Identifying Epigenetic Markers in Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
This study is trying to find specific markers in the genes of people with Rubinstein-Taybi Syndrome to see how these markers affect brain development and memory.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 154 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | University Hospital, Bordeaux Academic / other |
| Locations | 1 site (Talence) |
| Trial ID | NCT04122742 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize histone acetylation profiles in patients with Rubinstein-Taybi Syndrome (RSTS) to identify specific acetylation markers during neuronal differentiation. By analyzing skin biopsies and blood samples from patients with known CREBBP and EP300 gene variants, researchers will explore the role of these epigenetic modifications in neurodevelopment and memory formation. The study utilizes induced pluripotent stem cells (iPSCs) derived from patient fibroblasts to investigate the functional implications of identified acetylation alterations in neuronal cells.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with RSTS who carry CREBBP or EP300 gene variants and are older than 2 years.
Not a fit: Patients without a clinical and molecular diagnosis of RSTS or those with other genetic conditions unrelated to CREBBP or EP300 variants may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic markers and therapeutic strategies for enhancing cognitive function in RSTS patients.
How similar studies have performed: While studies on histone acetylation in other contexts have shown promise, this specific approach in RSTS is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient with a clinical and molecular diagnosis of RSTS * Patients carrying the CREBBP or EP300 variants * Patients older than 2 years * Affiliated patients or beneficiaries of a social security scheme. * Free, informed and signed consent by the parents or holder of parental authority for minor patients * Free, informed and signed consent by the patient representative for the major patients under guardianship * Free, informed and signed consent by the patient for major patients Exclusion Criteria: Patients having: * a history of allergy to any product or device that may be used before, during, and after the biopsy; * cutaneous disease of the areas where the biopsy is to be performed * underwent physical treatment (radiotherapy, ...) on the area to be biopsied, during the last 6 months * hereditary or acquired disorders of hemostasis Patients under treatment: * likely to act on the haemostasis (anticoagulants, platelet antiaggregants, ...) in the month preceding the inclusion and during the study * by histone deacetylase inhibitor (sodium valproate) likely to interfere with the interpretation of the results.
Where this trial is running
Talence
- Centre Hospitalier Universitaire de Bordeaux — Talence, France (Recruiting)
Study contacts
- Study coordinator: Julien VAN-GILS
- Email: julien.van-gils@chu-bordeaux.fr
- Phone: +33 5 57 82 03 53
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.