Study on the pathogenicity of CREBBP splice variants

Pathogenicity Evaluation of Canonical Splice Site Variants in the CREBBP Gene: An Observational Study

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2600118765

Enrollment

Unknown

Registered

2026-02-10

Start date

2026-02-10

Completion date

Unknown

Last updated

2026-02-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Rubinstein-Taybi syndrome

Interventions

Study case:none

Eligibility

Sex/Gender

Male

Inclusion criteria

Inclusion criteria: 1.A child with a classic splice site mutation in CREBBP (NM_004380.3:c.976-1G>T) and his parents;

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Exome sequencing and RNAseq;	—

Countries

China

Contacts

Public ContactYu Sun

Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

y.sun@live.com+86 25 25076466

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 19, 2026