Not applicableStudy completedNCT05014997What this trial is testingTyG Index Levels in Klinefelter SyndromeWho this might be right forCardiac EventKlinefelter SyndromeEndothelial Dysfunction Gulhane School of Medicine 60
Not applicableLooking for participantsNCT06274164What this trial is testingClinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related DisordersWho this might be right forRAI1 Gene 17P11.2 Deletion+Duplication Baylor College of Medicine 90
Not applicableStudy completedNCT03860064What this trial is testingAneuploidy Rates of in Vitro Matured OocytesWho this might be right forAneuploidy IVI Barcelona 60
Large-scale testing (Phase 3)Looking for participantsNCT06914609What this trial is testingREVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman SyndromeWho this might be right forAngelman Syndrome Ionis Pharmaceuticals, Inc. 158
Large-scale testing (Phase 3)Ended earlyNCT00754052What this trial is testingEvaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17Who this might be right forDown SyndromeCognitive Dysfunction Eisai Inc. 8
Testing effectiveness (Phase 2)Study completedNCT03722290What this trial is testingMetformin in Children and Adults With Fragile X SyndromeWho this might be right forFragile X Syndrome Université de Sherbrooke 15
Not applicableStudy completedNCT00544531What this trial is testingThe Cytogenetic Constitution of Embryos Resulting From Immature Oocytes (M1)Who this might be right forInfertility Assaf-Harofeh Medical Center 23,907
Testing effectiveness (Phase 2)Ended earlyNCT01013480What this trial is testingAn Open Label Extension Study of STX209 in Subjects With Fragile X SyndromeWho this might be right forFragile X Syndrome Seaside Therapeutics, Inc. 45
Post-approval studies (Phase 4)Looking for participantsNCT06544473What this trial is testingDetermining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner SyndromeWho this might be right forTurner SyndromeHypogonadism; OvarianHormone Replacement Therapy+2 more Aarhus University Hospital 50
Not applicableNot Yet RecruitingNCT07509879What this trial is testingResearch on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum DisorderWho this might be right forWilliams SyndromeAutism Disorder Qilu Hospital of Shandong University 75
Not applicableUnknownNCT04754178What this trial is testingAssessment of Skills and Behaviors in Children With Down SyndromeWho this might be right forDown Syndrome Universidad de Granada 60
Testing effectiveness (Phase 2)Study completedNCT00001221What this trial is testingEffect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner SyndromeWho this might be right forGonadal DysgenesisTurner's Syndrome Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 160
Not applicableStudy completedNCT03718416What this trial is testingNatural History Study of Serious Medical Events in PWSWho this might be right forPrader-Willi Syndrome Foundation for Prader-Willi Research 700
Not applicableStudy completedNCT02541058What this trial is testingNon-Invasive Chromosomal Evaluation of 22q11.2Who this might be right for22q.11.2 Deletion/Duplication Cindy Cisneros 420
Large-scale testing (Phase 3)Study completedNCT01563926What this trial is testingEvaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone DeficiencyWho this might be right forGrowth Hormone DisorderGrowth Hormone Deficiency in ChildrenGenetic Disorder+1 more Novo Nordisk A/S 168
Not applicableStudy completedNCT02127515What this trial is testingNon Invasive Prenatal Testing of Down SyndromeWho this might be right forDown Syndrome Assistance Publique - Hôpitaux de Paris 2,111
Not applicableEnrolling By InvitationNCT06614582What this trial is testingLong-term Evaluation of Nasopharyngeal Airway in HypotoniaWho this might be right forHypotonia, MuscleObstructive Sleep ApneaNasal Airway Obstruction University of Michigan 40
Not applicableStudy completedNCT04526379What this trial is testingStudy of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative RemediationWho this might be right forPrader-Willi Syndrome University Hospital, Toulouse 50
Not applicableLooking for participantsNCT06560242What this trial is testingTracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- InfantWho this might be right forFragile X Syndrome Children's Hospital Medical Center, Cincinnati 30
Large-scale testing (Phase 3)Ended earlyNCT06860373What this trial is testingLIFE-DSR-Biomarker Sub-study of Biomarkers in Down Syndrome Related Alzheimer's Disease (DS-AD)Who this might be right forDown Syndrome LuMind IDSC Foundation 5