Mismatch repair cancer syndrome 1
MONDO:0010159An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
Also known as: BTP1 syndrome, MLH1-related constitutional mismatch repair deficiency syndrome, MMRCS1, Turcot Syndrome, brain tumor-polyposis syndrome 1, mismatch repair cancer syndrome 1, CNS tumors with familial polyposis of the colon, CNS tumours with familial polyposis of the colon
68 clinical trials for this condition and its sub-types, 34 tagged with Mismatch repair cancer syndrome 1 itself.
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Watch and wait: could immunotherapy let some GI cancer patients avoid surgery?
Disease control Recruiting nowThis study looks at people with early-stage gastrointestinal cancers that have a mismatch repair deficiency, a feature that can make tumors respond well to immunotherapy. Part A is a registry that tracks all such patients, whether they have surgery or immunotherapy. Part B follow…
Sponsor: University Hospital, Basel, Switzerland • Aim: Disease control
Last updated Sep 20, 2026 00:00 UTC
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New pill targets tough cancers with genetic flaw
Disease control Recruiting nowThis study tests an experimental oral drug, GSK5460025, alone or with other cancer drugs, in adults whose solid tumors have specific genetic changes (dMMR or MSI-H). The goal is to see if the drug can shrink tumors and to check its safety. About 47 people with advanced cancers th…
Phase 1/2 • Sponsor: GlaxoSmithKline • Aim: Disease control
Last updated Sep 18, 2026 00:00 UTC
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Can immunotherapy plus hormones spare the womb in early endometrial cancer?
Disease control Recruiting nowThis trial is investigating whether combining an immunotherapy drug (a PD-1 inhibitor like sintilimab or pembrolizumab) with progesterone therapy can help young women with early-stage, mismatch repair-deficient (MMRd) endometrial cancer achieve complete remission while preserving…
Sponsor: Peking University People's Hospital • Aim: Disease control
Last updated Aug 12, 2026 00:00 UTC
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New combo may let some colon cancer patients skip surgery
Disease control Recruiting nowThis study tests two drugs, toripalimab and celecoxib, in people with a specific type of colorectal cancer (dMMR or MSI-H) that has not spread far. The goal is to see if the treatment can make the tumor disappear completely, so some patients might not need surgery. About 105 adul…
Phase 2 • Sponsor: Sun Yat-sen University • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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New pill-and-immunotherapy cocktail takes on advanced tumors
Disease control Recruiting nowThis study tests an experimental oral drug called Alintegimod (7HP349) combined with two standard immunotherapies (ipilimumab and nivolumab) in people with advanced solid tumors like melanoma, lung, kidney, and liver cancers. The trial has two parts: first, finding a safe dose (p…
Phase 1/2 • Sponsor: 7 Hills Pharma, LLC • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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New hope for advanced cancers: experimental drug EIK1005 enters human trials
Disease control Recruiting nowThis study tests a new drug called EIK1005, alone or with another drug (pembrolizumab), in people with advanced solid tumors that have not responded to other treatments. The goal is to find a safe dose and see if the drug shrinks tumors. About 160 adults with certain cancer types…
Phase 1/2 • Sponsor: Eikon Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Radioactive 'Smart Bomb' targets cancer in new human trial
Disease control Recruiting nowThis early-phase trial is testing a new drug called 177Lu-RAD204, which is a radioactive antibody designed to seek out and destroy cancer cells that have a protein called PD-L1 on their surface. The study will involve 30 adults with advanced solid tumors (like lung, breast, or sk…
Early phase 1 • Sponsor: Radiopharm Theranostics, Ltd • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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New drug combo aims to shrink tough colorectal tumors before surgery
Disease control Recruiting nowThis phase 2 trial is testing whether giving the immunotherapy drug toripalimab, with or without the anti-inflammatory drug celecoxib, before surgery can improve outcomes for people with a specific type of colorectal cancer (dMMR/MSI-H). About 270 participants will receive the dr…
Phase 2 • Sponsor: Sun Yat-sen University • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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Blood test could spot colon cancer before it spreads
Diagnosis Recruiting nowThis study is testing a blood test (called a liquid biopsy) to see if it can find colorectal cancer, pre-cancerous growths (adenomas), and cancers linked to Lynch syndrome at an early stage. Researchers will enroll 1,200 people who have already had a colonoscopy. The goal is to s…
Sponsor: San Raffaele University • Aim: Diagnosis
Last updated Jun 27, 2026 09:11 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 study aims to unlock why lynch syndrome patients still get cancer despite surveillance
Knowledge-focused Recruiting nowThis study looks at 300 people with Lynch syndrome, a genetic condition that raises the risk of colorectal cancer. Researchers want to understand why some patients still develop cancer even with regular check-ups. They will analyze blood, gut bacteria, and hair samples to find cl…
Sponsor: San Raffaele University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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AI aims to revolutionize cancer trial enrollment for 50,000 patients
Knowledge-focused Recruiting nowThis study is testing whether an artificial intelligence (AI) tool can help match cancer patients with the right clinical trials. Researchers will enroll up to 50,000 people with various cancers to see if the AI improves trial enrollment rates and patient outcomes. The goal is to…
Sponsor: Massive Bio, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC