4 recruiting, 3 completed, 2 terminated, 1 enrolling by invitation. 2 Not applicable, 1 Phase 1, 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 2 | Enrolling by invitation 1, Terminated 1 |
| Phase 1 | 1 | Completed 1 |
| Phase 2 | 1 | Completed 1 |
Follow Cockayne Syndrome: new trials by email Literature Review of Cockayne Syndrome trials Research Report on Cockayne Syndrome
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Palliative Care Needs of Children With Rare Diseases and Their Families Family Centered pediatric palliative care for family caregivers of children with rare diseases. - Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia | Not applicable | Enrolling by invitation | Children's National Research Institute | 480 | 2025-10-02 | 2026-01-28 |
| Impact of Transcatheter Aortic Valve Implantation and Mitral Valve Repair on Sleep-Disordered Breathing Sleep-disordered Breathing (SDB), Aortic Valve Stenosis | Recruiting | Aristides Plaitis | 150 | 2025-07-20 | 2026-04-09 | |
| Natural History Study for DNA Repair Disorders Interval History, Physical Examination, ECAB Assessment - DNA Repair Disorder, Cockayne Syndrome | Recruiting | University of Minnesota | 40 | 2022-10-01 | 2026-05-27 | |
| Growth Curves in Cockayne Syndrome Type 1 and Type 2 Cockayne Syndrome, Type I and II | Unknown | University Hospital, Strasbourg, France | 85 | 2020-11-01 | 2021-12-01 | |
| Metabolic Study of Cockayne Syndrome Metabolic evaluation - Cockayne Syndrome | Not applicable | Terminated | University Hospital, Strasbourg, France | 25 | 2017-04-04 | 2025-08-03 |
| LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Leukodystrophy, White Matter Disease | Completed | Children's Hospital of Philadelphia | 236 | 2017-01-06 | 2025-11-10 | |
| The Myelin Disorders Biorepository Project Leukodystrophy, White Matter Disease | Recruiting | Children's Hospital of Philadelphia | 12000 | 2016-12-08 | 2026-11-12 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Rare Disorders, Undiagnosed Disorders | Recruiting | Sanford Health | 20000 | 2010-07-01 | 2026-10-28 | |
| Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome Prodarsan - Cockayne Syndrome | Phase 1 / Phase 2 | Completed | DNage B.V. | 5 | 2010-06-01 | 2011-06-23 |
| Observational Study to Assess Natural History in Cockayne Syndrome Patients Cockayne Syndrome | Terminated | DNage B.V. | 40 | 2009-09-01 | 2011-06-23 | |
| Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Cockayne Syndrome, Skin Neoplasms | Completed | National Cancer Institute (NCI) | 709 | 1999-05-10 | 2026-11-09 |
Leukodystrophy, Metachromatic (3) · Leukoencephalopathy Brain Calcifications and Cysts (3) · Refsum Disease (3) · Adrenoleukodystrophy (2) · Aicardi-Goutieres syndrome (2) · Alexander Disease (2) · Alexanders leukodystrophy (2) · Allan-Herndon-Dudley syndrome (2) · Attention Deficit Disorder with Hyperactivity (2) · CADASIL (2) · Canavan Disease (2) · Charcot-Marie-Tooth Disease (2) · DNA Repair-Deficiency Disorders (2) · Gangliosidoses (2)
Abnormalities, Multiple (11) · Bone Diseases (11) · Bone Diseases, Developmental (11) · Congenital Abnormalities (11) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (11) · Heredodegenerative Disorders, Nervous System (11) · Metabolic Diseases (11) · Musculoskeletal Diseases (11) · Nervous System Diseases (11) · Neurodegenerative Diseases (11) · Nutritional and Metabolic Diseases (11) · Dwarfism (10) · Genetic Diseases, Inborn (10) · DNA Repair-Deficiency Disorders (9) · Skin and Connective Tissue Diseases (6)
Children's Hospital of Philadelphia (2) · DNage B.V. (2) · University Hospital, Strasbourg, France (2) · Aristides Plaitis (1) · Children's National Research Institute (1) · National Cancer Institute (NCI) (1) · Sanford Health (1) · University of Minnesota (1)
United States (8) · France (3) · Greece (1) · United Kingdom (1)
Adeline Vanderver, MD (2) · E. G. Neilan, MD, PhD (1) · Edward Neilan, MD (1) · Maureen E Lyon, PhD (1) · Michael R Sargen, M.D. (1) · Peter Kang, MD (1)
PMID 24918982, PMID 31503159, PMID 32342562, PMID 32749716
R01HD117137 (1), U01NS106845 (1), U54NS115052 (1)