Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

NCT03806075 | Unknown DMC

• 1 other identifier: 2017JZ13
• Study Type: interventional
• Target: 150
• Locations: 1 country
• Sites: 1

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.

Conditions

Peutz-Jeghers Syndrome

Keywords

Second generation gene sequencing, gut microbiota, Gastrointestinal polyp syndrome

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Intestinal microbiota of patients with PJS

  1year

Other Outcomes (1)

• The association of STK11 with intestinal microbiota of patients with PJS

  1 year

Study Arms (2)

Peutz-Jeghers patients

EXPERIMENTAL

All Peutz-Jeghers patients meet the clinical criteria

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

Health persons

PLACEBO COMPARATOR

Those without Peutz-Jeghers syndrome

Behavioral: 16s rRNA gene sequencing

Interventions

Second generation sequencing BEHAVIORAL

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

Peutz-Jeghers patients

16s rRNA gene sequencing BEHAVIORAL

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

Health persons; Peutz-Jeghers patients

Eligibility Criteria

• Age: 5 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Yiqi Du: lead

Study Sites (1)

Changhai Hospital

Shanghai, 200433, China

RECRUITING

MeSH Terms

Conditions

Peutz-Jeghers Syndrome

Condition Hierarchy (Ancestors)

Neoplastic Syndromes, Hereditary; Neoplasms; Intestinal Polyposis; Intestinal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lentigo; Melanosis; Hyperpigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Yiqi Du, Ph.D.

  Changhai Hospital

  STUDY CHAIR

Central Study Contacts

Yuxin Wang, Ph.D.

CONTACT

86-18721819083; 18721819083@163.com

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Model Details: 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.

Study Record Dates

• First Submitted: January 13, 2019
• First Posted: January 16, 2019
• Study Start: March 1, 2018
• Primary Completion: September 1, 2021
• Study Completion: September 1, 2021
• Last Updated: January 16, 2019

Record last verified: 2019-01

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)