Not applicableNot Yet RecruitingNCT07837518What this trial is testingKnowledge of Inborn Errors of Immunity Among Pediatric PhysiciansWho this might be right forPrimary Immunodeficiency Diseases Assiut University 347
Not applicableLooking for participantsNCT01780168What this trial is testingThe NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of MetabolismWho this might be right forOxidative Phosphorylation DeficienciesElectron Transport Chain Disorders, MitochondrialMitochondrial Disorders+1 more National Human Genome Research Institute (NHGRI) 500
Not applicableStudy completedNCT03414528What this trial is testingIdentification of New Inborn Errors of ImmunityWho this might be right forPrimary Immune Deficiency Disorder University of Zurich 9
Not applicableNot Yet RecruitingNCT07526714What this trial is testingLongitudinal Prognosis of Lymphoproliferative Manifestations in Primary ImmunodeficienciesWho this might be right forPrimary Immune DeficienciesBenign Lymphoproliferative Disorder Central Hospital, Nancy, France 60
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07670156What this trial is testingUpadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating MutationsWho this might be right forJAK1 GOFSTAT1 GOFSTAT3 GOF+2 more Lisa Satter 30
Not applicableLooking for participantsNCT03206099What this trial is testingNIAID Centralized Sequencing ProtocolWho this might be right forAtopyPrimary ImmunodeficiencyAutoimmunity+1 more National Institute of Allergy and Infectious Diseases (NIAID) 20,000
Not applicableStudy completedNCT05803356What this trial is testingGenetic and Immunologic Characterization of IEIWho this might be right forImmunity DisordersInborn Errors of Immunity IRCCS Burlo Garofolo 156
Not applicableStudy completedNCT01358188What this trial is testingExploration of Immunity in Gaucher DiseaseWho this might be right forGaucher Disease O & O Alpan LLC 33
Not applicableNot Yet RecruitingNCT06876337What this trial is testingFrequency of Skin Diseases in Children with Inborn Errors of ImmunityWho this might be right forSkin Condition Assiut University 60
Testing effectiveness (Phase 2)Looking for participantsNCT04339777What this trial is testingAllogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of ImmunityWho this might be right forLymphoproliferative DisordersAutoimmune LymphoproliferativeImmune System Diseases+2 more National Cancer Institute (NCI) 66
Early research (Phase 1)Ended earlyNCT02185651What this trial is testingA Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionWho this might be right forPompe DiseaseHypersensitivity Reaction University of Florida 2
Not applicableLooking for participantsNCT06857604What this trial is testingThe Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological DiseasesWho this might be right forHematologic Diseases Meyer Children's Hospital IRCCS 700
Not applicableNot Yet RecruitingNCT06649643What this trial is testingInbon Errors of Immunity Attending Assiut University Children&Amp;#39;s Hospital: a Single Center StudyWho this might be right forPrimary Immunodeficiency Diseases (PID) Assiut University 60
Not applicableNot Yet RecruitingNCT07262047What this trial is testingQuality of Life Among Children With Inborn Error of ImmunityWho this might be right forPrimary Immunodeficiency Sohag University 50
Not applicableStudy completedNCT02302690What this trial is testingImmunity Against AAV in Crigler Najjar PatientWho this might be right forCrigler Najjar Syndrome Genethon 49
Testing effectiveness (Phase 2)Ended earlyNCT04364178What this trial is testingViral Specific T-Lymphocytes to Treat Adenovirus, CMV and EBVWho this might be right forAdenovirusCytomegalovirus InfectionsEpstein-Barr Virus Jessie L. Alexander, MD 8
Not applicableUnknownNCT00345280What this trial is testingOcular Surface Changes in Patients With Cystic FibrosisWho this might be right forEye Manifestations University of Bialystok 26
Not applicableUnknownNCT05870410What this trial is testingEvaluation Of Non Infectious Presentation of Inborn Errors Of ImmunityWho this might be right forInborn Errors of Immunity Sohag University 200
Not applicableLooking for participantsNCT07111793What this trial is testingIdentification of Clinical, Genetic and Immunological Factors Involved in the Development of Severe Bacterial Infections in PediatricsWho this might be right forSevere Bacterial Infections Nantes University Hospital 1,401
Post-approval studies (Phase 4)Looking for participantsNCT07477691What this trial is testingImmune Modulation During Palynziq® Treatment in Adults (IMPALA)Who this might be right forPhenylketonuria BioMarin Pharmaceutical 12