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Results for “Cockayne Syndrome”

12 trials

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Showing 12 of 12 results

Testing effectiveness (Phase 2)UnknownNCT03016715
What this trial is testing

Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study

Who this might be right for
Epidermolysis Bullosa SimplexEpidermolysis Bullosa Simplex KobnerWeber-Cockayne Syndrome
Premier Specialists, Australia 8
Testing effectiveness (Phase 2)Study completedNCT01142154
What this trial is testing

Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome

Who this might be right for
Cockayne Syndrome
DNage B.V. 5
Not applicableStudy completedNCT02699190
What this trial is testing

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Who this might be right for
LeukodystrophyWhite Matter Disease4H Syndrome+61 more
Children's Hospital of Philadelphia 236
Not applicableEnded earlyNCT03044210
What this trial is testing

Metabolic Study of Cockayne Syndrome

Who this might be right for
Cockayne Syndrome
University Hospital, Strasbourg, France 25
Not applicableStudy completedNCT00001813
What this trial is testing

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Who this might be right for
Cockayne SyndromeSkin NeoplasmsXeroderma Pigmentosum+2 more
National Cancer Institute (NCI) 709
Testing effectiveness (Phase 2)Study completedNCT02960997
What this trial is testing

Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study

Who this might be right for
Epidermolysis Bullosa SimplexEpidermolysis Bullosa Simplex KobnerWeber-Cockayne Syndrome
Stanford University 8
Not applicableLooking for participantsNCT05484570
What this trial is testing

Natural History Study for DNA Repair Disorders

Who this might be right for
DNA Repair DisorderCockayne SyndromeXeroderma Pigmentosum+1 more
University of Minnesota 40
Not applicableEnrolling By InvitationNCT06938542
What this trial is testing

Palliative Care Needs of Children With Rare Diseases and Their Families

Who this might be right for
Trisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more
Children's National Research Institute 480
Not applicableEnded earlyNCT00985413
What this trial is testing

Observational Study to Assess Natural History in Cockayne Syndrome Patients

Who this might be right for
Cockayne Syndrome
DNage B.V. 40
Not applicableLooking for participantsNCT03047369
What this trial is testing

The Myelin Disorders Biorepository Project

Who this might be right for
LeukodystrophyWhite Matter DiseaseLeukoencephalopathies+63 more
Children's Hospital of Philadelphia 12,000
Not applicableLooking for participantsNCT01793168
What this trial is testing

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Who this might be right for
Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more
Sanford Health 20,000
Not applicableUnknownNCT05090917
What this trial is testing

Growth Curves in Cockayne Syndrome Type 1 and Type 2

Who this might be right for
Cockayne Syndrome, Type I and II
University Hospital, Strasbourg, France 85