Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

Yiqi Du

Status: Unknown

Conditions: Peutz-Jeghers Syndrome

Treatments: Behavioral: Second generation sequencing; Behavioral: 16s rRNA gene sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT03806075

2017JZ13

Details and patient eligibility

About

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 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.

Enrollment: 150 estimated patients

Sex: All

Ages: 5 to 70 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Supportive Care

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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150 participants in 2 patient groups, including a placebo group

Peutz-Jeghers patients

Experimental group

Description:

All Peutz-Jeghers patients meet the clinical criteria

Treatment:

Behavioral: 16s rRNA gene sequencing

Behavioral: Second generation sequencing

Health persons

Placebo Comparator group

Description:

Those without Peutz-Jeghers syndrome

Treatment:

Behavioral: 16s rRNA gene sequencing