Not applicableEnded earlyNCT00985413What this trial is testingObservational Study to Assess Natural History in Cockayne Syndrome PatientsWho this might be right forCockayne Syndrome DNage B.V. 40
Not applicableStudy completedNCT00001813What this trial is testingExamination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyWho this might be right forCockayne SyndromeSkin NeoplasmsXeroderma Pigmentosum+2 more National Cancer Institute (NCI) 709
Not applicableStudy completedNCT02699190What this trial is testingLeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for LeukodystrophiesWho this might be right forLeukodystrophyWhite Matter Disease4H Syndrome+61 more Children's Hospital of Philadelphia 236
Testing effectiveness (Phase 2)Study completedNCT02960997What this trial is testingUsing Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyWho this might be right forEpidermolysis Bullosa SimplexEpidermolysis Bullosa Simplex KobnerWeber-Cockayne Syndrome Stanford University 8
Not applicableEnded earlyNCT03044210What this trial is testingMetabolic Study of Cockayne SyndromeWho this might be right forCockayne Syndrome University Hospital, Strasbourg, France 25
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
Testing effectiveness (Phase 2)UnknownNCT03016715What this trial is testingUsing Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyWho this might be right forEpidermolysis Bullosa SimplexEpidermolysis Bullosa Simplex KobnerWeber-Cockayne Syndrome Premier Specialists, Australia 8
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 applicableUnknownNCT05090917What this trial is testingGrowth Curves in Cockayne Syndrome Type 1 and Type 2Who this might be right forCockayne Syndrome, Type I and II University Hospital, Strasbourg, France 85
Not applicableLooking for participantsNCT07520656What this trial is testingImpact of Transcatheter Aortic Valve Implantation and Mitral Valve Repair on Sleep-Disordered BreathingWho this might be right forSleep-disordered Breathing (SDB)Aortic Valve StenosisMitral Valve Regurgitation Aristides Plaitis 150
Testing effectiveness (Phase 2)Study completedNCT01142154What this trial is testingPharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne SyndromeWho this might be right forCockayne Syndrome DNage B.V. 5
Not applicableLooking for participantsNCT05484570What this trial is testingNatural History Study for DNA Repair DisordersWho this might be right forDNA Repair DisorderCockayne SyndromeXeroderma Pigmentosum+1 more University of Minnesota 40
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