Autosomal dominant disease

This study tests a vaccine called Nous-209 in 45 people with Lynch syndrome, a genetic condition that raises the risk of colon and other cancers. The vaccine is made from man-made copies of proteins that cancer cells produce, aiming to teach the immune system to recognize and att…

This phase 2 trial tests whether a daily pill called miransertib can slow or stop the abnormal tissue overgrowth seen in Proteus syndrome, a rare genetic condition. About 38 people aged 3 and older will take the drug for up to 4 years. Researchers will measure changes in foot ove…

This phase 3 trial is testing whether adding the immunotherapy drug atezolizumab to standard chemotherapy can help prevent cancer from coming back in people with stage III colon cancer that has a specific DNA repair defect (dMMR). About 712 participants will receive either chemo …

This study follows 165 children who previously took dabrafenib and/or trametinib for certain brain tumors. Researchers want to see if these drugs are safe over the long term and how they affect growth. The children continue their treatment and are monitored for side effects and d…

This Phase 2 trial tests a combination of pembrolizumab (Keytruda) and quavonlimab against other drug combos in 302 people with stage IV colorectal cancer that has a specific genetic feature (MSI-H or dMMR). The goal is to see if the new combo shrinks tumors better and for longer…

This study investigates whether combining the medication lovastatin with intensive reading tutoring can improve reading abilities in children and young adults (ages 8-20) with Neurofibromatosis Type 1 (NF1) who have reading disabilities. Participants first receive either lovastat…

This early-stage trial tests a single injection of ARO-ATXN2 in 36 adults with spinocerebellar ataxia type 2, a rare genetic disorder that affects movement and coordination. The main goal is to see if the drug is safe and how the body processes it. Participants are randomly assig…

This early study tests the safety of TheraSphere PCa, tiny radioactive glass beads injected into the prostate to treat localized prostate cancer. The trial involves 36 men with favorable intermediate-risk cancer and aims to find the maximum safe radiation dose. Researchers will m…

This study compares a new three-drug combination (NABPLAGEM) against a standard two-drug chemo regimen for people with advanced pancreatic cancer that has spread and carries a BRCA or PALB2 gene mutation. The trial enrolls 10 participants whose cancer worsened after initial treat…

This study compares a targeted drug called selumetinib to standard chemotherapy (carboplatin/vincristine) in children aged 2 to 21 with neurofibromatosis type 1 (NF1) and low-grade glioma, a type of brain tumor. The goal is to see if selumetinib works as well or better at control…

This trial tests a new drug called Cadonilimab in 28 people with advanced colorectal cancer that has not responded to standard immunotherapy. The drug is a bispecific antibody that targets two immune checkpoints (PD-1 and CTLA-4) to potentially reactivate the immune system agains…

This phase 3 trial tests whether the drug troriluzole can slow the progression of spinocerebellar ataxia, a rare genetic disorder that affects coordination and balance. About 300 adults with different types of SCA are randomly assigned to take either troriluzole or a placebo dail…

This early-stage study tests whether a mix of three drugs—tacrolimus, nivolumab, and ipilimumab—can shrink or control certain skin cancers in people who have had a kidney transplant. The main goal is to see if the cancer responds without causing the body to reject the transplante…

This study tests a drug called selumetinib in children and young adults (ages 3-18) with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink or slow the growth of these tumors. Participants take the dru…

This early-stage study tests a combination of two drugs, avutometinib and defactinib, in children and young adults (ages 3 to 30) with advanced or recurrent solid tumors that have specific genetic changes. The main goal is to find the safest dose with the fewest side effects. The…

This study was designed to test two immunotherapy drugs, nivolumab and ipilimumab, in children and young adults with cancers that returned or didn't respond to treatment and had many genetic mutations. The goal was to see if the drug combination was safe and could shrink tumors. …

This study tests whether combining two immunotherapy drugs (nivolumab and ipilimumab) with radiation therapy can control or shrink tumors in people with colorectal or pancreatic cancer that has specific genetic features (MSS or MSI-high). About 84 adults with advanced disease are…

This study tests a new drug called encaleret against usual treatments for people with a rare genetic condition called autosomal dominant hypocalcemia type 1 (ADH1), which causes low blood calcium and high urine calcium. About 67 participants will receive either encaleret or stand…

This study looks at how safe and effective the drug everolimus is for Taiwanese adults with tuberous sclerosis complex (TSC) who have kidney tumors called angiomyolipomas. Four participants will take the drug and be monitored for side effects and tumor shrinkage. The goal is to c…

This study tests a new drug called Cetrelimab (JNJ-63723283) in 234 people with advanced solid tumors like lung, melanoma, bladder, and colorectal cancers. The drug works by blocking PD-1, a protein that stops the immune system from attacking cancer cells. The trial has two parts…

This study looks at whether the drug troriluzole can slow the progression of spinocerebellar ataxia (SCA), a rare genetic disease that affects movement and balance. Researchers will compare 909 patients who took troriluzole for up to three years with similar patients who did not …

This study tests a granule (sprinkle) form of the drug selumetinib in children aged 1 to under 7 years who have neurofibromatosis type 1 (NF1) with painful, inoperable tumors. The goal is to find the right dose, check safety, and see if it shrinks tumors. About 36 children will t…

This study tests a drug called CAM2029 (octreotide) given as a weekly or every-other-week shot to people with symptomatic polycystic liver disease. The goal is to see if it can shrink the liver and reduce symptoms like belly pain, bloating, and nausea. About 71 adults with an enl…

This study follows about 111 people with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex who are taking Epidyolex (a CBD oral solution) for seizures. Researchers track how many stay on the drug for a year and how many seizure-free days they have. It's an o…

This study tests a drug called trametinib in children with a rare blood cancer (juvenile myelomonocytic leukemia) that has returned or not responded to treatment. The drug works by blocking certain enzymes that help cancer cells grow. The goal is to see if it can shrink or contro…

This study looks at whether taking selumetinib with a low-fat meal reduces stomach problems in teenagers with neurofibromatosis type 1 (NF1) who have tumors that cannot be removed by surgery. About 24 teens will take the drug under both fed and fasted conditions to compare drug l…

This early-stage trial is testing the safety and potential benefit of pembrolizumab, an immunotherapy drug, in 71 children whose brain tumors (like DIPG, high-grade gliomas, or medulloblastoma) have come back or not responded to standard treatments. The drug works by helping the …

This study tests a drug called selumetinib in 32 Chinese children and adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be surgically removed. The goal is to check the drug's safety and how well it works at shrinking these tumors. Participants take the …

This study tests a drug called selumetinib in children and young adults with low grade glioma that has come back or not responded to other treatments. The drug works by blocking certain enzymes that help tumor cells grow. The goal is to find the best dose and see if it can shrink…

This phase II trial is testing whether a combination of talimogene laherparepvec (a modified herpes virus that infects and kills cancer cells) and nivolumab (an immunotherapy drug) can shrink tumors in people with rare skin cancers or lymphomas that haven't responded to standard …

This Canadian study tests whether remote monitoring of implantable defibrillators can replace regular in-clinic checkups. Over 1,100 participants will either use a home transmission system or receive usual care. The goal is to see if remote monitoring can detect heart issues fast…

This phase II trial tests the safety and effectiveness of a drug called XmAb20717 in 140 people with advanced rare cancers, including mesothelioma, lymphoma, and small cell lung cancer. The drug is given by IV. The main goal is to see if tumors shrink. The trial is currently susp…

This study tests a device that delivers specific light and sound patterns to the brain, aiming to slow the progression of mild-to-moderate Alzheimer's disease. About 670 participants will use the device at home for an hour daily over a year, with half receiving a sham (inactive) …

This phase 2 trial tests whether bevacizumab, a drug that blocks blood vessel growth, can reduce chronic bleeding and iron-deficiency anemia in people with hereditary hemorrhagic telangiectasia (HHT). HHT causes abnormal blood vessels that bleed easily. The study involves 33 adul…

This study tests a drug called mirdametinib in 114 adults and children with a genetic condition called NF1 that causes nerve tumors (plexiform neurofibromas) that cannot be removed by surgery and cause serious problems. The drug works by blocking a protein that helps tumors grow.…

This study is testing a less invasive procedure called TAVR to replace the aortic valve in 150 people who have a bicuspid aortic valve (a valve with two flaps instead of three) and severe narrowing. The goal is to see if it is safe and works well for people who are at low risk fo…

This study tests a device that uses ultrasound to burn nerves around the kidney arteries, aiming to lower blood pressure in people with autosomal dominant polycystic kidney disease (ADPKD) whose blood pressure remains high despite medication. 44 participants will be randomly assi…

This study tests whether empagliflozin, a drug used for diabetes, is safe and tolerable for people with autosomal dominant polycystic kidney disease (ADPKD). About 50 adults with moderate kidney function will receive either the drug or a placebo for 12 months. Researchers will mo…

This phase 2 trial tests the drug trametinib in children and young adults (ages 1 month to 25 years) with low-grade glioma or plexiform neurofibroma that has not responded to prior treatment. Participants take a daily oral dose for up to 18 cycles. The study aims to see if the dr…

This study tests a weight management and health behavior program for people with BRCA or Lynch syndrome mutations, who have a higher risk of certain cancers. Participants receive diet tracking, exercise guidance, phone coaching, and online support to help them lose weight and ado…

This phase 2 trial is testing a daily pill called belzutifan in 50 people with VHL disease who have kidney cancer. The goal is to see if the drug can shrink tumors. Researchers are also monitoring how long any tumor shrinkage lasts and checking for side effects.

This was a planned early-stage study of a new drug called TER-1754 for people with hereditary hemorrhagic telangiectasia (HHT), a condition that causes frequent nosebleeds and abnormal blood vessels. The trial aimed to test safety and find the right dose, but it was withdrawn bef…

This study tests whether deep brain stimulation (DBS) can improve thinking and memory in people with early Alzheimer's disease. Two participants will have electrodes implanted in a brain area that produces a key chemical for memory. The goal is to see if daily, one-hour stimulati…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder that affects movement and brain function. The drug aims to reduce the harmful effects of the mutated AT…

This study tests a custom-made genetic medicine (called an antisense oligonucleotide) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare inherited brain disorder. The treatment aims to reduce seizures and improve quality of life. Only one participan…

This study looks at whether injecting special stem-like cells called Muse cells directly into the ovaries can help women aged 28 to 70 who are in perimenopause. The cells may repair tissue, reduce inflammation, and improve hormone balance. Researchers will track safety, hormone l…

This study looks at the long-term safety of everolimus in people with tuberous sclerosis complex (TSC) who have seizures that are hard to control. Participants are already taking everolimus and benefiting from it in an earlier study. The goal is to see if the drug remains safe an…

This study tests whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This phase 2 trial is testing whether a combination of two drugs, dasatinib and quercetin, is safe and feasible for people with early-stage Alzheimer's or mild cognitive impairment. The drugs aim to clear aging 'senescent' cells that may contribute to brain damage. 48 participant…

This study was designed to see if giving calcium right away to trauma patients who need large blood transfusions could help their blood clot better, reduce the need for more transfusions, and improve survival. The trial was withdrawn before enrolling any participants, so no resul…

This early-phase trial tests an experimental drug called radiprodil in 30 people with tuberous sclerosis complex or focal cortical dysplasia type II whose seizures have not responded to at least two other medications. The study is open-label, meaning everyone gets the drug, and w…

This phase 2 trial tests a gel containing sirolimus (PTX-022) on 15 people with visible venous malformations on the skin. The goal is to see if the gel is safe and can improve the appearance and symptoms of these abnormal veins. Participants apply the gel daily for 12 weeks, and …

This study tests the drug selumetinib in adults with neurofibromatosis type 1 (NF1) who have painful, inoperable nerve tumors called plexiform neurofibromas. About 145 participants will receive either selumetinib or a placebo to see if the drug can shrink the tumors and reduce pa…

This Phase II trial tests whether combining lenvatinib and everolimus can shrink or slow advanced carcinoid tumors that cannot be removed by surgery. The study enrolls 36 adults with confirmed unresectable carcinoid tumors. Both drugs are taken orally and work by blocking enzymes…

This study tests whether a low dose of pazopanib, a drug currently used for cancer, can reduce severe nosebleeds and improve anemia in people with hereditary hemorrhagic telangiectasia (HHT). About 70 participants will take either the drug or a placebo daily for 24 weeks. Researc…

This study tests a new drug called VAD044 in 75 adults with hereditary hemorrhagic telangiectasia (HHT), a condition that causes frequent nosebleeds and anemia. The first part compares two doses of VAD044 against a placebo to see if it safely reduces the number, length, and sever…

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

This study tests a drug called selumetinib in adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink these tumors or slow their growth. Participants take the drug twice daily and are monitored …

This study looks at whether the drug bevacizumab can help people with a rare condition called hereditary hemorrhagic telangiectasia (HHT) who have severe liver problems leading to high heart output and possible heart failure. Researchers will check heart function before and after…

This trial is testing whether adding hydroxychloroquine to two targeted cancer drugs (dabrafenib and trametinib) can help children and young adults with certain brain tumors that have come back or not responded to treatment. The study includes patients with specific genetic chang…

This study tests a two-year follow-up program for 200 adults with hereditary cancer syndromes like BRCA or Lynch syndrome. Participants get personalized care plans and regular check-ins with a genetics doctor to help them follow cancer prevention and screening guidelines. The goa…

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

This study tests whether using focused ultrasound to temporarily open the blood-brain barrier can safely help standard antibody therapy reach the brain in people with mild Alzheimer's or mild cognitive impairment. About 15 participants will receive the combined treatment. The goa…

This phase II trial is testing whether combining two drugs—niraparib and panitumumab—can help people with advanced colorectal cancer that has spread. The study includes 26 patients whose cancer has not responded to at least one prior treatment. The goal is to see if the combinati…

This study tests a new drug called PMN310 in people with early Alzheimer's disease. The goal is to see if it is safe and if it can reduce signs of the disease in the brain. About 144 participants will receive multiple doses of the drug or a placebo. This is an early-phase trial, …

This phase II trial tests whether aspirin can delay tumor growth and maintain hearing in people with vestibular schwannoma (acoustic neuroma), a non-cancerous brain tumor. About 97 participants are randomly assigned to take aspirin or a placebo twice daily. The study tracks how l…

This study tests whether injecting doxycycline directly into skin schwannomas can shrink them in people with neurofibromatosis type 2 (NF2). Nineteen participants will receive up to three injections per tumor, with the dose based on tumor size. The goal is to find a less invasive…

This study tests a modified Maze procedure done during heart surgery to treat atrial fibrillation, a common heart rhythm problem. About 151 adults with AFib scheduled for heart surgery will receive the procedure, which uses heat or cold to create scar lines in the heart and close…

This phase 4 trial tests whether empagliflozin, a diabetes drug, can safely slow kidney growth and preserve kidney function in 44 adults with rapidly progressing autosomal dominant polycystic kidney disease (ADPKD). Participants take either empagliflozin or a placebo for 18 month…

This study tests whether eating wild blueberry powder every day can lower blood pressure and improve blood vessel health in middle-aged and older men and postmenopausal women with slightly high blood pressure. Researchers will measure artery function and stiffness over time. The …

This Phase 3 study tests whether a gel containing patidegib can lower the number of new basal cell carcinomas (a type of skin cancer) on the face of adults with Gorlin syndrome. Participants apply the gel or a placebo to their face twice daily for a year. The study will compare h…

This study tests a combination of three drugs—cisplatin, romidepsin, and nivolumab—in people with advanced triple-negative breast cancer or BRCA-related breast cancer that has spread. The goal is to see if the combination can shrink tumors and control the disease. About 51 partic…

This study follows 62 adults with hereditary hemorrhagic telangiectasia (HHT) who previously took pomalidomide in a clinical trial. Researchers want to see if the drug safely reduces nosebleed severity and the need for iron or blood transfusions over time. Participants take pomal…

This study compares two ways to replace a narrowed heart valve in people with a bicuspid aortic valve (a common birth defect). One method is transcatheter aortic valve replacement (TAVR), a less invasive procedure using a tube inserted through a blood vessel. The other is traditi…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Li-Fraumeni syndrome is a rare genetic condition that greatly increases the risk of developing many types of cancer. This pilot study will test three advanced MRI techniques—whole body STIR MRI, DW-MRI, and PET-MRI—in 30 people with the condition to see how well they can detect v…

This study aims to make MRI scans clearer for people with heart arrhythmia (irregular heartbeat). Researchers will test two special imaging methods on 135 participants—105 with arrhythmia and 30 healthy volunteers—to see if they reduce blurry images caused by the irregular rhythm…

This study tests whether a special PET scan using [11C]acetate can detect early signs that the drug rapamycin is working in people with lymphangioleiomyomatosis (LAM), a rare lung disease. Seven adults with LAM and kidney tumors will get one or two scans over 3–6 months. The goal…

This study is developing a blood test to find early-stage tumors in people with hereditary cancer syndromes (high genetic risk for cancer). Researchers will collect blood samples and medical data from about 1,400 participants across Canada. They will also interview patients and d…

This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is …

This study is testing whether whole body MRI scans can help find cancers early in children and adults with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. About 150 participants will receive annual whole body MRI scans for four years to see if they keep…

This phase IIb trial tests whether a vaccine called Tri-Ad5, combined with an immune booster N-803, can prevent colon cancer in people with Lynch syndrome. The vaccine targets proteins found in precancer and cancer cells, aiming to train the immune system to destroy them. 186 par…

This study tests a surgery called radical fimbriectomy in women with BRCA mutations who are at high risk for pelvic cancer but want to keep their ovaries. The procedure removes the fallopian tubes, where many of these cancers start, while leaving the ovaries to produce natural ho…

This study tests different programs to help people at high risk for cancer (such as those with BRCA or Lynch syndrome) or cancer survivors increase their physical activity and eat healthier. The goal is to see which programs work best to reduce cancer risk. About 337 participants…

This early-stage study tests an experimental vaccine designed to prevent cancer in adults with BRCA1 or BRCA2 gene mutations. The vaccine is given alone or with another drug, followed by a mild electric pulse to help it enter cells. Researchers want to see if it is safe and wheth…

This study tests if a drug called dalargin can prevent serious organ problems like kidney injury, lung failure, or heart damage after major abdominal surgery. About 200 adults having high-risk surgery will get either dalargin or a placebo for 3 days. The goal is to see if dalargi…

This study tests whether taking aspirin can prevent ovarian cancer in women with BRCA1 or BRCA2 gene mutations, who are at high risk. About 117 participants will take either aspirin or a placebo daily for up to 2 years before their scheduled risk-reducing surgery. Researchers wil…

This study looks at two types of surgery to prevent ovarian cancer in women aged 30-50 who have gene mutations that raise their risk. One surgery removes both the fallopian tubes and ovaries, while the other removes only the tubes first and delays removing the ovaries. The goal i…

This study tests whether a safe, painless brain stimulation technique called tDCS can improve verbal learning in people with Alzheimer's disease. Researchers will compare active stimulation to a sham (fake) version in 90 participants with typical or language-based Alzheimer's. Th…

This study looks at whether auto-captioning glasses are easy and helpful for adults with NF2-related schwannomatosis who have hearing loss. Eighteen participants will use the glasses for 12 weeks and report their experience through surveys and interviews. The goal is to see if th…

This study tests a specially adapted stress management program called 3RP-VHL for adults with von Hippel-Lindau disease (VHL), a genetic condition that causes tumors. The program teaches relaxation and resilience skills through 8 video sessions. Researchers want to see if it is f…

This study tests whether monthly alexandrite laser treatments can safely shrink or improve the look of skin tumors in adults with neurofibromatosis type 1 (NF1). Ten participants will receive up to six monthly laser sessions, with some areas treated with cooling and others withou…

This study tests whether taking a special olive oil (high in a compound called oleocanthal) along with curcumin (the active part of turmeric) is safe and might help shrink skin tumors in adults with neurofibromatosis type 1 (NF1). About 23 participants take the supplements twice …

This early-stage trial tests whether monthly injections of Kybella (a drug that dissolves fat) can safely shrink skin tumors in people with Neurofibromatosis Type 1. Up to 15 adults will receive up to 6 monthly treatments, and researchers will compare treated and untreated tumors…

This study looks at whether a ketogenic diet (high-fat, low-carb) is practical and safe for people with early-stage Alzheimer's disease over one year. The diet may provide an alternative energy source for the brain and reduce inflammation. Researchers will track diet adherence, b…

This study tests whether a non-invasive brain stimulation technique called theta-burst stimulation (TBS) can improve cognitive function in people diagnosed with young-onset Alzheimer's disease (before age 65). Seventy participants will receive TBS to a specific brain area, and re…

This study looks at whether a gentle brain stimulation technique (tDCS) combined with a special exercise program can reduce symptoms of spinocerebellar ataxia, a disease that affects coordination and balance. Fifteen adults who can walk (with or without help) will receive either …

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study tests a small device that delivers mild electrical stimulation to the perineum (the area between the scrotum and anus) to help men who leak urine after prostate removal surgery. Thirty men who are scheduled for robotic prostate surgery and already use at least one pad …

This study tests a 6-week group program called Working Out Dads (WOD) to see if it helps reduce mental health struggles in fathers of children aged 0-4. About 293 dads with mild to moderate distress will either join the WOD peer-support group or receive usual care. The goal is to…

This study compares two tools, piezotome and periotome, used for gentle tooth extraction before placing a dental implant right away in the front upper teeth. The goal is to see which tool better preserves bone and gum tissue, leading to improved healing and appearance. Thirty adu…

This study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…

This study tests if shining a special near-infrared light on the head and through the nose can improve memory and brain function in older adults at risk for Alzheimer's disease. The treatment, called photobiomodulation, is low-risk and aims to boost brain cell energy. 168 partici…

This pilot study tests a short online program called 'Well-Beans for Caregivers' for adults caring for someone with tuberous sclerosis complex (TSC). The program consists of three weekly 2-hour sessions based on Acceptance and Commitment Therapy to help caregivers cope with diffi…

This study tests a special needle with a tiny tracking device inside, like a mini GPS, to help doctors find tumors that are hard to see on CT scans. About 3,900 adults with certain cancers or growths will have their biopsy or ablation procedure done using this smart needle. The g…

This study observes 80 children with Marfan syndrome to understand how the condition impacts their quality of life, self-image, and ability to manage their health. Participants fill out questionnaires about their well-being and medication habits. The goal is to identify who might…

This study looks for biological markers in the blood and tissue of adults with Marfan syndrome that could signal when an aortic aneurysm is dangerous enough to require surgery. Researchers will compare three groups of Marfan patients: those without aortic aneurysms, those with st…

This study follows 25 people with spinocerebellar ataxia type 7 (SCA7) for up to 5 years to learn how the disease changes vision, coordination, and thinking. Participants will have yearly eye exams, brain scans, and neurological tests. No treatment is given; the goal is to gather…

This study follows 154 people taking Epidiolex (cannabidiol) for seizures caused by Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. Researchers will monitor for signs of chronic liver injury and fibrosis over time using blood tests and liver scans. The go…

This observational study collects extra tumor tissue from 416 people with various cancers (bladder, kidney, colorectal, head and neck, liver, lung, skin, endometrial) during routine biopsies. The goal is to develop and train a 'live tumor diagnostic platform' that can predict whe…

This study is a national registry in China that will track 500 women who experience an aortic dissection (a tear in the main artery) during pregnancy or within 12 weeks after giving birth. Researchers will collect information on treatments and outcomes for both mothers and babies…

This study is building a large gene bank by collecting blood samples and health information from nearly 10,000 people who have had heart catheterization or cardiac CT scans. The goal is to identify genetic and other factors that contribute to coronary artery disease. Participants…

This natural history study follows 259 children, adolescents, and adults with Neurofibromatosis Type 1 (NF1) for up to 10 years. Researchers will track tumor growth, monitor quality of life, and perform genetic testing to better understand how the disease changes over time. The g…

This study looks at people and families who have a high risk of cancer to learn what genes and environmental factors might increase that risk. Over 5,000 participants are followed over time with questionnaires, medical records, and optional genetic testing. No treatment is given,…

This study uses a radioactive tracer called [18F]MK-6240 to take detailed pictures of tau protein clumps in the brain, a hallmark of Alzheimer's disease. Researchers will scan 200 people from families with a rare genetic form of Alzheimer's to see how tau buildup changes over tim…

This 5-year study follows 250 people with von Hippel-Lindau disease who have brain or spinal cord tumors. Researchers use regular MRI scans and blood tests to see how fast tumors grow and what factors like hormones might affect growth. The goal is to better understand which tumor…

This study uses advanced CT scans to look for fat and scar tissue inside the heart. Researchers want to see if these findings can help predict who is at risk for dangerous heart rhythms. About 110 adults with heart disease who already have a defibrillator or need one will get a C…

This study looks at skin cells (fibroblasts) from people with Marfan syndrome and other genetic conditions that cause thoracic aortic aneurysms (a bulging of the main artery in the chest). Researchers want to find out how these cells behave differently and what genes or proteins …

This Stanford study is testing whether non-intrusive sensors placed in the home can automatically track neuropsychiatric symptoms like mood changes and agitation in older adults. Researchers will enroll 25 participants with or at risk of mild cognitive impairment or dementia, alo…

This study is creating a statewide collection of blood samples and medical information from people with various brain blood vessel diseases, such as stroke and dementia. The goal is to build a resource that scientists can use in future research to better understand and potentiall…

This study follows 430 people with Cowden's disease (a PTEN gene mutation) to better understand their risk of developing cancer. Researchers will track how many participants get cancer over time. The goal is to improve monitoring and care for this high-risk group.

This study aims to understand why kidney tumors in people with VHL syndrome can be different from each other. Researchers will use advanced imaging, multiple biopsies, and lab-grown tumor models to map these differences. The goal is to learn more about the disease, not to test a …

This study asks 200 adults with von Hippel-Lindau syndrome to fill out an anonymous online questionnaire about their quality of life, psychological well-being, and difficulties accessing care. No treatment or medical tests are involved — the goal is simply to learn what patients …

This study was designed to see if a smartphone app called iBlink can measure how well the brain learns new movements in people with spinocerebellar ataxia, a rare and serious movement disorder. Researchers planned to compare aerobic exercise with balance training to see which bet…

This study looks at whether a 25-minute hydration education session plus a self-assessment worksheet can help wildland firefighters and other active people drink more fluids and stay hydrated. About 38 participants who are underhydrated will be split into two groups: one gets the…

This study looks at whether losing weight over two years can improve how the kidneys use oxygen and how the body responds to insulin in people with autosomal dominant polycystic kidney disease (ADPKD) who are overweight. Researchers will use PET scans and insulin tests to measure…

This study is for people with autosomal dominant hypocalcemia types 1 or 2, rare genetic conditions that cause low blood calcium. Researchers will collect past and future health data from 95 participants to learn how the disease changes over time. The goal is to better understand…

This study is creating a registry of people with Hereditary Hemorrhagic Telangiectasia (HHT), a rare condition that causes abnormal blood vessels and frequent nosebleeds. Researchers will collect health information from about 1,000 adults over many years to see how the disease ch…

This study looks at 401 people with autosomal dominant polycystic kidney disease (ADPKD) to see how different versions of the PKD1 gene relate to patient traits like age at diagnosis and body size. Researchers are not testing any treatment—they are simply gathering information to…

This study evaluates a program that aims to improve diets by making healthy foods like fish, chicken, and eggs more available and affordable for low-income households in Mozambique. Researchers will survey over 5,000 men and women to see if the program increases how often they ea…

This study gathers health questionnaires from up to 1,500 people with multiple endocrine neoplasia (MEN1 or MEN2) and their close relatives. The goal is to build a database that helps researchers better understand these rare inherited conditions. No new treatments or procedures a…

This study looks at how certain blood chemicals and blood vessel function relate to kidney disease severity in people with early-stage Autosomal Dominant Polycystic Kidney Disease (ADPKD). Researchers will measure homocysteine levels and blood vessel health in 80 participants age…

This study uses special brain scans (PET imaging) to measure two key proteins, amyloid and tau, in people with different forms of Alzheimer's disease. Researchers want to see how these protein levels change over one year. The study involves 60 adults with typical or atypical Alzh…

This study collects health information and test results from 317 people at high risk for pancreatic cancer, including those with cysts, genetic syndromes, or other risk factors. Researchers aim to build a database to find better ways to detect the disease early or prevent it. No …

This study is looking for the genetic causes of bicuspid aortic valve disease, a common heart condition where the aortic valve has two flaps instead of three. Researchers will analyze DNA from 11,000 participants, including patients and their relatives, to find gene changes linke…

This study is observing 4,500 people who need pacemakers or similar heart devices. The goal is to create a tool that predicts who is at risk of developing a weakened heart from the device itself. By identifying high-risk patients early, doctors can choose better pacing methods to…

This study from Mayo Clinic is creating a large collection of blood, urine, stool, spinal fluid, and skin samples from 1000 people with ataxia and related genetic diseases, plus their healthy family members. The goal is to better understand the genetic and physical features of th…

This study monitors the safety of selumetinib in children aged 3 to 18 with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas. Researchers will track potential side effects on the heart, bones, muscles, liver, eyes, and puberty. The goal is to better un…

This study looks at how diet and exercise affect the epigenome—chemical marks on DNA—in sperm of overweight Hispanic men. Researchers will compare sperm from 20 healthy active men and 80 obese inactive men before and after a 12-week program of diet, exercise, or both. They will a…

This study looks at whether a website and a genetic family navigator can help more relatives of people with hereditary cancer get genetic testing. About 205 participants will use the online hub and work with a navigator to learn about their cancer risk. The goal is to see if this…

This study uses a portable 48-hour EEG monitor to check for hidden seizures in people with early-onset Alzheimer's disease (ages 40-64). Researchers want to learn how common seizures and epilepsy are in this group. The study involves 20 participants and is purely observational, m…

This study looks at whether watching an online genetics video, with or without phone counseling from a genetic counselor, can reduce the stress women feel about their cancer risk. It involves 5,200 women aged 30 or older who have had triple-negative breast cancer and still have a…

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

This study looks at how bacteria living in the gut and diet might influence colorectal cancer risk in people with Lynch syndrome and other inherited colon conditions. Researchers will collect stool samples, colon biopsies, and diet questionnaires from 77 participants during routi…

This study looks at how different ways of helping children breathe during general anesthesia might affect the success of a heart procedure called radiofrequency ablation. The procedure uses heat to fix abnormal heart rhythms. The study will compare two breathing methods in 100 ch…

This study collects kidney tissue from 100 adults with autosomal dominant polycystic kidney disease (ADPKD) who are already scheduled for kidney removal. Researchers will analyze the tissue for additional genetic mutations that may drive cyst formation. The goal is to better unde…

This study looks at whether using a robot to remove one kidney in people with autosomal dominant polycystic kidney disease (ADPKD) is safe and effective compared to traditional open surgery. Researchers will track 57 adult patients to see if the robotic approach leads to fewer co…

This study is testing a new type of ultrasound called super-resolution ultrasound (SRU) to get a detailed look at the tiny blood vessels in the kidneys. Researchers will compare images from 34 people with ADPKD and healthy volunteers to see if SRU can detect differences in blood …

This study follows 80 people with Neurofibromatosis type 1 (NF1) who are at high risk for developing malignant peripheral nerve sheath tumors (MPNST). Researchers will use yearly whole-body MRI scans, blood samples, and checkups to track changes in nerve lesions over time. The go…

This study follows 432 adults who were in the ICU after a traumatic injury or burn. Researchers want to see if and why patients develop long-term problems with memory, thinking, and daily function. By tracking cognitive skills and inflammation over time, they hope to uncover link…

This study looks at whether people with Lynch Syndrome—a condition that raises the risk for several cancers—follow recommended screening guidelines after genetic counseling. Researchers will track about 1,530 participants to see who gets the suggested tests and what factors help …

This study tests whether providing an information letter plus a booklet helps relatives of people with Lynch syndrome decide about genetic counseling and testing. About 185 untested relatives will be randomly assigned to receive either a basic letter or a letter plus a detailed b…

This study gathers information from 1,000 adults who have or will receive a cardiac implantable electronic device (CIED) for heart rhythm problems like bradycardia or tachycardia. Researchers collect details about the device, the implant procedure, and patient characteristics to …

This study tests whether a culturally-informed telephone counseling program can help Latina women at high risk for hereditary breast or ovarian cancer learn more about their risk and feel more in control. About 493 women with a personal or family history of these cancers will tak…

This study from Mayo Clinic is looking at 100 people with autosomal dominant polycystic kidney disease (ADPKD) to see if certain markers in the blood and urine can predict how fast their kidney disease gets worse. Researchers will measure kidney size and function over time and co…

This study follows 500 people with neurofibromatosis type 1 (NF1) to see how their skin tumors (called cutaneous neurofibromas) grow and change over time. Researchers use 3D whole-body photography to track tumor number and size each year. The goal is to better understand these tu…

This study checks how well a small, wearable heart monitor (Zio monitor) works when worn for up to 30 days. About 150 adults will wear the device to see how long it stays on, how much usable heart data it records, and if it causes any skin irritation. The goal is to make sure the…

This study looks at whether yearly MRI scans can find new head and neck or brain cancers early in people who had hereditary retinoblastoma and were treated with radiation. Researchers will follow 88 participants for 10 years to see if early detection leads to better surgery outco…

This observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is…

This observational study reviews medical records from 70 adults with advanced autosomal dominant polycystic kidney disease (ADPKD) who are already taking the drug octreotide LAR. Researchers want to see if baseline kidney volume and other factors can predict how quickly kidney fu…

This study aims to find blood-based biomarkers that signal the presence and size of plexiform neurofibromas in people with Neurofibromatosis type 1 (NF1). Researchers will collect blood samples and use whole-body MRI to compare biomarker levels in 200 participants with different …

This study looks at whether artificial intelligence can create realistic, privacy-safe copies of health records from people with a rare kidney disease called ADPKD. Researchers will use these simulated datasets to run virtual clinical trials and see if they produce similar result…