Peutz-Jeghers syndrome
MONDO:0008280An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.
Also known as: Jeghers-Peutz syndrome, PJS, Peutz Jeghers Syndrome, Peutz's syndrome, Peutz-Jeghers syndrome, STK11-related Peutz-Jeghers syndrome, hamartomatous intestinal polyposis, polyps and spots syndrome
42 clinical trials for this condition and its sub-types, 9 tagged with Peutz-Jeghers syndrome itself.
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Pancreas cancer screening trial enrolls 9,000 High-Risk individuals
Diagnosis Recruiting nowThis Phase 3 study is testing whether markers in pancreatic fluid and blood can detect early pancreas cancer in people with high genetic risk. Participants receive a secretin injection to collect fluid during an endoscopy. The goal is to improve early detection in those with here…
Phase 3 • Sponsor: Johns Hopkins University • Aim: Diagnosis
Last updated Jun 27, 2026 07:54 UTC
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Hunt for hidden cancer genes: families needed to unlock hereditary secrets
Knowledge-focused Recruiting nowThis study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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New registry aims to unlock secrets of pancreatic cancer
Knowledge-focused Recruiting nowThis study creates a registry of people with pancreatic diseases or a high risk for pancreatic cancer, such as those with a family history or certain genetic mutations. Researchers will collect medical information and blood samples to study how these conditions develop over time.…
Sponsor: Icahn School of Medicine at Mount Sinai • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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New quality system aims to sharpen 'Optical Biopsy' for Hard-to-Reach gut
Knowledge-focused Recruiting nowThis study aims to create a standardized quality system for confocal enteroscopy, a technique that lets doctors see cells in real time during a small bowel exam. Researchers will enroll 600 people aged 18-70 who need small bowel endoscopy, along with certified gastroenterologists…
Sponsor: Shanghai Jiao Tong University School of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC