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.
Follow this condition — get notified about new trialsSub-types
Broader categories
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New drug aims to outsmart resistant colorectal cancer
Disease control OngoingThis trial tests a new drug called Cadonilimab in 28 people with advanced colorectal cancer that has not responded to standard immunotherapy. The drug is a bispecific antibody that targets two immune checkpoints (PD-1 and CTLA-4) to potentially reactivate the immune system agains…
Phase: PHASE1, PHASE2 • Sponsor: Sun Yat-sen University • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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Childhood cancer immunotherapy trial pulled before it started
Disease control TerminatedThis study was designed to test two immunotherapy drugs, nivolumab and ipilimumab, in children and young adults with cancers that returned or didn't respond to treatment and had many genetic mutations. The goal was to see if the drug combination was safe and could shrink tumors. …
Phase: PHASE1 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 13:08 UTC
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New combo therapy targets cancer's DNA repair weakness
Disease control OngoingThis study tests a combination of two drugs, avelumab and M6620, in people with advanced solid tumors that have spread or can't be removed by surgery. The tumors must have a specific DNA repair defect. The goal is to find the safest dose and see if the combination can help contro…
Phase: PHASE1, PHASE2 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 13:07 UTC
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Immune cell therapy shows promise for tough cancers
Disease control OngoingThis phase 2 study tests a personalized immune cell therapy called tumor-infiltrating lymphocytes (TIL) in 20 people with advanced solid cancers (like stomach, colon, or pancreatic cancer) that have not responded to standard treatments. Patients first receive chemotherapy to prep…
Phase: PHASE2 • Sponsor: Udai Kammula • Aim: Disease control
Last updated Jun 27, 2026 13:01 UTC
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New combo aims to unleash immune system against tough ovarian cancer
Disease control OngoingThis study tests whether a two-drug combination can help the immune system attack ovarian cancer that has returned after standard treatments. The drugs are E7777, which removes certain immune cells that block the body's defenses, and pembrolizumab, which reactivates cancer-fighti…
Phase: PHASE1, PHASE2 • Sponsor: Alexander B Olawaiye, MD • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Could an immune booster help kids fight deadly brain cancer?
Disease control OngoingThis early-stage trial is testing the safety and potential benefit of pembrolizumab, an immunotherapy drug, in 71 children whose brain tumors (like DIPG, high-grade gliomas, or medulloblastoma) have come back or not responded to standard treatments. The drug works by helping the …
Phase: PHASE1 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 12:34 UTC
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New drug combo targets Hard-to-Treat cancers in early trial
Disease control OngoingThis early-phase trial tests a new drug called HRO761, alone or combined with pembrolizumab or irinotecan, in people with advanced solid tumors that have high microsatellite instability (MSI-high) or mismatch repair deficiency (dMMR). The main goals are to check safety and find t…
Phase: PHASE1 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New drug duo takes on Treatment-Resistant cancers
Disease control OngoingThis phase 2 trial tests whether combining two immunotherapy drugs, nivolumab and relatlimab, can shrink or control advanced solid tumors with a specific genetic feature (MSI-H) that have stopped responding to prior immunotherapy. About 38 adults with these hard-to-treat cancers …
Phase: PHASE2 • Sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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Could keytruda tame tough prostate cancers?
Disease control OngoingThis phase 2 study tests pembrolizumab (Keytruda) in 40 men with metastatic castration-resistant prostate cancer that has specific genetic flaws (mismatch repair deficiency or CDK12 inactivation). The goal is to see if the drug can shrink tumors or slow the cancer. Researchers wi…
Phase: PHASE2 • Sponsor: VA Office of Research and Development • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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Cancer-Killing virus combined with immunotherapy shows promise in advanced tumors
Disease control OngoingThis Phase 2 trial tests a genetically modified herpes virus (RP1) alone or with the immunotherapy drug nivolumab in people with advanced solid tumors, including melanoma, non-small cell lung cancer, and certain skin cancers. The study aims to see if the combination is safe and c…
Phase: PHASE2 • Sponsor: Replimune, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:05 UTC
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New pill targets aggressive tumors with genetic flaw
Disease control OngoingThis early-phase study tests an experimental oral drug (GSK4418959) in adults with advanced solid tumors that have specific genetic changes (dMMR or MSI-H). The drug works by blocking a protein (WRN) that these tumors need to survive. The study aims to see if the drug, alone or w…
Phase: PHASE1, PHASE2 • Sponsor: GlaxoSmithKline • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
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Experimental cocktail aims to revive immune attack on Hard-to-Treat cancers
Disease control OngoingThis study tests a combination of an experimental immune booster (N-803) with standard checkpoint inhibitors in people with advanced solid tumors (like lung, bladder, or skin cancer) whose disease progressed after prior immunotherapy. The goal is to see if the combo can shrink tu…
Phase: PHASE2 • Sponsor: ImmunityBio, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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New national registry aims to improve care for rare genetic polyposis syndromes
Knowledge-focused OngoingThis study is a national registry collecting data from 1500 people with familial adenomatous polyposis (FAP) and related conditions across 28 Italian centers. It aims to better understand how these diseases progress, how they are currently managed, and what factors influence outc…
Sponsor: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC