Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Peutz-Jeghers Syndrome

Intervention / Treatment
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* Behavioral: Second generation sequencing
* Behavioral: 16s rRNA gene sequencing


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subject with ages from 18-70 years old. Subject diagnosed with Peutz-Jeughers syndrome. Subject without hypertension, diabetes and other gastrointestinal diseases. The consent form has been signed. Exclusion Criteria: Subject is younger than 18 years or older than 70 years. Subject with hypertension,diabetes and other gastrointestinal diseases. Subject taken or adminstered medicine associated with digestive function during latest 1 month. Pregnant women.

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Supportive Care
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Interventional Model Description: All patients with Peutz-Jeghers were enrolled and accepted second generation gene sequencing. Then all patients allocated into gene mutation group and no gene mutation group according to if the cases accompany with gene mutation of STK11.
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Peutz-Jeghers patients<br>All Peutz-Jeghers patients meet the clinical criteria | Behavioral: Second generation sequencing<br>* Firstly, all Peutz-Jeghers patients accept second generation gene sequencing with their blood specimen<br>Behavioral: 16s rRNA gene sequencing<br>* Secondly, All patients and Health persons accepted 16s rRNA gene sequencing with their feces specimen<br>|
| Placebo Comparator: Health persons<br>Those without Peutz-Jeghers syndrome | Behavioral: 16s rRNA gene sequencing<br>* Secondly, All patients and Health persons accepted 16s rRNA gene sequencing with their feces specimen<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Mutation of gene associated with Peutz-Jeghers syndrome | Mutation of gene associated with Peutz-Jeghers syndrome, including STK11, APC,PMS1,PMS2 et al. | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Intestinal microbiota of patients with PJS | Identify the variation of intestinal microbiota of patients with PJS | 1year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Second generation gene sequencing, gut microbiota, Gastrointestinal polyp syndrome