Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

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

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT03806075

Enrollment

150

Registered

2019-01-16

Start date

2018-03-01

Completion date

2021-09-01

Last updated

2019-01-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Peutz-Jeghers Syndrome

Keywords

Second generation gene sequencing, gut microbiota, Gastrointestinal polyp syndrome

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.

Interventions

BEHAVIORALSecond generation sequencing

Firstly, all Peutz-Jeghers patients accept second generation gene sequencing with their blood specimen

BEHAVIORAL16s rRNA gene sequencing

Secondly, All patients and Health persons accepted 16s rRNA gene sequencing with their feces specimen

Study design

Allocation

NON_RANDOMIZED

Intervention model

PARALLEL

Primary purpose

SUPPORTIVE_CARE

Masking

NONE

Intervention 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.

Eligibility

Sex/Gender

ALL

Age

5 Years to 70 Years

Healthy volunteers

Yes

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
Intestinal microbiota of patients with PJS	1year	Identify the variation of intestinal microbiota of patients with PJS

Other

Measure	Time frame	Description
The association of STK11 with intestinal microbiota of patients with PJS	1 year	The association of STK11 with intestinal microbiota of patients with PJS

Countries

China

Contacts

Primary ContactYuxin Wang, Ph.D.

18721819083@163.com86-18721819083

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026