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53 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
001625-HGProspective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersParticipants currently recruited/enrolled0-100 YearsNHGRIDehydrogenase Deficiency
06-CH-0011Natural History Study of Patients with Excess AndrogenParticipants currently recruited/enrolled0-99 YearsNICHDDehydrogenase Deficiency
001715-CA Phase 2 Study to Evaluate the Efficacy and Safety of Belzutifan (MK-6482, formerly PT2977) Monotherapy in Participants with Advanced Pheochromocytoma/Paraganglioma (PPGL) or Pancreatic Neuroendocrine Tumor (pNET), von Hippel-Lindau (VHL) Disease-AssociRecruitment has not started12-120 YearsNCI Dehydrogenase
001678-ATMicroneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals with Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 GeneRecruitment has not started18-100 YearsNCCIHDeficiency
001542-CPhase Ib Study of Imatinib to Increase RUNX1 Activity in Participants with Germline RUNX1 DeficiencyParticipants currently recruited/enrolled18-120 YearsNCI Deficiency
001531-CA Phase II Study of Allogeneic Hematopoietic Stem Cell Transplantation with JSP191-Based Conditioning in Participants with GATA2 DeficiencyParticipants currently recruited/enrolled6-70 YearsNCI Deficiency
001074-CHCharacterization of Dysmorphology in Subjects with Creatine Transporter DeficiencyParticipants currently recruited/enrolled2-40 YearsNICHDDeficiency
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/enrolled0-110 YearsNICHDDeficiency
000860-CA Phase I/II Study of Zotiraciclib for Recurrent High-Grade Gliomas with Isocitrate Dehydrogenase 1 or 2 (IDH1 or IDH2) MutationsParticipants currently recruited/enrolled18-125 YearsNCI Dehydrogenase
000821-IAn Open-Label, Single-Arm, Phase 1/2 Dose-Escalation Trial of Long-Acting Recombinant Human IL-7 (NT-I7, Efineptakin-Alpha) for Idiopathic CD4 LymphopeniaRecruitment has not started18-75 YearsNIAIDDeficiency
000686-CHIntrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1Participants currently recruited/enrolled18-125 YearsNICHDDeficiency
000487-CHNatural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol MetabolismParticipants currently recruited/enrolled0-100 YearsNICHDDeficiency
000476-EThe Investigation of Vitamin D and Menstrual Cycles Trial: A Phase II Clinical trialNo longer recruiting/follow-up only19-40 YearsNIEHSDeficiency
000475-CPhase 2 Study of Rogaratinib (BAY 1163877) in the Treatment of Patients with Sarcoma Harboring Alterations in Fibroblast Growth Factor Receptor (FGFR) 1-4 and SDH-deficient Gastrointestinal Stromal Tumor (GIST)Participants currently recruited/enrolled18-125 YearsNCI Dehydrogenase
000392-IMetabolic Profiling of Immune Responses in Immune-Mediated DiseasesParticipants currently recruited/enrolled18-75 YearsNIAIDDeficiency
000384-IAnalysis of the Immune Response to COVID-19 Vaccination and Outcomes in Individuals With and Without Immune Deficiencies and DysregulationsCompleted Study; data analyses ongoing3-125 YearsNIAIDDeficiency
000344-DKNatural History Study of Parathyroid DisordersParticipants currently recruited/enrolled0-100 YearsNIDDKDeficiency
000272-HDefining the Genetic Etiology of Suppurative Lung Disease in Children and AdultsParticipants currently recruited/enrolled5-45 YearsNHLBIDeficiency
000236-IA Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 DeficiencyParticipants currently recruited/enrolled18-85 YearsNIAIDDeficiency
22-I-0001NADPH Oxidase Correction in mRNA transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)Participants currently recruited/enrolled18-75 YearsNIAIDDeficiency
21-I-0003A 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 SCIDParticipants currently recruited/enrolled3-125 YearsNIAIDDeficiency
20-I-0037Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning with h-ATG, Radiation, and SirolimusEnrolling by Invitation3-40 YearsNIAIDDeficiency
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 YearsNICHDDeficiency
18-I-0041Investigating the Mechanistic Biology of Primary Immunodeficiency DisordersParticipants currently recruited/enrolled0-75 YearsNIAIDDeficiency
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 YearsNIAIDDeficiency
18-H-0146Genotype -Phenotype Correlation of PKLR Variants with Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients with Sickle Cell DiseaseParticipants currently recruited/enrolled18-80 YearsNHLBIDeficiency
17-CH-0020Observational Study of Males with Creatine Transporter Deficiency (CTD)No longer recruiting/follow-up only2-40 YearsNICHDDeficiency
16-E-0157CaREFREE Study (Calorie Restriction, Environment and Fitness: Reproductive Effects Evaluation Study)Completed Study; data analyses ongoing18-28 YearsNIEHSDeficiency
15-DK-0108Natural History of Noncirrhotic Portal HypertensionParticipants currently recruited/enrolled12-100 YearsNIDDKDeficiency
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 Dehydrogenase
14-I-0091Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995Completed Study; data analyses ongoing3-125 YearsNIAIDDeficiency
14-I-0009Characterization and Management of Patients with HIV-1 Infection Who Experience Virologic Failure Despite Combination Antiretroviral TherapyCompleted Study; data analyses ongoing18-100 YearsNIAIDDeficiency
14-C-0079An Exploratory Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults with Cancer and Other Chronic IllnessesParticipants currently recruited/enrolled18-125 YearsNCI Deficiency
13-I-0157The Natural History of GATA2 Deficiency and Related DisordersParticipants currently recruited/enrolled2-100 YearsNIAIDDeficiency
13-H-0060Analysis of Samples Collected from a Subject who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT])Completed Study; data analyses ongoing18-100 YearsNHLBIDeficiency
13-C-0132Allogeneic Hematopoietic Stem Cell Transplant for Patients with Mutations in GATA2 or the MonoMAC SyndromeParticipants currently recruited/enrolled8-70 YearsNCI Deficiency
12-H-0110An 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 ongoing18-80 YearsNHLBIDeficiency
12-E-0050The Role of Gonadotropin Pulsations in the Regulation of Puberty and FertilityParticipants currently recruited/enrolled14-125 YearsNIEHSDeficiency
10-I-0148Natural History of Severe Allergic Inflammation and ReactionsNo longer recruiting/follow-up only2-80 YearsNIAIDDeficiency
10-C-0201Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells from Patients with DOCK8 Deficiency, LAD-1, and GATA2 DeficiencyParticipants currently recruited/enrolled18-40 YearsNCI Deficiency
10-C-0174Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 DeficiencyParticipants currently recruited/enrolled4-120 YearsNCI Deficiency
09-I-0086Screening Protocol for Genetic Diseases of Allergic InflammationNo longer recruiting/follow-up only0-99 YearsNIAIDDeficiency
07-I-0033Screening Protocol for Detection and Characterization of Infections and Infection SusceptibilityParticipants currently recruited/enrolled0-100 YearsNIAIDDeficiency
06-I-0015Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell DeathParticipants currently recruited/enrolled0-100 YearsNIAIDDeficiency
05-I-0213Screening and Baseline Assessment of Patients with Abnormalities of Immune FunctionParticipants currently recruited/enrolled0-125 YearsNIAIDDeficiency
05-CH-0013Adrenal Function in Critical IllnessCompleted Study; data analyses ongoing15-80 YearsNICHDDeficiency
03-AR-0173Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile DermatomyositisParticipants currently recruited/enrolled2-125 YearsNIAMSDeficiency
00-I-0159Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)Participants currently recruited/enrolled0-120 YearsNIAIDDeficiency
00-HG-0209Molecular and Clinical Studies of Primary Immunodeficiency DiseasesNo longer recruiting/follow-up only3-125 YearsNHGRIDeficiency
95-HG-0193Clinical and Basic Investigations into Hermansky-Pudlak SyndromeParticipants currently recruited/enrolled0-125 YearsNHGRIDeficiency
93-I-0119Detection and Characterization of Host Defense DefectsParticipants currently recruited/enrolled0-100 YearsNIAIDDeficiency
89-I-0158Studies of Immune Regulation in Patients with Common Variable Immunodeficiency and Related Humoral Immunodeficiency SyndromesParticipants currently recruited/enrolled2-125 YearsNIAIDDeficiency
76-HG-0238Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic DisordersParticipants currently recruited/enrolled0-115 YearsNHGRIDeficiency