
92-DK-0156Studies of Immunologically-Mediated Kidney DiseasesParticipants currently recruited/enrolled10-125 YearsNIDDKSyndrome
90-M-0088The Treatment of Menstrually-Related Mood Disorders with the Gonadotropin Releasing Hormone (GnRH) Agonist, Depot Leuprolide Acetate (Lupron)Completed Study; data analyses ongoing18-45 YearsNIMH Syndrome
90-DK-0137Evaluation of the Gastrinoma in Patients with Zollinger-Ellison SyndromeCompleted Study; data analyses ongoing18-100 YearsNIDDKSyndrome
89-M-0006Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy VolunteersParticipants currently recruited/enrolled3-125 YearsNIMH Syndrome
89-I-0158Studies of Immune Regulation in Patients with Common Variable Immunodeficiency and Related Humoral Immunodeficiency SyndromesParticipants currently recruited/enrolled2-125 YearsNIAIDSyndrome
81-M-0126The Evaluation of Women with Menstrually Regulated Mood and Behavioral DisordersParticipants currently recruited/enrolled18-50 YearsNIMH Syndrome