A pathogenic mosaic mutation analysis of the Japanese patients with vascular malformations

A pathogenic mosaic mutation analysis of the Japanese patients with vascular malformations - A mutation analysis of vascular malformations

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000035915

Enrollment

100

Registered

2019-02-18

Start date

2019-02-18

Completion date

Unknown

Last updated

2026-06-29

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

Conditions

Vascular malformations and PIK3CA-related Overgrouwht Spectrum

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Vascular malformations, PROS (PIK3CA-related overgrowth spectrum)

Exclusion criteria

Exclusion criteria: Other vascular malformations (lymphedema, HHT or familial vascular malformations) Known history of HBV, HCV, HTLV and HIV infection Patient who is judged inappropriate to participate in this study by the investigators

Design outcomes

Primary

Measure	Time frame
A pathogenic mosaic mutations analysis of the Japanese patients with vascular malformations and PROS(PIK3CA-related overgrowth Spectrum)	—

Countries

Japan

Contacts

Public ContactMichio Ozeki

Gifu University Medical department

rinri@gifu-u.ac.jp058-230-6059

Outcome results