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
90 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader 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 program aims to close cancer screening gaps for rural families
Disease control ENROLLING_BY_INVITATIONThis study tests a two-year follow-up program for 200 adults with hereditary cancer syndromes like BRCA or Lynch syndrome. Participants get personalized care plans and regular check-ins with a genetics doctor to help them follow cancer prevention and screening guidelines. The goa…
Phase: NA • Sponsor: University of Vermont Medical Center • Aim: Disease control
Last updated Jun 27, 2026 09:01 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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Blood test could spot hidden cancers in High-Risk patients
Diagnosis OngoingThis study is developing a blood test to find early-stage tumors in people with hereditary cancer syndromes (high genetic risk for cancer). Researchers will collect blood samples and medical data from about 1,400 participants across Canada. They will also interview patients and d…
Sponsor: University Health Network, Toronto • Aim: Diagnosis
Last updated Jun 27, 2026 08:12 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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Virtual reality goggles could ease cancer Patients' procedure fears
Symptom relief OngoingThis study tests whether using a virtual reality headset during PICC line placement can reduce anxiety and pain in cancer patients. About 120 adults will be randomly assigned to either receive VR plus standard care or standard care alone. The goal is to see if this non-drug appro…
Phase: NA • Sponsor: Istituto Oncologico Veneto IRCCS • Aim: Symptom relief
Last updated Jun 27, 2026 12:30 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 web tool aims to spread genetic cancer alerts in families
Knowledge-focused OngoingThis study is creating a web-based program to help people with hereditary cancer mutations share their genetic test results with family members. The goal is to increase awareness among at-risk relatives so they can take steps to prevent cancer. The program is designed for patient…
Sponsor: M.D. Anderson Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 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
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Video lessons may boost cancer gene knowledge
Knowledge-focused OngoingThis study looks at whether short educational videos can help people with inherited cancer gene mutations learn more about their condition. About 43 adults who carry mutations in genes like BRCA1 or BRCA2 will watch the videos and then take a quiz. The goal is to see if this simp…
Sponsor: M.D. Anderson Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Can a phone call and online tools save lives? new study aims to boost cancer screening in High-Risk patients
Knowledge-focused ENROLLING_BY_INVITATIONThis study tests two simple, scalable methods to help people with inherited cancer risk follow through on recommended screenings. Researchers will provide online educational resources and personalized phone outreach to 900 participants. The goal is to see if these approaches impr…
Phase: NA • Sponsor: University of Washington • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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Can a chatbot help young people navigate cancer risk?
Knowledge-focused OngoingThis study is testing a chatbot and online portal called AYA-RISE to help adolescents and young adults (ages 12-24) who have genetic conditions that raise their cancer risk. The goal is to see if the tool helps them communicate with family and doctors and make informed decisions …
Phase: NA • Sponsor: Dana-Farber Cancer Institute • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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Deep dive into DNA: new study hunts for hidden hereditary cancer clues
Knowledge-focused OngoingThis study looks at the complete DNA and RNA of 10 people and their families who are at high risk for hereditary cancer but have no known genetic cause. Researchers will use whole genome sequencing and tumor analysis to discover new genetic changes that may lead to cancer. The go…
Sponsor: University Health Network, Toronto • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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New study tests tools to help families share cancer genetic results
Knowledge-focused OngoingThe IMPACT Study is testing two online tools—GeneSHARE and LivingLabReport—to help people with inherited cancer gene variants share their results with family members and follow cancer screening guidelines. The study involves 720 adults who have a genetic variant linked to cancers…
Phase: NA • Sponsor: Vanderbilt-Ingram Cancer Center • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:58 UTC
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Quick genetic test for unborn babies hits a snag: study withdrawn
Knowledge-focused TerminatedThis study aimed to see if a rapid whole genome sequencing test on amniotic fluid could give faster genetic diagnoses for fetuses with suspected genetic diseases. Researchers planned to compare results from amniotic fluid and blood samples from up to 90 families. However, the stu…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:00 UTC