Clinical trials: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit.
- Trial name
- GENEPI (NCT04122742)
- Testing
- 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
- Where
- France
- Volunteers
- 154 people
- Sponsor
- University Hospital, Bordeaux
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
An exploratory phase 2 therapeutic trial in children from 6 to 21, RTS carriers, randomized to be treated either with sodium valproate with the usual pediatric dosage (30 mg/kg/j), or by placebo for one year.
- Trial name
- RUBIVAL (NCT01619644)
- Testing
- sodium valproate
- Where
- France
- Volunteers
- 41 people
- Sponsor
- University Hospital, Bordeaux
Hypofibrinogenemia, Afibrinogenemia
Human Fibrinogen Concentrate in Pediatric Cardiac Surgery
The goal of the study is to determine whether the use of Human Fibrinogen Concentrate (RiaSTAP) will decrease blood loss and the need for component blood therapy in neonates and infants undergoing cardiopulmonary bypass.
- Conditions
- Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
- Trial name
- RiaSTAP (NCT02822599)
- Testing
- RiaStAP, Saline
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Urothelial Carcinoma
Study of Mocetinostat in Patients With Urothelial Carcinoma Having Inactivating Alterations of Specific Genes
Mocetinostat is an orally administered histone deacetylase (HDAC) inhibitor. This study is a Phase 2 trial evaluating the efficacy of mocetinostat in patients that have advanced urothelial carcinoma that has specific changes in…
- Trial name
- NCT02236195
- Testing
- Mocetinostat
- Where
- 14 sites in United States
- Volunteers
- 17 people
- Sponsor
- Mirati Therapeutics Inc.