Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

Not Applicable

• Conditions: Peutz-Jeghers Syndrome
• Interventions: Behavioral: Second generation sequencing; Behavioral: 16s rRNA gene sequencing

• Registration Number: NCT03806075
• Lead Sponsor: Yiqi Du

Brief 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.

Study Timeline

• Study Start: 2018-03-01
• Status Verified: 2019-01
• Study First Submitted: 2019-01-13
• Study First Submitted QC: 2019-01-15
• Last Update Submitted: 2019-01-15
• Study First Posted: 2019-01-16
• Last Update Posted: 2019-01-16
• Primary Completion: 2021-09-01
• Study Completion: 2021-09-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

1. Subject with ages from 18-70 years old.
2. Subject diagnosed with Peutz-Jeughers syndrome.
3. Subject without hypertension, diabetes and other gastrointestinal diseases.
4. The consent form has been signed.

Exclusion Criteria

1. Subject is younger than 18 years or older than 70 years.
2. Subject with hypertension,diabetes and other gastrointestinal diseases.
3. Subject taken or adminstered medicine associated with digestive function during latest 1 month.
4. Pregnant women.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Peutz-Jeghers patients	Second generation sequencing	All Peutz-Jeghers patients meet the clinical criteria
Health persons	16s rRNA gene sequencing	Those without Peutz-Jeghers syndrome
Peutz-Jeghers patients	16s rRNA gene sequencing	All Peutz-Jeghers patients meet the clinical criteria

Primary Outcome Measures

Name	Time	Method
Mutation of gene associated with Peutz-Jeghers syndrome	2 years	Mutation of gene associated with Peutz-Jeghers syndrome, including STK11, APC,PMS1,PMS2 et al.

Secondary Outcome Measures

Name	Time	Method
Intestinal microbiota of patients with PJS	1year	Identify the variation of intestinal microbiota of patients with PJS

Trial Locations

Locations (1)

Changhai Hospital; 🇨🇳 Shanghai, China