Peutz-Jeghers Syndrome Prospective Registration Cohort Study (National registration of the Peutz-Jeghers Syndrome Subcommittee of the Japanese Society for Hereditary Tumors and the Ministry of Health, Labor and Welfare's Intractable Disease Policy Research Project "Research to improve medical standards and QOL of patients with a high incidence of gastrointestinal hamartomatous tumors in children to adults" Joint research)

UMIN ID: UMIN000053874

Registered date:15/03/2024

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Peutz-Jeghers Syndrome
• Date of first enrollment: 2024/03/15
• Target sample size: 140
• Countries of recruitment: Japan
• Study type: Observational

Outcome(s)

• Primary Outcome: Gastrointestinal endoscopy findings (Esophagogastroduodenoscopy, Colonoscopy, Enteroscopy)
• Secondary Outcome: Age, family members with the same disease, estimated date of onset, date of confirmed diagnosis, length of hospital visit, first medical institution, diagnostic medical institution, status of medical treatment received in the past year, transition of cases diagnosed under the age of 15 from the pediatric department to the adult department, medical history, drinking history, smoking history, physical activity level, employment/schooling status, diagnosis trigger, Hb, Alb, small intestine imaging examination, endoscopic treatment details, adverse events of endoscopic treatment, abdominal surgery history, history of intussusception, history of gastrointestinal malignancy, history of endometrial cancer, history of cervical cancer, history of testicular cancer, history of ovarian cancer, history of pancreatic cancer, history of breast cancer, history of lung cancer, history of other malignant tumors, presence or absence of pigment spots, history of pigment spot treatment, genetic testing history, application history for specific pediatric chronic diseases

Key inclusion & exclusion criteria

• Age minimum: Not applicable
• Age maximum: Not applicable
• Gender: Male and Female
• Exclude criteria: Patients whose consent cannot be obtained

Related Information

• Primary Sponsor: Jichi Medical University
• Secondary Sponsor: The Japanese Society for Hereditary Tumors
• Source(s) of Monetary Support: Ministry of Health, Labour and Welfare