3 completed, 2 unknown, 1 recruiting. 2 Not applicable, 2 Phase 2, 1 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 2 | Recruiting 1, Unknown 1 |
| Phase 2 | 2 | Completed 2 |
| Phase 4 | 1 | Completed 1 |
Follow Rubinstein-Taybi Syndrome: new trials by email Literature Review of Rubinstein-Taybi Syndrome trials Research Report on Rubinstein-Taybi 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 |
|---|---|---|---|---|---|---|
| Physical Activity and Community EmPOWERment Project PACE Program - Intellectual Disability, Neurodevelopmental Disorders | Not applicable | Recruiting | University of North Carolina, Chapel Hill | 376 | 2025-01-10 | 2026-02-23 |
| Functional Tests to Resolve Unsolved Rare Diseases. Rares. Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients - Intellectual Disability, Rubinstein-Taybi Syndrome | Not applicable | Unknown | University Hospital, Bordeaux | 50 | 2023-01-30 | 2024-02-21 |
| Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included., Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy, Histone acetylation profiles of cells of SRT patients with CREBBP mutations - Rubinstein-Taybi Syndrome | Unknown | University Hospital, Bordeaux | 154 | 2019-10-08 | 2024-01-17 | |
| Human Fibrinogen Concentrate in Pediatric Cardiac Surgery RiaStAP, Saline - Hypofibrinogenemia, Afibrinogenemia | Phase 4 | Completed | Nicklaus Children's Hospital f/k/a Miami Children's Hospital | 30 | 2017-06-01 | 2021-09-16 |
| Study of Mocetinostat in Patients With Urothelial Carcinoma Having Inactivating Alterations of Specific Genes Mocetinostat - Urothelial Carcinoma | Phase 2 | Completed | Mirati Therapeutics Inc. | 17 | 2014-10-01 | 2017-09-01 |
| Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial sodium valproate, Placebo - Rubinstein-Taybi Syndrome | Phase 2 | Completed | University Hospital, Bordeaux | 41 | 2012-04-01 | 2026-05-14 |
Heart Defects, Congenital (2) · Intellectual Disability (2) · Afibrinogenemia (1) · Albinism (1) · Autism Spectrum Disorder (1) · Carcinoma, Transitional Cell (1) · Cri-du-Chat Syndrome (1) · Cystic Fibrosis (1) · De Lange Syndrome (1) · Disease (1) · Down Syndrome (1) · Fragile X Syndrome (1) · Hemostatic Disorders (1) · Motor Activity (1)
Abnormalities, Multiple (6) · Bone Diseases (6) · Bone Diseases, Developmental (6) · Chromosome Disorders (6) · Congenital Abnormalities (6) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (6) · Craniofacial Abnormalities (6) · Dysostoses (6) · Genetic Diseases, Inborn (6) · Musculoskeletal Abnormalities (6) · Musculoskeletal Diseases (6) · Nervous System Diseases (6) · Neurobehavioral Manifestations (6) · Neurologic Manifestations (6) · Intellectual Disability (4)
Blood Specimen Collection (1) · Fibrinogen (1) · Saline Solution (1) · Sodium Chloride (1) · Valproic Acid (1) · mocetinostat (1)
University Hospital, Bordeaux (3) · Mirati Therapeutics Inc. (1) · Nicklaus Children's Hospital f/k/a Miami Children's Hospital (1) · University of North Carolina, Chapel Hill (1)
France (3) · United States (3)
Brianne R Tomaszewski, PhD., MPH (1) · Christopher Tirotta, MD (1)
PMID 28748333, PMID 30570744, PMID 35305111
R01AG076678 (1)