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

Status: Recruiting
Location: See location...
Intervention Type: Biological, Other, Procedure
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 2
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
France
Centre Hospitalier Universitaire de Bordeaux
RECRUITING
Talence
Contact Information
Primary
Julien VAN-GILS
julien.van-gils@chu-bordeaux.fr
+33 5 57 82 03 53
Time Frame
Start Date: 2019-10-08
Estimated Completion Date: 2025-10
Participants
Target number of participants: 154
Treatments
Patients with RSTS
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Bordeaux

This content was sourced from clinicaltrials.gov