Not applicableNo Longer AvailableNCT02233257What this trial is testingExpanded Access for Lorenzo's Oil (GTO/GTE) in AdrenoleukodystrophyWho this might be right forX-linked Adrenoleukodystrophy University of Minnesota
Large-scale testing (Phase 3)WithdrawnNCT00935753What this trial is testingTrial of Kuvan in Lesch-Nyhan DiseaseWho this might be right forBehavioral Manifestations of Lesch-Nyhan Disease University of California, San Diego
Not applicableNot Yet RecruitingNCT07328165What this trial is testingThe Impact of Core Stability Versus Respiratory Muscle Strengthening Exercises on Bone Mineral Density in Children With Down SyndromeWho this might be right forDown Syndrome (DS)Low Bone Mineral Density Cairo University 60
Large-scale testing (Phase 3)Active Not RecruitingNCT02616484What this trial is testingTrial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Who this might be right forPyruvate Dehydrogenase Complex Deficiency Saol Therapeutics Inc 34
Not applicableStudy completedNCT03161171What this trial is testingParental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-IIIWho this might be right forMucopolysaccharidosis Type IMucopolysaccharidosis Type IIMucopolysaccharidosis Type III+2 more University Hospital Heidelberg 34
Not applicableStudy completedNCT04436692What this trial is testingDietary Intervention and Adults With Intellectual DisabilitiesWho this might be right forIntellectual Disabilities NutritionalIntellectual Disability University of Oslo 32
Large-scale testing (Phase 3)Active Not RecruitingNCT04348136What this trial is testingAn Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type IIWho this might be right forMucopolysaccharidosis II JCR Pharmaceuticals Co., Ltd. 27
Not applicableUnknownNCT06279052What this trial is testingAdolescent Projections During Transition in Prader-Willi SyndromeWho this might be right forPrader-Willi Syndrome University Hospital, Toulouse 20
Not applicableLooking for participantsNCT04880356What this trial is testingLongitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.Who this might be right forInherited DiseaseRare DiseasesMetabolic Disease+3 more Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableStudy completedNCT00519311What this trial is testingHealth Intervention for Adolescents With Intellectual DisabilityWho this might be right forVision ImpairmentHearing ImpairmentObesity The University of Queensland 732
Post-approval studies (Phase 4)Study completedNCT02455622What this trial is testingLong-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of AgeWho this might be right forHunter Syndrome Shire 21
Large-scale testing (Phase 3)Study completedNCT00007020What this trial is testingCompassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidWho this might be right forInfantile Refsum's DiseaseZellweger SyndromeAdrenoleukodystrophy+2 more Mirum Pharmaceuticals, Inc. 85
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
Not applicableNot Yet RecruitingNCT07006207What this trial is testingBrain Olfactory Pathways in Prader-Willi SyndromeWho this might be right forPrader-Willi Syndrome University Hospital, Toulouse 30
Not applicableActive Not RecruitingNCT05778032What this trial is testingBiological Age Assessment in Adults With Prader-Willi Syndrome (ETABIOLPWS)Who this might be right forPrader-Willi Syndrome Istituto Auxologico Italiano 30
Large-scale testing (Phase 3)Enrolling By InvitationNCT05594992What this trial is testingAn Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) SubjectsWho this might be right forMucopolysaccharidosis II JCR Pharmaceuticals Co., Ltd. 80
Not applicableUnknownNCT06156124What this trial is testingThe Role of Family and Individual Factors in Going Through Adolescence - Perspective of a Healthy Child.Who this might be right forDisability, IntellectualDisability PsychologicalDisability, Developmental+7 more University of Gdansk 320
Not applicableStudy completedNCT01449240What this trial is testingCollection and Study of Cerebrospinal Fluid in Patients With Hunter SyndromeWho this might be right forHunter Syndrome Shire 10
Not applicableLooking for participantsNCT05939232What this trial is testingRegistry of X-linked AdrenoleukodystrophyWho this might be right forX-linked Adrenoleukodystrophy Beijing Tiantan Hospital 200
Not applicableEnrolling By InvitationNCT05368038What this trial is testingScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening ProgramWho this might be right forAcid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more Albert Einstein College of Medicine 100,000