5 completed, 2 recruiting. 2 Not applicable, 1 Early Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 2 | Completed 2 |
| Early Phase 1 | 1 | Completed 1 |
Follow Kabuki syndrome: new trials by email Literature Review of Kabuki syndrome trials Research Report on Kabuki 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 |
|---|---|---|---|---|---|---|
| Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset Methylation analysis - Rare Fetal Genetic Diseases, Congenital Malformation | Recruiting | Assistance Publique - Hôpitaux de Paris | 63 | 2026-02-26 | 2026-03-27 | |
| Study of Modified Atkins Diet in Kabuki Syndrome Modified Atkins diet - Kabuki Syndrome | Early Phase 1 | Completed | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. | 10 | 2021-04-01 | 2025-05-13 |
| Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders Intervention on primary cultured cells - Kabuki Syndrome 1 | Completed | University Hospital, Montpellier | 8 | 2020-09-28 | 2020-12-01 | |
| Assessment of Memory in Children With Kabuki Syndrom No arm intervention - Kabuki Syndrome | Not applicable | Completed | University Hospital, Montpellier | 25 | 2018-06-08 | 2018-12-03 |
| 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 | |
| French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Kabuki Syndrome | Completed | Assistance Publique - Hôpitaux de Paris | 110 | 2008-09-01 | 2017-11-20 | |
| Actigraphic Analysis of Treatment Response risperidone - Sleep Disorders, Circadian Rhythm, Insomnia | Not applicable | Completed | Child Psychopharmacology Institute | 1 | 2008-05-01 | 2015-08-18 |
3-Methylglutaconic Aciduria, Type V (1) · Achalasia Addisonianism Alacrimia syndrome (1) · Acrodysostosis (1) · Activated PI3K-delta Syndrome (1) · Addison Disease (1) · Alagille Syndrome (1) · Alstrom Syndrome (1) · Amnesia, Transient Global (1) · Aniridia (1) · Aniridia and Absent Patella (1) · Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (1) · Ataxia (1) · Ataxia Neuropathy Spectrum (1) · Ataxia Telangiectasia (1)
Nervous System Diseases (3) · Neurologic Manifestations (3) · Pathological Conditions, Signs and Symptoms (3) · Signs and Symptoms (3) · Abnormalities, Multiple (2) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (2) · Dyskinesias (2) · Dyssomnias (2) · Ear Diseases (2) · Eye Diseases (2) · Eye Diseases, Hereditary (2) · Genetic Diseases, Inborn (2) · Hearing Disorders (2) · Hearing Loss (2) · Mental Disorders (2)
Risperidone (1)
Assistance Publique - Hôpitaux de Paris (2) · University Hospital, Montpellier (2) · Child Psychopharmacology Institute (1) · Hugo W. Moser Research Institute at Kennedy Krieger, Inc. (1) · Sanford Health (1)
France (4) · United States (3)
Alessio Zippo, PhD (1) · Bill J Duke, M.A., Ph.D. (1)