Not applicableStudy completedNCT05024110What this trial is testingEffect of Exercise Intensity on Vitamin DWho this might be right forDown SyndromeVitamin D Deficiency Taif University 44
Early research (Phase 1)Looking for participantsNCT06340685What this trial is testingTriheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) DeficiencyWho this might be right forPyruvate Dehydrogenase Complex Deficiency Jirair Krikor Bedoyan 6
Large-scale testing (Phase 3)Study completedNCT00069641What this trial is testingIduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)Who this might be right forMucopolysaccharidosis II Shire 96
Not applicableEnrolling By InvitationNCT06938542What this trial is testingPalliative Care Needs of Children With Rare Diseases and Their FamiliesWho this might be right forTrisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more Children's National Research Institute 480
Not applicableStudy completedNCT02738281What this trial is testingNatural History of Rett Syndrome & Related DisordersWho this might be right forRett SyndromeMECP2 Duplication dIsorderCDKL5 Disorder+1 more University of Alabama at Birmingham 1,044
Early research (Phase 1)Study completedNCT00692926What this trial is testingUnrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood CellsWho this might be right forMDSAnemia, AplasticInborn Errors of Metabolism+2 more Joanne Kurtzberg, MD 37
Testing effectiveness (Phase 2)Looking for participantsNCT01962415What this trial is testingReduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCTWho this might be right forPrimary Immunodeficiency (PID)Congenital Bone Marrow Failure SyndromesInherited Metabolic Disorders (IMD)+4 more Paul Szabolcs 100
Not applicableLooking for participantsNCT07416201What this trial is testingNatural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without ThymectomyWho this might be right forDown Syndrome National Institute of Allergy and Infectious Diseases (NIAID) 700
Early research (Phase 1)Looking for participantsNCT02254863What this trial is testingUCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsWho this might be right forAdrenoleukodystrophyBatten DiseaseMucopolysaccharidosis II+9 more Joanne Kurtzberg, MD 40
Not applicableStudy completedNCT05687474What this trial is testingBaby Detect : Genomic Newborn ScreeningWho this might be right forCongenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more Centre Hospitalier Universitaire de Liege 6,824
Not applicableActive Not RecruitingNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
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 applicableAvailableNCT01881334What this trial is testingExpanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood TransplantsWho this might be right forHematologic MalignanciesInborn Errors of Metabolism DisordersImmune Deficiencies Joanne Kurtzberg, MD
Not applicableUnknownNCT00005900What this trial is testingStudy of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationWho this might be right forI Cell DiseaseFucosidosisGloboid Cell Leukodystrophy+9 more Fairview University Medical Center 10
Early research (Phase 1)Study completedNCT00744692What this trial is testingReduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant DisordersWho this might be right forNon Malignant DisordersImmunodeficienciesCongenital Marrow Failures+5 more Duke University 22
Not applicableLooking for participantsNCT06036693What this trial is testingMPS (RaDiCo Cohort) (RaDiCo-MPS)Who this might be right forMucopolysaccharidosis IMucopolysaccharidosis IIMucopolysaccharidosis III+5 more Institut National de la Santé Et de la Recherche Médicale, France 1,000
Testing effectiveness (Phase 2)Ended earlyNCT01372228What this trial is testingPhase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersWho this might be right forHurler Syndrome (MPS I)Hurler-Scheie SyndromeHunter Syndrome (MPS II)+9 more Talaris Therapeutics Inc. 3
Not applicableStudy completedNCT05098600What this trial is testingThe Epidemiology, Management and Comorbidities in Alopecia Areata in Czech RepublicWho this might be right forAlopecia AreataAlopecia TotalisAlopecia Universalis+24 more Faculty Hospital Kralovske Vinohrady 123
Testing effectiveness (Phase 2)Study completedNCT03734263What this trial is testingUse of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.Who this might be right forPyruvate Dehydrogenase Complex Deficiency Fondazione Telethon 1
Not applicableLooking for participantsNCT03047369What this trial is testingThe Myelin Disorders Biorepository ProjectWho this might be right forLeukodystrophyWhite Matter DiseaseLeukoencephalopathies+63 more Children's Hospital of Philadelphia 12,000