Not applicableLooking for participantsNCT04569149What this trial is testingPrimordial Dwarfism RegistryWho this might be right forMOPDIIMeier-Gorlin SyndromeSaul-Wilson Syndrome+4 more Nemours Children's Clinic 200
Not applicableLooking for participantsNCT04885179What this trial is testingSPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)Who this might be right forSphingolipidosesEnzyme Deficiency University of California, San Francisco 120
Not applicableLooking for participantsNCT01793168What this trial is testingRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordWho this might be right forRare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more Sanford Health 20,000
Not applicableNot Yet RecruitingNCT04252001What this trial is testingGrowing up With the Young Endocrine Support System (YESS!)Who this might be right forCongenital Adrenal HyperplasiaHypogonadotropic HypogonadismGrowth Hormone Deficiency+6 more dr. Laura C. G. de Graaff-Herder 160
Not applicableWithdrawnNCT00485186What this trial is testingGene Polymorphisms Influencing Steroid Synthesis and ActionWho this might be right forDisorders of Sex DevelopmentCongenital Adrenal HyperplasiaCongenital Adrenal Hypoplasia+3 more University Hospital Schleswig-Holstein
Not applicableLooking for participantsNCT06669949What this trial is testingNatural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)Who this might be right forSphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) University of California, San Francisco 28
Testing effectiveness (Phase 2)Study completedNCT02096510What this trial is testingUltradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal HyperplasiaWho this might be right forAddison DiseaseAdrenal Hyperplasia Congenital Haukeland University Hospital 8