Mismatch repair cancer syndrome
MONDO:0031219A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
Also known as: constitutional mismatch repair deficiency syndrome
58 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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New combo therapy aims to shrink Hard-to-Treat colorectal tumors before surgery
Disease control Not yet recruitingThis study tests whether giving immunotherapy drugs (nivolumab with or without ipilimumab) or immunotherapy plus radiotherapy before surgery can improve outcomes for people with a specific genetic type of colorectal cancer called MSI-H/dMMR. About 114 participants will be randoml…
Phase: PHASE2 • Sponsor: Fudan University • Aim: Disease control
Last updated Jun 27, 2026 09:04 UTC
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Sound waves and immunotherapy join forces against deadly brain tumor
Disease control Not yet recruitingThis early-phase study tests whether combining focused ultrasound with the immunotherapy drug pembrolizumab is safe and feasible for people with recurrent glioblastoma, a severe brain cancer. Only 8 participants with a specific genetic feature (mismatch repair deficiency) will be…
Phase: PHASE1 • Sponsor: Jennifer Leddon • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
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Could a drug combo replace the knife for some endometrial cancers?
Disease control Not yet recruitingThis study tests two immunotherapy drugs (iparomlimab and tuvonralimab) in 30 women with a specific type of endometrial cancer that is mismatch repair-deficient. The goal is to see if the treatment can make the cancer disappear or shrink enough to avoid surgery. Participants must…
Phase: PHASE2 • Sponsor: Women's Hospital School Of Medicine Zhejiang University • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New combo therapy aims to wipe out stomach cancer before surgery
Disease control Not yet recruitingThis phase 2 trial tests two different drug combinations given before surgery for people with a specific type of stomach cancer (dMMR/MSI-H). Participants will receive the immunotherapy drug adebrelimab plus either chemotherapy or another immunotherapy drug (SHR-8068). The goal i…
Phase: PHASE2 • Sponsor: Shanghai Zhongshan Hospital • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New hope for stomach cancer: immunotherapy combo targets resistant tumors
Disease control Not yet recruitingThis phase 2 trial will test a combination of immunotherapy drugs and chemotherapy given before surgery for people with a specific genetic subtype of stomach cancer (dMMR/MSI-H). The study aims to see how well this approach clears the tumor and to understand why some patients do …
Phase: PHASE2 • Sponsor: Shanghai Zhongshan Hospital • Aim: Disease control
Last updated Jun 27, 2026 08:08 UTC
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AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
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Liquid biopsies may let lynch syndrome patients skip half their colonoscopies
Diagnosis Not yet recruitingThis study tests whether annual liquid biopsies (from blood, urine, stool, and vaginal swabs) can safely replace colonoscopies every 18 months for people with Lynch syndrome. 2,000 participants will be split into two groups: one gets standard care (colonoscopy every 18 months), t…
Phase: NA • Sponsor: UNICANCER • Aim: Diagnosis
Last updated Jun 27, 2026 08:13 UTC
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Stomach cancer study may spare some patients unnecessary surgery
Knowledge-focused Not yet recruitingThis study looks at whether a tumor's DNA repair status (MMR) changes how well the presence of cancer cells in lymph vessels predicts spread to lymph nodes in stomach cancer. Researchers will review medical records of 3,000 patients who had surgery. The goal is to improve risk as…
Sponsor: Shanghai Zhongshan Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC