Hereditary neoplastic syndrome

This study tests whether a special PET scan (68Ga-CTR-FAPI) can help surgeons remove all medullary thyroid cancer during the first surgery, aiming for a cure. About 150 newly diagnosed patients will be split into two groups: one gets surgery guided by the new scan, the other gets…

This study tests a new drug called LMP744 in people whose glioblastoma has come back after standard treatment. The drug is designed to kill cancer cells by blocking a key growth signal and interfering with DNA repair. Participants will receive the drug through a vein for 5 days e…

This study tests the drug abemaciclib, typically used for cancer, in people with neurofibromatosis type 1 (NF1) who have atypical neurofibromas that cannot be surgically removed. The goal is to find a safe dose and see if it can shrink or stabilize these tumors. Participants take…

This early-stage trial tests imatinib, a drug already used for certain cancers, in adults with a harmful RUNX1 gene mutation. The mutation causes easy bleeding and a high risk of blood cancers. The study aims to find the best dose and see if imatinib can improve platelet function…

This study tracks how well the drug Koselugo (selumetinib) works and what side effects it causes in people with Neurofibromatosis Type 1 and painful nerve tumors. About 200 patients in South Korea will be followed during their normal doctor visits. The goal is to confirm the drug…

This early-phase study tests the drug lorlatinib in children and young adults (ages 1 to 21) with newly diagnosed high-grade glioma, a fast-growing brain tumor, that has a specific genetic change (ALK or ROS1 fusion). The goal is to see if the drug can shrink or control the tumor…

This early-stage trial is testing whether specially engineered immune cells (called CAR-T and CTL cells) and a dendritic cell vaccine can safely treat people with neurofibromatosis or schwannomatosis, conditions that cause nerve tumors. The study will enroll 100 participants aged…

This early study tests a device called TheraSphere GBM in 36 people whose glioblastoma has come back after prior treatment. The device delivers tiny radioactive beads directly to the tumor to try to control it. The main goal is to check if the procedure is safe, not yet whether i…

This Phase 2 trial tests whether adding the experimental drug silevertinib to standard chemotherapy (temozolomide) helps people with a specific type of newly diagnosed glioblastoma live longer without their cancer worsening. The study includes 162 participants whose tumors have c…

This study looks at whether people with a type of throat cancer linked to the Epstein-Barr virus can safely receive lower doses of radiation after initial chemotherapy. The goal is to see if reducing radiation can still control the cancer while causing fewer long-term side effect…

This study tests a new approach for people newly diagnosed with a specific, aggressive leukemia (Ph+ ALL). It combines a single infusion of specially engineered immune cells (CAR-T cells) with a daily targeted pill (olverembatinib). The goal is to see if this powerful one-two pun…

This early-phase trial is testing the drug asciminib as a maintenance treatment for adults with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) who have already received a stem cell transplant or CAR T-cell therapy. The goal is to see if asciminib is safe …

This early-stage trial is testing whether combining two drugs—niraparib and irinotecan—can safely treat advanced solid tumors that have mutations in DNA repair genes like BRCA. The study will enroll 24 adults with various cancers, including breast, ovarian, pancreatic, and others…

This phase 2 trial is testing whether a combination of three drugs—bevacizumab, erlotinib, and atezolizumab—can safely shrink or stabilize advanced kidney cancer in people with hereditary leiomyomatosis and renal cell cancer (HLRCC) or sporadic papillary renal cell cancer. The dr…

This 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…

This Phase 3 trial tests a one-time cell therapy called IMA203 for people with advanced melanoma that has not responded to prior treatment. IMA203 is made from a patient's own immune cells and is designed to target cancer cells. The study compares IMA203 to standard treatments li…

This study tests a drug called dostarlimab in 25 people with stage II or III colon cancer that has a specific genetic feature (dMMR). The drug is given before any surgery to see if it can shrink the tumor enough that surgery may not be needed. Participants receive the drug every …

This study follows people with chronic myeloid leukemia (CML) who have already benefited from the drug asciminib in earlier Novartis trials. Researchers want to see how safe the drug is over the long term. About 347 participants will continue taking asciminib or other similar dru…

This pilot study tests whether adding APG-157 (a pastille dissolved in the mouth) to standard bevacizumab can help people with recurrent high-grade glioma. About 30 participants will take APG-157 three times daily while continuing bevacizumab. The study tracks survival, tumor res…

This program provides gallium maltolate (GaM) to adults aged 18 and older with glioblastoma that has returned or is not responding to standard treatments. The goal is to offer a possible treatment option when no others are available. Patients must be able to swallow capsules and …

This study tests whether combining two drugs, blinatumomab and asciminib, can help control Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). The trial enrolls 40 adults who are not good candidates for strong chemotherapy. Researchers will monitor safety and…

This study tests a new cancer drug, repotrectinib, combined with standard chemotherapy in children and young adults with advanced solid tumors that have spread. The goal is to find the safest dose and see if the combination can shrink tumors. Researchers will also study how the b…

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This study tests an experimental drug called REC-4881 in 67 adults with familial adenomatous polyposis (FAP), a genetic condition that causes many polyps in the colon and small intestine. The goal is to see if the drug can safely reduce the number and size of polyps, helping cont…

This study tests if the drug eRapa can slow disease progression in adults with Familial Adenomatous Polyposis (FAP), a condition that causes many polyps in the gut and raises cancer risk. About 168 participants will take eRapa or a placebo daily every other week. Researchers will…

This pilot trial tests a portable, wearable device that delivers low-intensity magnetic therapy to people with newly diagnosed glioblastoma, an aggressive brain cancer. The study will enroll 30 adults who have had surgery and are able to receive standard radiotherapy. The main go…

This study tests whether adding the chemotherapy drug capecitabine to the standard temozolomide regimen can help people with newly diagnosed glioblastoma live longer without their tumor growing. About 67 adults who have completed initial radiation and chemo will take both pills a…

This study tests whether giving the drug bevacizumab (Avastin) directly into the brain's arteries, repeated over time, is safe and effective for people with recurrent glioblastoma or anaplastic astrocytoma. The approach uses a special infusion to bypass the blood-brain barrier. A…

This early study tests if a piece of belly tissue placed in the brain during surgery can safely bypass the blood-brain barrier in people with recurrent glioblastoma, an aggressive brain cancer. Ten adults will be followed for 6 months to check for side effects like rapid tumor gr…

This phase III trial is testing whether delivering the drug bevacizumab (Avastin) directly to the brain through a catheter, along with standard chemo and radiation, can help people with newly diagnosed glioblastoma live longer. The study will enroll 432 adults with this aggressiv…

This study tests a new surgical technique for people with glioblastoma, an aggressive brain cancer. Surgeons place a piece of the patient's own tissue (from the scalp or skull lining) into the area where the tumor was removed. This tissue flap may help bypass the blood-brain barr…

This trial tests a new way to treat glioblastoma, an aggressive brain cancer. The drug cetuximab, which blocks a protein that helps tumors grow, is infused directly into the brain's arteries after temporarily opening the blood-brain barrier. Up to 33 newly diagnosed patients will…

This study tests whether adding two different drug combinations after radiation can help children and young adults (up to age 21) with high-grade gliomas, including DIPG, live longer. One group receives ribociclib plus everolimus; another gets ribociclib plus temozolomide. The go…

This early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…

This early-phase study tests a combination of two oral drugs, olaparib and ASTX727, in adults with advanced solid tumors that have mutations in genes like BRCA1, BRCA2, PALB2, ATM, or CHEK2. The main goals are to find the safest dose and to check for side effects. About 18 partic…

This early-stage trial tests a new therapy made from a patient's own immune cells, modified to better target and attack glioblastoma and other high-grade gliomas. The cells are designed to recognize a protein called CD70 found on these tumors. The main goals are to see if the tre…

This 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…

This study tests a combination of two drugs, blinatumomab and ponatinib, along with standard chemotherapy, in people with a specific type of acute lymphoblastic leukemia (ALL) that has a genetic change called the Philadelphia chromosome. The goal is to see if this mix can better …

This phase 2 trial tests an oral drug called HLX-1502 in people aged 12 and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas—nerve tumors that can cause pain, disfigurement, or other problems. The study will enroll 25 participants and measure whether the…

This study tests whether adding the drug tarlatamab to standard radiation therapy is safe for people with cancers that have a protein called DLL3, including melanoma, lung cancer, and glioblastoma. About 30 adults with advanced or returning cancers will receive tarlatamab infusio…

This early-stage trial tests whether a specially engineered herpes virus (G207) is safe to inject directly into the brain tumors of children whose cancer has returned. Up to 24 children aged 3 to 21 will receive the virus, and some will also get a small dose of radiation to help …

This study is testing a new combination of low-intensity chemotherapy and targeted immunotherapy for people newly diagnosed with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). Participants will receive a third-generation TKI drug (olverembatinib) and may…

This trial tests a new approach for glioblastoma, an aggressive brain cancer. A device implanted in the skull uses ultrasound to temporarily open the blood-brain barrier, allowing immune-boosting drugs to reach the tumor. The study involves 25 adults who have completed radiation,…

This program provides mirdametinib to individual patients with serious, life-threatening conditions like neurofibromatosis type 1 tumors or other MAP-K pathway diseases who have no other treatment options and cannot join a clinical trial. Each case requires approval from the comp…

This early study tests whether a drug called IMLYGIC, made from a modified herpes virus, can be safely injected into painful or disfiguring skin tumors in adults with NF1. Ten participants will receive up to 8 injections over 4 months. The goal is to see if the treatment is toler…

This early-stage study tests an experimental drug called IMGS-001 in about 105 people with advanced solid tumors that have come back or not improved after standard treatments. The goal is to find a safe dose and see if the drug can shrink tumors. The study has two parts: first, t…

This study tests several experimental drugs in people with NF2-related schwannomatosis, a genetic condition that causes non-cancerous tumors on nerves. The goal is to see if these drugs can shrink tumors and control the disease. About 109 participants will receive one of three dr…

This study tests whether a ketogenic (high-fat, low-carb) diet can help people with newly diagnosed glioblastoma, an aggressive brain cancer, live longer. About 170 adults will be randomly assigned to either a ketogenic diet or standard dietary guidance, while all receive standar…

This study tests whether a smartphone app can help people with chronic kidney disease (CKD) follow the latest KDIGO treatment guidelines. Researchers will enroll 80 adults aged 16-30 with CKD who own a smartphone. The app provides reminders, education, and care recommendations to…

This phase 3 study tests whether adding the experimental drug olverembatinib to standard chemotherapy works better than the usual targeted therapy (a TKI) plus chemotherapy for people newly diagnosed with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). Th…

This study tests a new treatment using natural killer (NK) cells, a type of immune cell, for adults with aggressive brain tumors that have not responded to standard therapies. The NK cells are grown in a lab and then given through a vein and directly into the brain. The main goal…

This pilot study tests a new approach called sonodynamic therapy for people with recurrent glioblastoma, a type of brain cancer that has come back. The treatment combines an investigational drug (5-ALA) with low-intensity focused ultrasound to target and damage tumor cells before…

This early-stage study tests whether a new type of immune cell therapy (CAR T-cells) is safe for people with glioblastoma, a fast-growing brain cancer that has come back or not responded to standard treatment. The therapy is given directly into the fluid around the brain. The mai…

This Phase 2 trial is testing tislelizumab, an immunotherapy drug, in 200 people with advanced solid tumors that have specific genetic changes (MSI-H or dMMR) and have not responded to prior treatments. The drug works by blocking PD-1, helping the immune system recognize and atta…

This early-phase trial tests a new treatment for colorectal cancer that has spread to the lining of the abdomen. It combines specially engineered natural killer (NK) cells, given both into a vein and directly into the belly, with the drug cetuximab. The goal is to find the safest…

This trial is testing whether giving the immunotherapy drug pembrolizumab before surgery can improve outcomes for people with high-risk stage 2 or stage 3 colorectal cancer that has a specific genetic feature called mismatch repair deficiency. About 88 participants will receive p…

This early-stage trial is testing a new cancer vaccine called BNT116, alone or with other drugs, in people with advanced non-small cell lung cancer. The main goal is to find a safe dose and check for side effects. About 320 participants will be enrolled across several groups, inc…

This study tests a combination of two drugs, trametinib and azacitidine, for children newly diagnosed with juvenile myelomonocytic leukemia (JMML), a rare blood cancer. Lower-risk patients get just these two drugs, while higher-risk patients also receive standard chemotherapy. Th…

This 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…

This study tests a drug called mirdametinib in adults with neurofibromatosis type 1 (NF1) who have skin tumors called cutaneous neurofibromas. The goal is to find a safe dose and see if the drug can shrink these tumors. About 24 people will take the drug daily or on a three-week-…

This phase 2 trial tests a new way to deliver the cancer drug cetuximab directly into the brain's arteries, along with mannitol to open the blood-brain barrier, plus targeted radiation. It is for adults with recurrent glioblastoma or other aggressive brain tumors that have high l…

This early study tests a combination approach for recurrent glioblastoma, an aggressive brain cancer. The treatment uses focused ultrasound (NaviFUS) to temporarily open the blood-brain barrier, allowing the drug Avastin (bevacizumab) to reach the tumor more effectively. Ten adul…

This Phase 3 trial tests whether combining the drug Avastin with a focused ultrasound system (NaviFUS) can improve outcomes for people with recurrent glioblastoma, an aggressive brain cancer. The ultrasound temporarily opens the blood-brain barrier to let more drug reach the tumo…

This early study tests a personalized mRNA vaccine (mRNA-0523-L001) for people with advanced endocrine tumors like adrenal cancer, medullary thyroid cancer, and pancreatic neuroendocrine tumors who have no standard treatment left. The vaccine is made to target unique mutations in…

This 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…

This study tests a special stem cell transplant for children and adults with blood cancers like leukemia. The transplant uses stem cells that have had certain immune cells removed to lower the risk of graft-versus-host disease, a serious complication. About 70 participants will r…

This study tests a gene therapy called HSV-tk, given with valacyclovir, alongside standard radiation and chemotherapy for newly diagnosed glioblastoma or anaplastic astrocytoma. The goal is to see if this combination improves overall survival. About 62 participants will be follow…

This study tests a gene therapy (HSV-tk) plus valacyclovir, along with radiation and chemotherapy, in people whose glioblastoma or high-grade astrocytoma has returned. The goal is to see if this combination can improve survival. About 62 participants will receive the treatment di…

This early-phase study tests the safety and best dose of asciminib, a daily pill, in adults with a certain type of leukemia (Ph+ ALL) who have already received a stem cell transplant or CAR T therapy. The goal is to see if taking asciminib afterward can help prevent the cancer fr…

This early-stage trial is testing a new daily oral medication called ETX-19477 in about 120 adults with advanced solid tumors, including breast, ovarian, prostate, and other cancers. The drug blocks a protein called PARG to interfere with cancer cells' ability to repair themselve…

This phase 3 trial tests whether taking the drug olaparib for one year works as well as taking it for two years to keep ovarian cancer from coming back. The study includes 880 people with advanced ovarian cancer (stage III or IV) who have a BRCA mutation or similar DNA repair pro…

This study tests a new drug, KESONOTIDE™, in people with advanced solid tumors like prostate, breast, lung, ovarian, brain, pancreas, or skin cancer. The trial has two phases: first, finding the safest dose, then testing that dose in a larger group. About 80 participants will be …

This early-stage trial is testing whether a combination of two natural substances, deoxycytidine and deoxythymidine, is safe for people with telomere biology disorders. These rare genetic conditions cause premature aging, bone marrow failure, and lung scarring. Up to 36 participa…

This study tests a nasal spray drug called NEO100 (perillyl alcohol) in people with aggressive brain tumors (grade III or IV gliomas) that have come back or worsened. The trial has two phases: first to find the safest dose, then to see if it helps patients live longer. About 49 p…

This study tests an oral drug called NEO212 in people with specific brain tumors (astrocytoma, glioblastoma) or cancers that have spread to the brain. The goal is to find the safest dose and see if it helps control tumor growth. About 134 adults will take NEO212 alone or with sta…

This clinical trial is testing a new treatment approach for adults newly diagnosed with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). The treatment combines targeted drugs (olverembatinib and venetoclax) with reduced-intensity chemotherapy, followed by …

This study tests a software platform called Nest that helps young adults (ages 18-49) with inherited cancer risks manage their care. Participants will use the tool to track screening and share information with doctors and family. Researchers will compare users to non-users to see…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This study tests a personalized surveillance plan for people with familial adenomatous polyposis (FAP) who have had their colon removed. Instead of a fixed schedule, the timing of follow-up endoscopies (every 6 months to 2 years) is based on each person's polyp burden and past tr…

This study tests a personalized surveillance plan for people with familial adenomatous polyposis (FAP), a condition that raises the risk of polyps and cancer in the stomach and duodenum. Participants will have endoscopic exams at intervals tailored to their polyp severity, rangin…

This study looks at whether offering hereditary cancer screening alongside standard prenatal genetic tests is practical and acceptable. About 1000 pregnant or preconception patients will be offered both tests. The goal is to see how many complete the cancer screening and how they…

This expanded access program offers a special stem cell purification technique (CD34+ selection) for patients undergoing stem cell transplants. The method removes many T-cells from the donated stem cells, which lowers the risk of a serious complication called graft-versus-host di…

This 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…

This phase 2 trial is testing whether chemotherapy alone (temozolomide) works as well as the standard combination of chemotherapy plus radiation for elderly and frail patients with newly diagnosed glioblastoma. The study aims to enroll 107 patients aged 65 and older with poor per…

This study tests a new daily pill called YCT-529 for male contraception. It involves 88 healthy men who have decided not to have children. The pill is taken for 28, 90, or 180 days to check its safety, side effects, and how well it works. This is an early step toward giving men a…

This Phase 3 trial tests a full-spectrum cannabis extract (YCJ-01) in 84 people aged 2 to 65 with tuberous sclerosis complex (TSC) whose seizures have not been controlled by standard treatments. Participants will receive either the cannabis extract or a placebo for two months. Th…

This early-phase trial tests a new type of CAR T-cell therapy for people with acute lymphoblastic leukemia (ALL) that has come back or not responded to standard treatments. The therapy uses a patient's own immune cells, which are modified in a lab to better recognize and attack l…

This study tests a new drug called paxalisib combined with standard chemotherapy (temozolomide) in people with high-grade brain tumours like glioblastoma. The goal is to find a safe dose and see if the combination can slow tumour growth. About 64 participants will be enrolled, an…

This study tests whether combining two drugs, niraparib and dostarlimab, can control advanced cancers that have spread to the brain. It includes 120 adults with certain cancer types like BRCA-mutated or lung cancers. The goal is to see if the treatment shrinks or stabilizes brain…

This phase 2 trial tests a special stem cell transplant for people with inherited bone marrow failure disorders like Fanconi anemia. The transplant uses a technique to remove certain immune cells, aiming to reduce the need for long-term immune-suppressing drugs and lower infectio…

This early-stage trial is testing a combination of two chemotherapy drugs (melphalan and BCNU) plus vitamins B12b and C, followed by an infusion of the patient's own stem cells. The goal is to see if this approach is safe for people with metastatic pancreatic or breast cancer, es…

This early-stage trial tests a new type of immunotherapy for recurrent glioblastoma, an aggressive brain cancer. Researchers take a patient's own T cells and genetically engineer them to recognize and attack cancer cells that carry a protein called GPC3. The cells also include a …

This early-phase trial tests a new drug called Sapu003, given with or without exemestane, in adults with advanced cancers that respond to mTOR pathways—including certain breast, kidney, liver, and neuroendocrine tumors. The main goal is to find the safest dose and check for side …

This early-phase study tests a new drug called BL-B01D1 in people with advanced lung cancer or other solid tumors that have spread or cannot be removed. The main goals are to check the drug's safety, find the best dose, and see if it helps shrink tumors. About 470 adults will tak…

This phase 2 trial is testing whether giving the targeted drug olaparib (Lynparza) along with hormone therapy for 6 months before surgery can shrink or eliminate prostate cancer in men with high-risk disease and specific gene mutations. About 32 men will receive the treatment, th…

This early-phase trial is testing a radioactive drug called 131I-TLX101, given alongside standard care, for people newly diagnosed with glioblastoma, an aggressive brain cancer. The study involves 12 participants and aims to find the safest dose and check for side effects. It is …

This early-phase trial is testing a combination of two treatments for people with recurrent or newly diagnosed glioblastoma and other aggressive brain cancers. The first treatment is pembrolizumab, an immunotherapy that helps the immune system attack cancer cells. The second is M…

This trial is testing two experimental drugs, avutometinib and defactinib, alone or with a standard chemotherapy (temozolomide), in people with high-grade malignant brain tumours like glioblastoma. The study aims to find a safe dose and see if the drugs can shrink tumours or stop…

This early-stage study is testing a new drug, [177Lu]Lu-OncoFAP-23, alone or with another drug (L19-IL2), in people with advanced solid tumors that have a protein called FAP. The main goal is to see if the treatment is safe and to find the best dose. About 56 adults whose cancer …

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This early-stage trial is testing whether combining a chemotherapy wafer placed in the brain during surgery with an immunotherapy drug and standard radiation (with or without another chemo pill) is safe and feasible for people with newly-diagnosed glioblastoma. About 50 adults wh…

This study is testing an experimental drug called ACE-86225106 in adults with advanced solid tumors that are difficult to treat or have stopped responding to standard therapies. The drug works by blocking a protein that helps cancer cells repair themselves, potentially slowing or…

This study tests whether adding the drug ruxolitinib to standard treatment (radiation and temozolomide) helps people with newly diagnosed glioblastoma live longer. About 190 adults will be randomly assigned to receive either the standard treatment alone or standard treatment plus…

This early-stage study tests an experimental drug called AZD1390 combined with radiation therapy for people with glioblastoma or brain metastases. The main goal is to check safety and find the best dose. About 180 participants will receive different doses of AZD1390 alongside rad…

This early-stage trial is testing whether combining a targeted radiation therapy with an immunotherapy drug (atezolizumab) before surgery can help fight glioblastoma, a fast-growing brain tumor. Twelve newly diagnosed patients will receive two weeks of treatment, then undergo sur…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This early-phase trial tests a new approach for people with recurrent high-grade astrocytomas, a type of aggressive brain cancer. During surgery to remove the tumor, doctors inject a modified virus directly into the brain cavity, followed by targeted radiation. The main goal is t…

This study is testing a procedure called EUS-RFA, which uses a thin needle guided by ultrasound to heat and destroy small tumors in the pancreas or adrenal glands. About 138 participants will receive this treatment as part of their standard care and be followed for up to 5 years.…

This early-phase trial tests a personalized vaccine called Tamavaq NeoVaccine in 29 adults with newly diagnosed glioma, a type of brain cancer. The vaccine is custom-made for each patient using AI and quantum mechanics to target unique cancer markers. The main goal is to check if…

This study tests whether giving two drugs (cetuximab and bevacizumab) directly into the brain's blood vessels each month is safe and can shrink tumors or slow their growth. It includes children and young adults under 22 with certain types of brain tumors that have come back or no…

This study tests whether specially engineered immune cells (CAR-T cells) can treat adults with a specific, aggressive form of acute lymphoblastic leukemia that has a genetic marker called the Philadelphia chromosome. Fifty newly diagnosed patients will receive an infusion of thes…

This early-stage trial tests a daily pill called PAS-004 in 56 adults with NF1 who have at least one symptomatic, inoperable plexiform neurofibroma. The study has two parts: Part A finds a safe dose, and Part B checks safety and whether the drug can shrink tumors. Participants ta…

This study tests whether adding elacestrant to the standard drug olaparib can help people with a certain type of advanced breast cancer (HR-positive, HER2-negative) that has a BRCA gene mutation. About 176 participants will be randomly assigned to receive either the combination o…

This phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…

This trial tests atezolizumab, a drug already approved for several cancers, in people with rare cancers that have high tumor mutational burden (TMB) or microsatellite instability (MSI). The goal is to see if the drug can shrink tumors or stop them from growing for at least 24 wee…

This 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…

This study tests a new approach for people with a recently removed glioblastoma (a fast-growing brain tumor). Doctors take some of the patient's own blood stem cells, add a protective gene (P140K MGMT) to them, and return them to the patient. This allows the use of higher doses o…

This small pilot study is testing an oral drug called mirdametinib in 10 people with advanced melanoma that has a specific gene change (NF1 mutation) and has stopped responding to standard immunotherapy. The main goal is to see if the drug can shrink tumors and if it is safe enou…

This study tests an oral drug called HQP1351 in people with chronic myeloid leukemia (CML) or a type of acute lymphoblastic leukemia (Ph+ ALL) that has not responded to at least two other treatments. The goal is to find the right dose and see how safe and effective the drug is. A…

This early-phase trial is testing a new drug called ABL001 together with three other medicines (dasatinib, prednisone, and blinatumomab) in people with BCR-ABL positive B-cell acute lymphoblastic leukemia or chronic myeloid leukemia in blast crisis. The study aims to find the saf…

This phase 2 trial tests whether adding two immunotherapy drugs (pembrolizumab and bevacizumab) to standard chemotherapy (gemcitabine and cisplatin) works better for advanced nasopharyngeal cancer. About 50 participants will be randomly assigned to receive either the standard che…

This early study tests a special helmet that uses focused ultrasound to temporarily open the blood-brain barrier in people with glioblastoma. The goal is to let more chemotherapy reach the tumor. Ten adults who have already had surgery and standard chemo will receive the ultrasou…

This trial tests whether giving the immunotherapy drug camrelizumab before surgery can help completely remove T4 colon cancers that have a specific genetic feature (dMMR). These cancers often don't respond well to standard chemotherapy. The study will enroll 18 adults who will re…

This study tests whether a daily ketone supplement (BHB) is safe and tolerable for people with Familial Adenomatous Polyposis (FAP), a genetic condition that causes many colon polyps and often leads to surgery. Twenty participants will take the supplement for two weeks to see if …

This clinical trial is testing a new combination of drugs for children and teens with a specific type of leukemia called Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). The study uses a targeted drug called olverembatinib along with immune therapy (blinat…

This early-phase trial is testing whether combining an immunotherapy drug (pembrolizumab) with targeted radiation before surgery is safe and feasible for people with recurrent glioblastoma, an aggressive brain cancer. Ten participants will receive the drug and radiation, then und…

This study tests whether an artificial intelligence system called CAD-EYE can detect precancerous polyps during colonoscopy in people with Lynch syndrome, a genetic condition that raises colon cancer risk. The AI is compared to the current best method, dye-spray chromoendoscopy, …

This study will test whether artificial intelligence (AI) can help doctors find and identify colorectal polyps during colonoscopy better than standard methods. About 1000 adults having a routine colonoscopy will be randomly assigned to either AI-assisted or standard colonoscopy. …

This study is testing a new blood test called DENEB that looks for tiny molecules (microRNAs) to find colorectal cancer and precancerous polyps early. Researchers will collect blood samples from 2,000 people who are also getting a colonoscopy. The goal is to see if the blood test…

This study looks at whether a menstrual cup can collect enough uterine tissue to screen for endometrial cancer, especially in women with Lynch syndrome who are at higher risk. About 25 participants will use a menstrual cup at home and also have a standard biopsy, then compare the…

This study tests whether a new type of PET scan using a radioactive tracer called 18F-FCH can more accurately locate overactive parathyroid glands or tumors before surgery. About 193 adults scheduled for parathyroid removal will receive both the new scans and a standard 4D-CT sca…

This study is testing a new type of PET scan that uses special radioactive tracers to find and map solid tumors in the body. The tracers target a protein called Trop2, which is often found on cancer cells. Researchers will enroll 400 people with various cancers (including bladder…

This study is testing a new stool DNA test (mt-sDNA 2.0) to see how well it detects colorectal cancer or advanced growths in people with Lynch syndrome, a genetic condition that raises cancer risk. Researchers will collect blood and stool samples from 950 participants and compare…

This study looks at whether a blood test for a protein called hPG80 can help find neuroendocrine tumors (NETs) earlier in people with MEN1, a genetic condition that raises tumor risk. About 297 participants with MEN1 will give blood samples, which will be compared to standard ima…

This study tests a new technique called sonobiopsy that uses focused ultrasound to release DNA from brain tumors into the bloodstream, making it easier to detect and analyze the tumor's genetic makeup through a simple blood test. The goal is to improve diagnosis and treatment pla…

This study tests a new way to check for bleeding after stroke surgery using a special ultrasound through a clear skull implant. It aims to see if this method is as accurate as a CT scan, which is the current standard but is expensive and time-consuming. About 25 adults who had a …

This study offers expanded access to a PET scan using a radioactive tracer called 18F-DOPA to locate small, insulin-producing lesions in the pancreas. It is for patients with congenital hyperinsulinism, Beckwith-Wiedemann syndrome, or insulinoma who have low blood sugar. The goal…

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

This study is testing whether a fecal immunochemical test (FIT), which checks for blood in the stool, can accurately detect colorectal cancer in people with Lynch Syndrome. Lynch Syndrome increases the risk of colorectal cancer, and patients currently need regular colonoscopies. …

This 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…

This study is testing a blood test called GRAIL Galleri that looks for signs of many different cancers at once. It is being offered to 1000 people who have a high risk of cancer due to inherited genetic conditions. The goal is to see if the test can find cancers early, when they …

This study is testing a new AI-powered blood test that looks at platelets and immune cells to find early signs of eight different cancers, including lung, breast, and pancreatic cancer. Researchers will collect blood samples from 6,000 adults aged 40 and older, both with and with…

This pilot study tests a new device called the Retro-TCE capsule, which is a small camera attached to a string that is inserted into the lower gut to take pictures without needing sedation. The study will enroll 30 people, including healthy volunteers and those with Lynch syndrom…

This study is testing a new blood test that looks for DNA fragments from tumors in people with hereditary cancer syndromes like Lynch syndrome or BRCA mutations. The goal is to see if the test can find cancers earlier than standard screening methods. Researchers will compare canc…

This study compares a new PET-CT scan (FCH-PET-CT) to standard imaging (bone scan and MRI/CT) to see which better finds cancer that has spread outside the pelvis in men with prostate cancer and specific DNA repair gene mutations. About 50 men with these mutations will be enrolled…

This study is testing whether a urine test that looks for tumor DNA can find bladder and urinary tract cancers early in people with Lynch syndrome, a genetic condition that raises cancer risk. About 200 participants aged 50–75 will provide urine samples and be followed for one ye…

This Phase 3 study is testing whether markers in pancreatic fluid and blood can detect early pancreas cancer in people with high genetic risk. Participants receive a secretin injection to collect fluid during an endoscopy. The goal is to improve early detection in those with here…

This early-phase study tests the safety of a drug called ONC201 (dordaviprone) in 36 adults at high risk for colorectal cancer due to familial adenomatous polyposis (FAP) or a history of many polyps. The drug aims to kill precancerous cells without harming normal ones. Researcher…

This study tests whether naproxen or aspirin can increase immune cells in the colon to prevent cancer in people with Lynch syndrome, a genetic condition that raises cancer risk. About 40 participants will take one of these drugs or a placebo for a short time. Researchers will mea…

This study tests whether giving selumetinib early to children with NF1, before nerve tumors cause symptoms, can prevent tumor growth and related problems. About 200 children aged 1 to 8 years with no known tumors will either receive the drug or be observed. The goal is to see if …

This study tests different amounts of exercise to see if it can prevent colorectal polyps from returning in people with Familial Adenomatous Polyposis (FAP). About 32 participants will follow a personalized treadmill program at home for 26 weeks. Researchers will check how well p…

This study tests whether a smartphone app, combined with nutrition education, can help people at high risk for cancer eat healthier and reduce their cancer risk. About 170 participants will either get the app or standard advice, and researchers will measure changes in diet qualit…

This early-stage trial tests a personalized vaccine made from a person's own immune cells (dendritic cells) loaded with unique proteins found in Lynch syndrome-related cancers. The goal is to train the immune system to recognize and attack precancerous cells, potentially preventi…

This study is for women with BRCA1, BRCA2, or other gene mutations that greatly raise ovarian cancer risk. Instead of removing both ovaries and fallopian tubes at once, researchers are testing whether removing just the tubes first and delaying ovary removal is equally safe. The g…

This study tests whether giving the drug sirolimus early in life can prevent or delay seizures in infants with tuberous sclerosis complex (TSC). About 64 babies under 7 months old will receive either sirolimus or a placebo. Researchers will track when seizures first appear and mo…

This pilot study tests whether quercetin, a natural antioxidant found in many plants, is safe for people with Dyskeratosis congenita or telomere biology disorders. Twelve participants will take quercetin for 24 weeks while researchers monitor side effects and how well people stic…

This study looks at whether a fermented whey protein and fiber supplement can improve digestive comfort in recreational athletes. Researchers will enroll 114 participants, some with and some without stomach complaints, and compare the supplement to a placebo. The goal is to see i…

This study tests two experimental drugs, siltuximab and erenumab, to see if they can safely reduce chronic pain in people with schwannomatosis, a condition that causes painful nerve tumors. About 40 adults with moderate-to-severe pain will receive either a drug or a placebo. The …

This study tests whether closely watching jaw movement and starting physical therapy early can prevent or reduce trismus (jaw tightness) in people receiving radiation for head and neck cancer. Thirty adults will be checked weekly during treatment and given jaw exercises if their …

This study tests a 4-week online cognitive-behavioral therapy (CBT) program for women with BRCA1/2 mutations who have finished cancer treatment and still worry a lot about cancer coming back. Researchers will compare those who get therapy right away to those on a waitlist, measur…

This study tests a drug called fezolinetant to see if it can reduce hot flashes in men with prostate cancer who are on hormone therapy (androgen deprivation therapy). About 60 men will take either the drug or a placebo daily for 4 weeks. Researchers will track hot flash frequency…

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study tests a remote program called Regulating Together (RT) for children aged 8-17 with Tuberous Sclerosis Complex (TSC) who struggle with emotional outbursts. The program uses cognitive behavioral therapy and mindfulness in small group sessions over 5 weeks. Researchers wa…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study follows people with inherited BAP1 gene mutations, which raise the risk of mesothelioma and other cancers. Researchers will track participants over many years, collecting medical history, blood samples, and scans to understand how these mutations lead to cancer. The go…

This study follows children and adults with medullary thyroid cancer (MTC), often linked to a genetic condition called MEN2. Researchers will track how the cancer grows and affects health over time using regular check-ups, blood tests, and imaging. No treatment is given, but part…

This study collects blood, urine, saliva, and tissue samples from nearly 6,000 people who have or may have cancer, including rare inherited forms. The samples are stored and used for research to understand the genetic and molecular basis of cancer. No new treatment is being teste…

This study aims to understand how genetics and environmental factors contribute to melanoma, a serious skin cancer. Researchers will enroll up to 3,000 people with a personal or family history of melanoma or related conditions. Participants will fill out questionnaires, provide b…

This study aims to uncover the genetic causes of hereditary leiomyomatosis renal cell cancer (HLRCC), a condition that can lead to painful skin bumps, uterine fibroids, and kidney tumors. Researchers will study people with known or suspected HLRCC and their family members to iden…

This study aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study collects extra blood, urine, and tumor samples from children and adults with certain cancers to build a large tissue repository. Researchers will analyze these samples to learn more about the genetic and molecular makeup of these tumors. The goal is to support future s…

This study aims to learn more about heart and blood vessel diseases by observing people who have them or are at risk. Researchers will collect samples and perform tests like imaging and stress tests on up to 5,000 participants, including healthy volunteers and relatives of affect…

This study follows 300 adults aged 30 and older who have or may have a BAP1 gene mutation, which raises the risk for mesothelioma and other cancers. Researchers will use advanced CT scans, blood tests, and minimally invasive camera procedures to look for early signs of cancer. Pa…

This study explores whether a computer algorithm can analyze resting-state MRI scans taken before surgery to predict how long a person with glioblastoma multiforme (a type of brain cancer) might survive. The goal is to see if the algorithm can accurately classify patients as shor…

This study looks at why people with tuberous sclerosis, a rare genetic condition, develop non-cancerous skin tumors. Researchers will examine up to 400 adults, perform skin exams, and take small tissue samples (biopsies) from tumors. The goal is to identify the cells and genetic …

This study looks at children under 15 with neurofibromatosis type 2 (NF2), a rare genetic condition that causes nerve tumors. Researchers want to see if skin and mouth lesions can help diagnose NF2 earlier than current methods, which rely on hearing, nerve, and eye symptoms. By e…

This study is building a huge registry of information and biological samples from adults with or at risk for many types of cancer, as well as healthy volunteers. Researchers will use this resource to study what causes cancer and how to better prevent, detect, and treat it. The re…

This study is collecting live tumor samples from 2,000 cancer patients undergoing standard biopsies. Researchers will analyze these samples to understand how tumors respond to immunotherapy drugs outside the body. The goal is to develop a method to predict which patients will res…

This study creates a registry of medical records, scans, and surveys from adults with neurofibromatosis type 1 (NF1) who also have a glioma brain tumor. Researchers will track diagnosis, treatments, and quality of life over time to better understand the disease. The goal is to im…

This study looks at gum disease in people with rare kidney disorders like Alport syndrome, Fabry disease, and tuberous sclerosis, as well as lupus. Researchers will compare 100 participants to those with chronic kidney disease and healthy controls. They aim to understand how comm…

This study collects information from 200 adults in Russia who have neurofibromatosis type 1 (NF1) with plexiform neurofibromas. Researchers will look at patients' age, symptoms, and medical history to better understand the disease. No new treatments are being tested; the goal is …

This study collects blood and urine samples from 200 adults with glioblastoma (a type of brain tumor) who are receiving radiation therapy. Researchers want to see if levels of two proteins, VEGF and MMP, can predict whether the tumor will come back within one year. The goal is to…

This study follows 269 people with neurofibromatosis type 2 (NF2) for up to 10 years to learn how the disease progresses. Participants will have yearly exams, MRI scans, hearing tests, and blood draws. The goal is to understand tumor growth, hearing loss, and speech or swallowing…

This study follows people of all ages who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and bone marrow over many years to understand how the condition deve…

This study aims to understand how lymphangioleiomyomatosis (LAM) damages the lungs at the cellular and genetic level. Researchers will follow up to 2,000 participants, including women with LAM and healthy volunteers, using advanced imaging and lab tests. The goal is to find the p…

This study is building a large collection of blood, DNA, and tissue samples along with health records from up to 5,000 people with tuberous sclerosis complex (TSC) or a related condition called lymphangioleiomyomatosis. Participants can give blood or cheek swab samples and allow …

This study compares a smartphone chatbot to usual care for collecting family history and identifying women at high risk for hereditary cancer syndromes. Participants are English-speaking gynecology patients aged 18 and older who have not had prior genetic testing. The goal is to …

This study looks at the tiny organisms living on our skin—like bacteria and fungi—and how they might differ in people with eczema (atopic dermatitis). Researchers will collect skin samples from healthy volunteers and patients aged 2 to 40 with moderate to severe eczema, as well a…

This study follows up to 3,000 people who have, are at risk for, or are related to someone with a parathyroid disorder. Researchers will collect medical records, questionnaires, and samples like blood and saliva to learn what causes these conditions and how they change over time.…

This study aims to learn more about Li-Fraumeni syndrome (LFS), a genetic condition that raises the risk of several cancers. Researchers will study up to 5,000 people with LFS or related cancer histories to find new genes, understand how the TP53 gene works, and identify factors …

This study aims to find out how often Muir-Torre syndrome (MTS) occurs in people who already have Lynch syndrome, a genetic condition that raises cancer risk. Researchers will examine skin lesions and tumors from 150 participants to see if they are linked to MTS. The goal is to b…

This 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…

This study works to improve questionnaires that measure pain, daily activities, and physical function for people with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas. Participants aged 5 and older will give feedback on existing surveys through group discussions or…

This study follows 56 young adults who have a genetic condition that raises their cancer risk. After they graduate from pediatric care at St. Jude, researchers track whether they find adult doctors and continue regular cancer screenings over 8 years. Participants fill out surveys…

This study is a disease registry that will collect information from 200 people in Egypt who have neurofibromatosis type 1 (NF1), a genetic condition that causes tumors to grow on nerves. The goal is to understand how the disease progresses over time, what treatments patients rece…

This study tests whether web-based tools can help people with hereditary cancer syndromes share risk information with their relatives and encourage them to get genetic testing. Researchers will enroll 625 participants (patients and their relatives) and track how many use the tool…

This study looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

This study aims to find the genetic causes of Ollier disease and Maffucci syndrome, rare disorders that cause cartilage tumors and increase cancer risk. Researchers will study 100 people aged 2 and older using blood tests, scans, and genetic sequencing. Participants will stay at …

This study uses genetic testing of brain tumors from children, adolescents, and young adults (ages 1 to 39) with newly diagnosed high-grade glioma, including DIPG. The goal is to identify specific genetic changes in each tumor and then see if patients can join a treatment trial t…

This phase 1 trial at M.D. Anderson Cancer Center is testing whether it is safe to collect stem cells from people with RUNX1 familial platelet disorder, a rare inherited condition that raises the risk of bleeding and leukemia. Four participants will receive drugs to mobilize stem…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study is testing a device called the AlgometRx Nociometer to see if it can measure pain and other abnormal sensations in people with neurofibromatosis type 1 (NF1). The device uses a small electrode on a finger or toe to send painless signals and a camera to record changes i…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

This study aims to learn how genes and the environment contribute to rare tumors and cancer risk in individuals and families. Researchers will collect medical histories, genetic samples, and health data from up to 500 participants of all ages. No treatment is given; the goal is t…

This study is for people aged 3 and older with neurofibromatosis type 1 (NF1), a genetic condition that often causes noncancerous nerve tumors. About half of people with NF1 get these tumors, and sometimes they turn cancerous. Researchers want to test a new method to predict whic…

This study tests a special pair of glasses (loupe-based device) that helps surgeons see brain tumor tissue during surgery using fluorescence. The goal is to see if this wearable device is as accurate as the large microscope currently used. 30 adults with glioblastoma or anaplasti…

This study looks at how gut microbes and environmental factors affect polyp development in people with familial adenomatous polyposis (FAP), a genetic condition that causes many colon polyps and often leads to cancer. Researchers will collect stool, blood, and duodenal fluid samp…

This study looks at genetic changes in families to figure out which ones truly increase cancer risk. Researchers will analyze DNA from 11,000 people, including those with certain gene variants and their relatives. The goal is to improve genetic counseling and help doctors decide …

This study follows families with a history of inherited kidney cancer to learn more about the disease's genetic causes and how it progresses. Researchers will collect blood, tissue, and urine samples from affected individuals and their relatives. The goal is to identify new genes…

This study is testing whether special MRI scans can identify low-oxygen (hypoxic) areas in glioblastoma, an aggressive brain cancer. Researchers will compare these scans with a standard PET imaging method in 20 participants. The goal is to see if MRI can reliably guide radiation …

This study tests a structured program to help adolescents with epilepsy transition from pediatric to adult healthcare. Researchers will compare how many patients attend their first adult clinic appointment and whether they return to pediatric care. The goal is to improve self-man…

This study reviews the medical records of 300 people with multiple osteochondromas (a rare bone condition causing multiple bony growths) who had surgery at a specialized hospital in Italy. Researchers want to understand how many surgeries patients typically need, what types of su…

This study looks at families in Switzerland who carry genes that raise the risk of breast, ovarian, colorectal, or endometrial cancers. Researchers will survey both the person with the gene mutation and their close relatives to understand how many get tested and what barriers the…

This study looks at genetic changes in people with early-stage blood cancers or conditions that may lead to cancer. Researchers will analyze blood, bone marrow, or cheek cell samples from up to 10,000 participants to find DNA errors linked to cancer risk and progression. The goal…

This pilot study is testing whether a whole-body MRI scan, analyzed by artificial intelligence, can reliably detect pre-cancerous changes in children with neurofibromatosis type 1 (NF1). Fifteen children will receive three MRI scans over a year. The goal is to see if the scans ar…

This study tests a questionnaire called QUOCCAS that parents and children fill out to see if it can spot kids with a higher chance of having an inherited cancer syndrome. About 205 children and teens with cancer will take part, giving a blood or saliva sample for genetic testing.…

This study follows people with a gene change (DDX41) that raises the risk of blood cancers like MDS and AML, along with their family members. Researchers will collect health information and samples over 10 years to learn how these inherited risks lead to cancer. No treatment is g…

This study is developing questionnaires to measure how visible tumors in neurofibromatosis type 1 (NF1) affect patients' appearance concerns. About 110 participants, including children, adults, and caregivers, will complete surveys and join focus groups or interviews to give feed…

This study compares genetic counselling done by video (telegenetics) with traditional in-person sessions for people at risk of hereditary breast, ovarian, or colorectal cancer. Researchers will measure how well patients understand their options, their emotional responses, and the…

This study is testing a new online platform called Nest for young adults aged 18-39 who have had genetic testing for cancer risk. The platform gives both patients and their doctors access to updated information about genetic findings. Researchers want to see if the tool is easy t…

This 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…

This study is creating a registry of up to 1,000 people with rare lymphatic system disorders. Researchers will collect information from medical records and yearly surveys to understand how these diseases progress, what treatments are used, and how they affect quality of life. The…

This study is testing whether a swallowed video capsule (a pill-sized camera) can help find small bowel cancer early in people with Lynch syndrome, a genetic condition that raises cancer risk. About 100 participants will swallow a capsule every two years to take pictures of their…

This study from St. Jude Children's Research Hospital looks at how parents and children (ages 10-24) talk about the child's genetic risk for cancer. The goal is to understand what helps or hinders these conversations, so doctors can create better education programs. The study wil…

This study follows people with von Hippel-Lindau (VHL) disease who have pancreatic tumors or cysts. The goal is to learn how these growths change over time and to see if a special type of scan (68-Gallium DOTATATE PET/CT) can find them better. Participants will have regular check…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study tests whether adding a special PET scan (FET-PET) to standard MRI can better guide surgery and radiation for glioblastoma, the most aggressive brain tumor. About 189 adults with a single tumor will be randomly assigned to have treatment planning based on MRI alone or M…

This study aims to find the genes and DNA changes that cause cherubism, a rare condition that affects the jaw bones. Researchers will study blood and tissue samples from up to 600 people, including patients and their family members. The long-term goal is to understand the disease…

This study asks 500 people with Li-Fraumeni syndrome (or their parents) to fill out a questionnaire about why they would or would not join a future trial comparing standard genetic counseling to a personalized version. The goal is to understand what factors influence their decisi…

This study looks at whether a child's genes can predict how they will respond to painkillers after spine fusion surgery. Researchers will test 300 children aged 10 to 21 for specific gene variants linked to pain relief and side effects like nausea and breathing problems. The goal…

This study will adapt educational materials about medullary thyroid cancer to be more culturally appropriate and easier to understand for Spanish-speaking Hispanic or Latino patients. Researchers will interview 40 participants, including patients and caregivers, to gather feedbac…

This study aims to find early markers of Parkinson's disease, multiple system atrophy, and Lewy body dementia by analyzing samples from the nose, blood, and urine. Researchers will compare results from 180 people with these conditions and healthy volunteers. The goal is to improv…

This pilot study tests whether an educational video can help women with BRCA1 or BRCA2 mutations make more informed decisions about hormone replacement therapy after having their ovaries and fallopian tubes removed to lower cancer risk. Fifty premenopausal women scheduled for thi…

This study looks at how high-frequency 5G waves (27.5 GHz) affect the skin. Researchers will expose healthy volunteers and people with certain skin conditions to these waves and analyze skin cell changes using advanced techniques. The goal is to understand any biological effects,…

This study is collecting information and samples from 1,500 people with TP53 gene changes (linked to Li-Fraumeni Syndrome, a condition that raises cancer risk) and their relatives. Researchers want to better understand how these gene variants affect cancer risk and how accurate f…

This study looks at how multiple osteochondromas (non-cancerous bone growths) affect movement and body shape in children and adults. Researchers will use wearable sensors, pressure mats, and 3D body scans to measure walking, balance, and joint motion. The goal is to find simple w…

This study reviews past medical records of 400 people with Lynch syndrome who had a small bowel capsule endoscopy (a pill-sized camera) to screen for pre-cancerous growths or cancer in the small intestine. The goal is to see how well this camera test finds these lesions compared …

This study is looking for 500 people with certain cancers (like eye or skin melanoma, kidney cancer, or mesothelioma) and their family members to understand how common BAP1 gene mutations are. Researchers will collect medical history and questionnaires to learn about cancer risks…

This study uses a large registry of 2030 people with medullary thyroid cancer to track how the disease develops and spreads. Researchers will collect medical records, genetic data, and patient surveys to better understand the cancer's natural history. The goal is to improve how a…

This study looks at whether online videos or a call with a peer navigator can help adults with neurofibromatosis 1 (NF1) who have low health literacy better understand their condition and care recommendations. Fifty participants across the U.S. will receive personalized care lett…

This study is looking at 2,000 people who have early warning signs of blood cancers or bone marrow failure. Researchers use a special genetic test (next generation sequencing) to find changes in cancer-related genes. The goal is to better understand who is at risk and to catch th…

This study looks back at 500 adults with relapsed or refractory Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). Researchers want to understand long-term survival and how patients respond to treatment, with the goal of improving future therapies. No new tr…

This study looks back at nearly 2,000 people who had genetic testing for the TP53 gene, which is linked to a high risk of many cancers. Researchers want to find out how often harmful changes in this gene occur and how they differ across groups. The goal is to improve genetic coun…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study creates a registry of people with pancreatic diseases or a high risk for pancreatic cancer, such as those with a family history or certain genetic mutations. Researchers will collect medical information and blood samples to study how these conditions develop over time.…

This study follows 50 children with PTEN gene mutations to better understand their risk of developing tumors. Participants will have yearly check-ups including blood tests, ultrasounds, and skin exams for 5 years. The goal is to create better monitoring guidelines for these child…

This study collects and preserves glioblastoma tissue from 120 patients during standard surgery, along with blood samples. Researchers will analyze tissue from different tumor regions to understand its structure and genetics. The goal is to learn more about how glioblastoma works…

This study looks at how kidney and bladder cancers use nutrients like sugar and fat to grow. Participants receive a harmless nutrient tracer during surgery or biopsy, and researchers collect blood and tissue samples to analyze cancer metabolism. The study does not change standard…

This study looks at how a standard immunotherapy drug (anti-PD1) changes the appearance and biology of atypical moles in people with advanced melanoma. Researchers will track 30 patients to see if the drug alters mole size, color, and cellular features. The goal is to better unde…

This study aims to create a standardized quality system for confocal enteroscopy, a technique that lets doctors see cells in real time during a small bowel exam. Researchers will enroll 600 people aged 18-70 who need small bowel endoscopy, along with certified gastroenterologists…

This study collects information from pregnant women with Tuberous Sclerosis Complex (TSC) or Lymphangioleiomyomatosis (LAM) and their babies. Researchers will monitor medication use, side effects, pregnancy complications, and mental health after birth. The goal is to better under…

This study offers free genetic testing to the general public to identify people with inherited cancer syndromes like hereditary breast and ovarian cancer or Lynch syndrome. Researchers aim to see if broad testing is more effective than only testing those with a family history. Up…

This study compares two methods of offering cancer genetic testing to patients in community health centers. One method lets primary care doctors order tests directly, while the other uses a specialist model with extra support. Researchers will track how many patients get tested a…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study compares a self-guided online genetic testing program to standard in-person counseling for people at risk of hereditary cancer. About 1,000 adults who meet national guidelines for genetic testing will participate. The goal is to see if the online option works just as w…

This study creates and tests a decision aid for people with medullary thyroid cancer and their caregivers. The tool helps them discuss with their doctors whether to start or stop drugs, join clinical trials, or continue active monitoring. About 120 participants, including patient…

This study is testing whether a blood test (liquid biopsy) can detect a rare but serious nerve tumor called MPNST earlier than current methods in adults with Neurofibromatosis Type 1 (NF1). Researchers will compare the timing of tumor detection by the blood test versus standard i…

This study looks at a new way to help family members of cancer patients learn if they have inherited a higher risk for cancer. About 240 people with a known cancer gene change will be asked to share their test results with their close relatives, either on their own or with help f…

This study explores whether offering genetic testing for inherited cancer risk (like BRCA1/2) during routine pregnancy or fertility care is practical and acceptable to patients. Researchers will enroll 550 people receiving prenatal or preconception care at Weill Cornell Medicine.…

This study looks at tiny particles called extracellular vesicles in the blood of women with a rare lung disease called LAM. Researchers want to see if these particles can act as biomarkers to show how the lungs are affected. The study will compare women with different forms of LA…

This study tests whether using tiny electrical currents to trigger seizures can help doctors better understand where seizures start in the brains of children with drug-resistant epilepsy. About 86 children and young adults (ages 1-30) who are already scheduled for brain monitorin…

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

This study aims to discover new genes that increase the risk of developing cancer, especially in people with a strong family history or unusual cancer patterns. Researchers will analyze genetic data from 1,500 adults and children who have or may develop inherited cancer. The goal…

This study follows 4700 women with high-risk gene mutations (like BRCA1/2) who choose to have a nipple-sparing mastectomy to prevent breast cancer. Researchers want to see if keeping the nipple is safe over many years, compared to traditional mastectomy that removes it. The goal …

This study is creating a registry for children with PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition that increases cancer risk. Researchers will follow 100 participants for 3 years to link genetic changes with health outcomes. The goal is to develop better monitori…

This study is collecting health information from 10,000 women in Italy who carry BRCA1 or BRCA2 gene mutations, which raise the risk of certain cancers. Researchers aim to better understand where these mutations are most common and how to improve care. Participants simply provide…

This study aims to create a large collection of blood samples from 2,500 people with or at high risk for cancer. Researchers will use these samples to study liquid biopsies, which are blood tests that may help detect cancer, track treatment response, and spot recurrence. Particip…

This study is building a large registry of people with multiple osteochondromas, a condition that causes benign bone tumors. Researchers will collect medical history, genetic data, and treatment information from up to 10,000 participants. The goal is to better understand the dise…

This study is creating a registry for people with Li-Fraumeni syndrome, a rare genetic condition that raises the risk of several cancers. Researchers will collect medical, genetic, and quality-of-life data from 200 participants in Italy. The goal is to better understand the disea…

This study is building a registry of up to 400 people with Ollier disease or Maffucci syndrome. Researchers will collect medical history, genetic data, imaging, and quality-of-life information to better understand how these conditions progress and how they are best managed. The g…

This study looks at two new approaches to cancer genetic counseling. The first helps doctors reach out to family members who may have inherited a cancer-related gene change, making it easier for them to get tested. The second uses an online portal to keep patients and their docto…

This study looks at how cancer treatment impacts the work life and overall well-being of 400 men, ages 21 to 70, who have been newly diagnosed with solid tumors like colorectal, lung, or head and neck cancer. Participants will fill out questionnaires about their work hours, finan…

This study compares a chatbot to standard care to see which better helps Black cancer survivors learn about and request genetic testing for hereditary cancer. About 428 participants will be randomly assigned to either group. The goal is to reduce disparities in genetic testing an…

This study follows children under 21 who have a genetic condition that raises their risk of developing cancer, along with their relatives. Researchers will collect health information and samples over time to better understand how these cancers develop and how to catch them early.…

This 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…

This study looks at the genes of people with rare nervous system tumors called pheochromocytoma and paraganglioma. Researchers want to find the genetic changes that cause these tumors and how they affect health. Up to 2,000 patients and their family members will provide DNA sampl…

This registry tracks up to 1,500 people with triple negative breast cancer or inherited genetic mutations (like BRCA). Researchers will study how often these mutations occur, how patients respond to chemotherapy, and long-term survival. The goal is to better understand the diseas…

This study will follow 600 people with a specific type of advanced colorectal cancer (MSI-high) who are being treated with the immunotherapy drug pembrolizumab. The goal is to understand why about 20-30% of patients do not respond to this treatment. By analyzing tumor samples and…

This study tests a new combined MRI and PET scan that measures how active brain tumor cells are by looking at their energy use (glycolysis). Researchers will take small tissue samples during surgery to check if the scan matches the tumor's actual biology. The goal is to better id…

This study aims to find out which of two educational programs better helps adults with Neurofibromatosis 1 (NF1) and parents of children with NF1 get the recommended health screenings during their regular checkups. Participants live across the U.S. and do not currently visit a sp…

This study tests a decision aid designed to help Black and Latina women at high risk for breast cancer make informed choices about whether to get a breast MRI in addition to their yearly mammogram. Eighty participants will be randomly assigned to receive either standard risk info…

This study aims to create a more accurate way to predict duodenal cancer risk in people with familial adenomatous polyposis (FAP), a genetic condition that greatly increases the chance of developing this cancer. Researchers will analyze endoscopy images from 300 participants to d…

This study explores whether people with Lynch syndrome can use a self-collected vaginal swab at home to detect early signs of uterine cancer. Researchers will enroll 30 participants who will collect samples and answer surveys. The main goal is to see if this approach is practical…

This study compares two ways to provide pre-test genetic counseling to people at high risk for hereditary cancers: a chatbot (Genetic Information Assistant) versus a live telegenetics session with a genetic counselor. About 96 participants will be randomly assigned to one method,…

This study will collect blood and tumor samples from 1,100 people with various cancers, including head and neck, ovarian, cervical, lung, and brain cancers. Researchers want to learn how immune cells called T cells behave in these tumors. The goal is to better understand why some…

This study collects tissue samples, medical data, and family histories from over 1,100 people being screened for colorectal or endometrial cancer. Researchers hope to discover new genes and mechanisms that increase cancer risk, especially in hereditary cancer syndromes. The goal …