NCT03806075

Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

Molecular Typing and Precise Prevention and Treatment of Peutz-Jeghers Syndrome

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 150 (estimated)
• Sponsor: Yiqi Du · Academic / Other
• Sex: All
• Age: 5 Years – 70 Years
• Healthy volunteers: Accepted

Summary

The mutation of STK11 has been regcognized to be the major cause of Peutz-Jeghers syndrome (PJS).The aim of this study was to confirm the mutation rate of gene associated with gastrointestinal malignancies,including STK11, APC,PMS1,et al. Furtherly, the investigators analyze the association of STK11 with gut microbiota.

Detailed description

All patients diagnosed as PJS were enrolled and accepted second generation gene sequencing with their blood specimens. Then all patients allocated into gene mutation group and no gene mutation group according to if the cases accompany with gene mutation of STK11.Also, health persons were enrolled and a case controlled study will be carried out.All patients and health persons accepted 16s rRNA sequencing with their feces specimens.

Conditions

• Peutz-Jeghers Syndrome

Interventions

Type	Name	Description
BEHAVIORAL	Second generation sequencing	Firstly, all Peutz-Jeghers patients accept second generation gene sequencing with their blood specimen
BEHAVIORAL	16s rRNA gene sequencing	Secondly, All patients and Health persons accepted 16s rRNA gene sequencing with their feces specimen

Timeline

• Start date: 2018-03-01
• Primary completion: 2021-09-01
• Completion: 2021-09-01
• First posted: 2019-01-16
• Last updated: 2019-01-16

Locations

1 site across 1 country: China