Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome


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.

Full Title of Study: “Molecular Typing and Precise Prevention and Treatment of Peutz-Jeghers Syndrome”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Parallel Assignment
    • Primary Purpose: Supportive Care
    • Masking: None (Open Label)
  • Study Primary Completion Date: September 1, 2021

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.


  • 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

Arms, Groups and Cohorts

  • Experimental: Peutz-Jeghers patients
    • All Peutz-Jeghers patients meet the clinical criteria
  • Placebo Comparator: Health persons
    • Those without Peutz-Jeghers syndrome

Clinical Trial Outcome Measures

Primary Measures

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

Secondary Measures

  • Intestinal microbiota of patients with PJS
    • Time Frame: 1year
    • Identify the variation of intestinal microbiota of patients with PJS

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 5 Years

Maximum Age: 70 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Yiqi Du
  • Provider of Information About this Clinical Study
    • Sponsor-Investigator: Yiqi Du, Professor – Changhai Hospital
  • Overall Official(s)
    • Yiqi Du, Ph.D., Study Chair, Changhai Hospital
  • Overall Contact(s)
    • Yuxin Wang, Ph.D., 86-18721819083,

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