Autosomal dominant disease

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

This study tests whether a low-carbohydrate, plant-based diet can lower inflammation in people with autosomal dominant polycystic kidney disease (ADPKD). Thirty-six adults will try the special diet and their usual diet in random order, each for 12 weeks. The main goal is to see i…

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

This study tests an experimental drug called ATV-1601 in people with moderate to severe HHT, a condition that causes frequent nosebleeds and anemia. The trial has two parts: first, participants receive either the drug or a placebo to check safety and effectiveness; then, all elig…

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

This study tests whether a wearable monitoring system (ECG patch, temperature patch, and pulse oximeter) can reduce major heart complications in hospitalized patients with heart disease. About 1500 adults will be monitored either with standard care (vital signs every 4-8 hours) o…

This study tests whether a wearable goggle system that makes parathyroid glands glow can help surgeons find and protect them during thyroid removal. About 280 adults having thyroid surgery will take part. The goal is to reduce the risk of low calcium levels after surgery, a commo…

This first-in-human trial tests a genetic drug called TS1-ASO in 5 children with Timothy Syndrome, a rare condition causing severe heart and brain problems. The drug is injected into the spine to target the genetic root of the disease. The main goal is to check safety and how the…

This early-stage study tests whether a focused ultrasound can safely and temporarily open the brain's protective barrier in people with early Alzheimer's disease. The goal is to see if this helps clear harmful amyloid and tau proteins that build up in the brain. Six participants …

This study will follow 100 adults with von Hippel-Lindau (VHL) disease who choose to take belzutifan. Researchers will track how well the drug shrinks tumors, its side effects, and its impact on quality of life and healthcare costs. The goal is to better understand the drug's rea…

This study tests whether low-dose radiation to the whole brain can slow down Alzheimer's disease in people with early-onset symptoms. Fifty participants will be randomly assigned to receive either the radiation treatment or a sham procedure. Researchers will track changes in memo…

This study tests whether bempedoic acid, a drug already approved for high cholesterol, can safely slow the progression of autosomal dominant polycystic kidney disease (ADPKD). About 120 adults with rapidly progressing ADPKD will receive either the drug or a placebo for two years.…

This Phase 2 trial tests whether umbilical cord stem cells can safely improve movement and coordination in people with spinocerebellar ataxia (types 1, 2, 3, and 6). Forty-five participants will receive the cells through an IV and a spinal injection. The main goal is to see if sy…

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

This study tests whether a drug called a PCSK9 inhibitor (Tafolecimab) can slow the progression of mild to moderate calcific aortic stenosis, a condition where the heart valve narrows and hardens. Researchers will give the drug to half of 160 participants and compare changes in v…

This pilot study tests whether a carefully supervised ketogenic diet can help people with Marfan syndrome who have a chronic aortic dissection avoid surgery for one year. Fifteen adults aged 18-50 will follow the diet with guidance from a dietitian, measure their blood ketones at…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant …

This early-stage trial tests whether stem cells and their exosomes (tiny particles that help cells communicate) can safely improve movement in people with spinocerebellar ataxia, a condition that affects coordination and balance. Ninety participants will receive the treatment thr…

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

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

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

This study tests whether a 12-month diet low in salt, caffeine, protein, and carbs, but high in potassium and water, can slow kidney cyst growth in 30 adults with ADPKD. Participants are split into diet and regular diet groups. The goal is to see if the diet reduces cyst progress…

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

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

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

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

This study will enroll 5000 adults to see if a one-minute, single-lead ECG, analyzed by machine learning, can detect heart conditions like high blood pressure, heart failure, and diabetes. Participants will have their ECG recorded twice and compared with full medical exams. The g…

This study tests whether a simple saliva swab can find genetic causes of neurodevelopmental or intellectual disorders when standard blood tests have not. Researchers will use advanced DNA sequencing on cheek cells from 50 participants. The goal is to improve diagnosis and help gu…

This study tests whether annual liquid biopsies (from blood, urine, stool, and vaginal swabs) can safely replace colonoscopies every 18 months for people with Lynch syndrome. 2,000 participants will be split into two groups: one gets standard care (colonoscopy every 18 months), t…

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

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

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

This study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

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

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

This observational study will measure thyroid hormone levels in stored blood and urine samples from 51 people with severe chronic kidney disease (stages 4 and 5). Researchers aim to understand how these hormones differ in patients with and without polycystic kidney disease. The s…

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

This study will collect blood samples and medical information from 600 adults with rare diseases affecting blood vessels in the brain and eye, such as CADASIL and cavernous angioma. The goal is to create a long-term biobank that researchers can use to find biomarkers and better u…

This study looks at 150 people with persistent atrial fibrillation (a type of irregular heartbeat) who are scheduled for a heart procedure called ablation. Researchers want to see if levels of a protein called BDNF in the blood are linked to signs of heart muscle damage (atrial c…

Denys-Drash syndrome is a rare genetic condition that causes kidney failure in early childhood, often requiring a transplant. Past research suggests these children have a much higher chance of developing a type of lymphoma after transplant compared to other kids. This study will …

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

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

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

This study looks at 128 adults having gallbladder surgery to see if using a low-flow (more eco-friendly) versus normal-flow sevoflurane anesthesia changes heart electrical signals linked to dangerous rhythms. Researchers will measure these signals before, during, and after surger…

This early-stage study tests how a new drug called JMKX003142 interacts with other common medications in 112 healthy Chinese adults. The drug is being developed for autosomal dominant polycystic kidney disease (ADPKD). Researchers will measure how the body processes JMKX003142 wh…

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

This study looks at whether re-sterilized (reprocessed) catheters work as well as new ones for heart ablation procedures. About 200 adults needing this treatment will be randomly assigned to get either a new or a reprocessed catheter. Researchers will compare how long the procedu…

This study looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…

This study looks at how hereditary hemorrhagic telangiectasia (HHT) affects the quality of life of children and young adults aged 2 to 25. Participants will fill out questionnaires about their physical, emotional, and social well-being. Researchers will also review medical record…

This early-stage study checks whether a single dose of JMKX003142 affects the heart's electrical activity in 24 healthy Chinese adults. Participants will be randomly assigned to receive the drug or a placebo. The goal is to see if the drug causes any changes in heart rhythm, not …

This phase 1 trial will enroll 8 healthy Chinese men to study how the experimental drug JMKX003142 is absorbed, broken down, and eliminated from the body. Participants will receive the drug in both pill and IV forms, some with a radioactive tracer. The study aims to measure the d…

This observational study will follow 50 children aged 5 to 8 with non-progressive congenital ataxia, a rare condition that affects movement and coordination. Researchers will use detailed exams, brain scans, and genetic testing to better understand the disorder and its impact on …

This study will look at 118 adults with Marfan syndrome to understand why they may not be physically active. Researchers will measure factors like fear of movement, fatigue, pain, and heart health. The goal is to identify what predicts low activity levels, which could help improv…

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

This study will follow 1,100 people with atrial fibrillation who have a pulsed field ablation procedure. The goal is to find out which patient traits and procedure details make a repeat ablation more likely. Researchers will track heart rhythm problems and side effects for one ye…

This early-stage study tests how a new drug called JMKX003142 interacts with two common medications—amiodarone (for heart rhythm) and febuxostat (for gout)—in 48 healthy Chinese adults. Participants will take the drugs in sequence to measure how their bodies process them. The goa…

This study will review medical records of 150 people with Marfan syndrome or Ehlers-Danlos syndrome to understand bone mineralization and fracture risk. Researchers will look at past bone density scans and health data to see how bone health changes over time. The goal is to learn…