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

> **NCT04122742** · — · UNKNOWN · sponsor: **University Hospital, Bordeaux** · enrollment: 154 (estimated)

## Conditions studied

- Rubinstein-Taybi Syndrome

## Interventions

- **PROCEDURE:** 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.
- **OTHER:** Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy
- **OTHER:** Histone acetylation profiles of cells of SRT patients with CREBBP mutations
- **OTHER:** Functional involvement of identified epigenetic alterations
- **BIOLOGICAL:** Culture of lymphoblastoid line from blood sample

## Key facts

- **NCT ID:** NCT04122742
- **Lead sponsor:** University Hospital, Bordeaux
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** UNKNOWN
- **Start date:** 2019-10-08
- **Primary completion:** 2025-10
- **Final completion:** 2025-10
- **Target enrollment:** 154 (ESTIMATED)
- **Last updated:** 2024-01-17


## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT04122742

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT04122742, "Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.". Retrieved via AI Analytics 2026-07-18 from https://api.ai-analytics.org/clinical/NCT04122742. Licensed CC0.

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