Status:
RECRUITING
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Lead Sponsor:
University Hospital, Bordeaux
Conditions:
Rubinstein-Taybi Syndrome
Eligibility:
All Genders
2+ years
Brief Summary
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. The main chal...
Detailed Description
CREBBP and EP300 are the two paralog genes associated with RSTS determinism and code for CBP and p300, respectively. These proteins are transcriptional coactivators that possess a catalytic lysine ace...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
October 8 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
October 1 2025
Estimated Enrollment :
154 Patients enrolled
Trial Details
Trial ID
NCT04122742
Start Date
October 8 2019
End Date
October 1 2025
Last Update
January 17 2024
Active Locations (1)
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1
Centre Hospitalier Universitaire de Bordeaux
Talence, France, 33400