Hereditary neoplastic syndrome

This study tests an oral drug, AV078, in people aged 12 and older with tuberous sclerosis complex (TSC) whose seizures are not controlled by standard medications. Participants are randomly assigned to receive AV078 or a placebo for 12 weeks. The goal is to see if AV078 safely red…

This early-phase trial tests whether giving healthy stem cells from the mother to a fetus diagnosed with Fanconi anemia can safely improve the baby's blood cell production. The treatment is a one-time injection into the fetus during pregnancy. The study will enroll 12 pregnant wo…

This trial tests whether adding the immunotherapy drugs cemiplimab (with or without fianlimab) to standard chemotherapy before chemoradiation can improve outcomes for people with advanced nasopharyngeal cancer. About 60 adults with non-metastatic, EBV-positive nasopharyngeal carc…

This study tests whether a common antibiotic for women's UTIs, fosfomycin-trometamol, works well for men with urinary tract infections. Current treatments can have serious side effects and increase antibiotic resistance. The trial will enroll 138 men in primary care and monitor f…

This phase 2 trial is testing a new way to treat adults newly diagnosed with a specific type of acute lymphoblastic leukemia (Ph-negative B-ALL). Instead of standard high-dose chemotherapy, patients receive a mix of low-dose chemo plus several targeted drugs (inotuzumab ozogamici…

This study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

This phase 2 trial tests a combination of two drugs—becotatug vedotin (a targeted therapy) and pucotenlimab (an immunotherapy)—as a first treatment for advanced head and neck squamous cell carcinoma. It is for patients whose cancer has returned or spread and who cannot tolerate p…

This early-stage trial tests a new drug called LP-118 alongside standard treatments for adults newly diagnosed with Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL). The study will enroll 26 people to find the safest dose and see if the combination helps control the d…

This study tests a new drug called asciminib, given with chemotherapy and later with another drug (blinatumomab), in children, teens, and young adults up to age 30 who have a type of leukemia (Ph+ or Ph-like ALL) that has come back or not responded to treatment. The goal is to fi…

This study tests two low doses of rapamycin, a drug usually used to prevent organ rejection, in 25 teenagers (ages 12-17) with familial adenomatous polyposis (FAP), a genetic condition that causes many colon polyps and raises cancer risk. The main goal is to see if the drug is sa…

This study tests a new way to treat a fast-growing blood cancer called BCR-ABL positive B-cell acute lymphoblastic leukemia. About 80 adults will receive two drugs: ponatinib pills and blinatumomab injections under the skin. The goal is to see if this combination can control the …

This Phase 2 trial tests a combination of two drugs—blinatumomab (given as a shot under the skin) and olverembatinib (a pill)—in 60 adults with Philadelphia chromosome-positive acute lymphoblastic leukemia (ALL). The goal is to see if this combo can control the disease safely. Pa…

This Phase 3 trial tests whether adding a targeted drug (Becotatug Vedotin) to standard immunotherapy and chemo-radiation can improve outcomes for people with high-risk nasopharyngeal cancer. About 514 participants will be randomly assigned to receive either the new combo or stan…

This phase 2 trial tests the drug mirdametinib, alone or with radiation, in people with NF1-related high-grade gliomas (aggressive brain tumors). It includes three groups: those with recurrent sporadic glioblastoma, newly diagnosed NF1-associated glioblastoma, and other NF1-relat…

This early-stage trial tests whether two cancer drugs, cabozantinib and selumetinib, can safely shrink plexiform neurofibromas in people aged 16 and older with neurofibromatosis type 1 (NF1). About 30 participants will receive the combination daily. The study first finds the safe…

This phase 2 trial tests whether combining olverembatinib (a targeted pill) with inotuzumab ozogamicin (an antibody-drug conjugate) can clear remaining leukemia cells in adults with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) who still have detectable …

This study tests giving an immunotherapy drug (pembrolizumab) before surgery to people with a specific type of colon cancer (dMMR). The goal is to see if the drug can shrink or eliminate the tumor so some patients may avoid surgery and instead be closely monitored. About 152 adul…

This early-phase trial tests a combination of three drugs—selumetinib, ZEN-3694, and durvalumab—in people with advanced sarcomas, including malignant peripheral nerve sheath tumors (MPNST) linked to NF1. The study first checks safety and dosing, then looks at whether the treatmen…

This 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…

This 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…

This Phase 3 trial will test whether adding anlotinib (a drug that cuts off tumor blood supply) to standard immunotherapy and chemotherapy with radiation can improve outcomes for 412 people with high-risk nasopharyngeal cancer. Participants will receive either the new combo or st…

This 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…

This 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…

This phase 3 trial will test whether a shorter course of the immunotherapy drug tislelizumab, combined with chemotherapy and radiation, works as well as a longer course for people with advanced nasopharyngeal cancer. About 418 participants will be randomly assigned to receive eit…

This early-phase trial tests an oral drug called Trineumin (PRG-N-01) in 25 adults with neurofibromatosis type II (NF2), a genetic condition that causes non-cancerous tumors on nerves. The study has two parts: first finding a safe dose, then checking if that dose can shrink tumor…

This study reviews medical records of 103 adults with Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL) who received ponatinib as their first treatment in regular care. Researchers want to see how many patients achieve a complete molecular response (undetectable leukem…

This 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 …

This early-stage trial tests an oral drug called SVG103 (Paxalisib) in 15 adults with rare brain conditions (FCD-II, TSC, or HME) that cause seizures. The main goal is to check safety and side effects, while also seeing if it reduces seizure frequency. Participants take the drug …

This study tests whether giving two drugs (pembrolizumab and MRG-003) before standard chemoradiation can shrink tumors in people with advanced nasopharyngeal cancer linked to Epstein-Barr virus. About 35 adults with stage III-IVa disease will receive 3 cycles of the drug combo, t…

This early-stage trial tests an experimental drug called ACC-1898, taken as a daily pill, in adults with advanced solid tumors (like liver, kidney, or stomach cancer) that have not responded to standard treatments. The main goals are to find a safe dose and see how the body handl…

This study will track 600 people in Korea with advanced breast cancer who are already being prescribed Talzenna. Researchers will watch for side effects and see how well the drug works in everyday medical practice, not in a strict research setting. The goal is to confirm the drug…

This study tests whether adding NG101m capsules to standard chemoradiation helps people with newly diagnosed glioblastoma live longer. About 52 adults will receive NG101m alongside usual care. The goal is to see if the combination is safe and improves 2-year survival.

This study will compare a new radioactive tracer, 18F-AmBF3TATE, to the standard tracer 68Ga-DOTATATE for PET scans in people with neuroendocrine tumors. The goal is to see if the new tracer is as good or better at finding tumors. About 51 participants will receive both tracers a…

This study tests whether a swallowable capsule camera (colon capsule endoscopy) can effectively screen for colorectal cancer in people with Lynch syndrome, a genetic condition that greatly increases cancer risk. Researchers will compare the capsule's ability to find polyps and ot…

This 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…

This study compares a new DNA sequencing platform (MGI) against the current standard (Illumina) for diagnosing hereditary cancers like breast and ovarian cancer, Lynch syndrome, and intestinal polyposis. Researchers will analyze 248 patient samples using both platforms to see if …

This phase III trial tests whether a vaccine made from a person's own immune cells can prevent cancer in 372 adults with Lynch syndrome, a genetic condition that raises cancer risk. Participants receive either the vaccine or a placebo and are monitored for tumor development. The …

This early-phase trial tests a personalized vaccine made from a person's own immune cells (dendritic cells) loaded with cancer-specific markers. The goal is to train the immune system to recognize and destroy precancerous cells in people with Lynch syndrome, who have a high risk …

This study tests whether low doses of two hormone-blocking drugs, exemestane and tamoxifen, can help prevent breast cancer in postmenopausal women at high risk. About 140 women will take one of the two drugs for a year, and researchers will measure side effects and quality of lif…

This study compares two types of nipple-sparing mastectomy: one done with a robotic arm through a small side incision, and the standard open surgery. Researchers want to see if the robotic method improves women's satisfaction, body image, and recovery over 12 months. The trial wi…

This study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…

This study tests an online tool called 'Let's Talk' designed to help people with Lynch syndrome encourage their relatives to get screened for the condition. Lynch syndrome is a genetic disorder that raises cancer risk, and only about half of close relatives currently get tested. …

This 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…

This study looks at the best way to help prostate cancer survivors learn about and get genetic testing for inherited cancer risks. About 500 participants will be randomly assigned to a digital guide, a printed guide, or standard care. Researchers will track who requests testing a…

This study will check if people with Lynch syndrome, a genetic condition that raises cancer risk, have more gum disease than the general population. Researchers will look at dental records from 25 adults with Lynch syndrome. The goal is to see if gum disease is a hidden health is…

This study tests a web-based program called Kindred that helps African American families understand their genetic cancer risk and talk about testing. About 150 people will use the tool to see if it improves knowledge and testing rates. The goal is to make genetic information more…

This study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…

This study looks at how young children with neurofibromatosis type 1 (NF1) walk, to see if simple walking tests can help doctors spot and predict movement problems early. Researchers will measure walking speed and other skills in 56 children under 6 years old. The goal is to crea…

This study tests a program to help people with inherited cancer gene mutations (like BRCA or Lynch syndrome) stick to recommended cancer screening schedules. Researchers will interview 80 female participants and provide standard care to see if this approach improves adherence and…

This study will collect blood and tumor tissue from up to 50,000 adults with hereditary or genetic-linked cancers. Researchers will use these samples to create lab-grown tumor models, like mini-tumors, to study how these cancers work and test new treatments. The goal is to better…

This study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders a…

This study will follow 100 people who need a stoma (an opening in the belly to pass stool) after surgery. Some will have their stoma site marked and get education before surgery, while others will not. The goal is to see if these steps improve quality of life and reduce problems …

This study will include 30 people newly diagnosed with glioblastoma, the most common and aggressive brain tumor. Researchers will use a special MRI technique called magnetic resonance spectroscopy (MRS) to measure chemicals in the tumor, and also test blood for certain markers. T…