UnknownNot Applicable

Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.

France154 participantsStarted 2019-10-08

Plain-language 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 challenge is to improve the intellectual and memory efficiency of these patients. CREBBP and EP300 are the two genes known to cause RSTS. Both paralogs play a major role in chromatin remodeling and encode for transcriptional co-activators interacting with many proteins. The aim of this pilot study is to characterize the histone acetylation profiles in order to identify specific acetylation markers during normal and pathological neuronal differentiation of cortical and pyramidal neurons in RSTS.

Who can participate

Age range

2 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Identification of a specific acetylation profile of RSTS

Timeframe: Inclusion visit

Trial details

NCT IDNCT04122742

SponsorUniversity Hospital, Bordeaux

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-10

Contact for this trial

Julien VAN-GILS

+33 5 57 82 03 53 julien.van-gils@chu-bordeaux.fr

View on ClinicalTrials.gov More Rubinstein-Taybi Syndrome trials