Cardiogenetic disease

This early-stage trial tests a single intravenous dose of AFTX-201, a gene therapy designed to deliver a working copy of the BAG3 gene to heart cells. It enrolls 22 adults aged 18–55 with dilated cardiomyopathy and a BAG3 mutation. The study primarily checks safety and tolerabili…

This study follows 30 people with Alagille syndrome who are taking odevixibat (Bylvay) in their daily lives. The goal is to see if the drug helps them avoid serious surgeries like liver transplant or bile duct repair over the long term. Researchers will also track weight, height,…

This study tests whether a two-month hormone pretreatment (GnRH agonist plus letrozole) before standard frozen embryo transfer can improve live birth rates in women with adenomyosis. About 222 participants will be randomly assigned to either the new regimen or standard care. The …

This Phase 3 trial tests whether DYNE-101 can improve muscle function and daily life in 150 adults with myotonic dystrophy type 1 (DM1). Participants receive either the drug or a placebo by IV every few weeks for 48 weeks. The study measures how quickly people can stand from a ch…

This early-stage trial tests a one-time gene therapy called RP-A701 in 8 adults with dilated cardiomyopathy caused by a faulty BAG3 gene. The therapy uses a harmless virus to deliver a working copy of the gene, aiming to improve heart function. The main goal is to check safety, b…

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This early-stage trial is testing a new drug called DNL952 in 32 adults with late-onset Pompe disease. The main goal is to check if the drug is safe and how the body processes it. Participants will receive the drug through an IV infusion at different doses.

This phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…

This phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

This study follows 230 children with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC) who are taking Livmarli, a drug to reduce bile buildup and itching. Researchers will monitor side effects, liver function, and long-term outcomes like need for transplan…

This study tests whether taking a daily fiber and magnesium supplement (WellBiome) for 6-8 weeks before heart surgery can improve recovery. Researchers will compare ICU time, complications, and hospital stay between 80 patients who get the supplement or a placebo. The goal is to …

This Phase 3 trial tests a gene therapy called FLT201 for adults with Gaucher disease type 1. The goal is to see if a single dose can keep blood counts stable so patients can stop their regular enzyme replacement or substrate reduction therapy. The study will enroll 45 people who…

This study tests an experimental oral drug called S-606001 in 45 adults with late-onset Pompe disease. Participants take the drug or a placebo on top of their standard enzyme replacement therapy. The main goal is to see if the drug improves lung function and walking ability over …

This large phase 3 trial is testing whether adding vicadrostat to the existing drug empagliflozin can reduce the risk of heart problems in adults with type 2 diabetes, high blood pressure, and heart disease. About 11,800 participants will take either the combination or a placebo …

This 24-month study tests whether adding umbilical cord stem cells (AdiaVita) to glutathione therapy helps improve autism symptoms in children ages 3-12. About 100 kids will be randomly assigned to get either glutathione alone or glutathione plus stem cell infusions. Parents and …

This study tests whether a caregiver-led telehealth program can help autistic children ages 5 to 12 who still have bowel accidents after completing treatment for bedwetting. About 150 children will take part. The program teaches caregivers strategies to manage encopresis, with th…

This early-stage study tests a new medicine called AZD4063 in 31 adults with a specific genetic form of dilated cardiomyopathy (PLN R14del). The main goal is to check the drug's safety and how the body processes it. Participants receive the drug as an injection under the skin and…

This early-stage study tests a one-time gene therapy called ALXN2350 for adults with a specific genetic heart condition (BAG3-related dilated cardiomyopathy). The heart muscle becomes weak and enlarged, making it hard to pump blood. The treatment aims to fix the faulty gene to im…

This study follows 140 patients in Indonesia who received the HeartR PDA Occluder, a device that closes a common heart defect called Patent Ductus Arteriosus (PDA). The goal is to see if the device works well and is safe over 12 to 24 months. Patients must be at least 6 months ol…

This study follows 180 people who receive the CeraFlex PFO Closure System, a device that closes a small hole in the heart called a patent foramen ovale (PFO). The goal is to see how well the device works in everyday medical practice, especially for patients with migraines or stro…

This study looks at the long-term safety of the drug pelacarsen in people with high lipoprotein(a) and heart disease. About 5,700 participants who finished a previous pelacarsen trial will receive the drug and be monitored for side effects and heart events. The goal is to see if …

This early-stage trial tests the safety and tolerability of a new drug called VX-670 in 52 adults with myotonic dystrophy type 1 (DM1), a genetic condition that causes muscle weakness and other problems. Participants receive either VX-670 or a placebo, and researchers will monito…

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 is testing a pacemaker lead placed in a specific area of the heart called the left bundle branch area. The goal is to see if this placement is safe and helps the heart beat more naturally in people with slow heart rates. About 140 participants will get the lead and be …

This study tests a pre-set treatment plan for managing heart rhythm issues that can occur after transcatheter aortic valve replacement (TAVR). The goal is to reduce the number of patients who receive a permanent pacemaker while ensuring no one is put at risk of sudden cardiac dea…

This early study tests a new device that uses a special wire with radiofrequency energy to safely cross the wall between the heart's upper chambers. This step is needed for procedures that treat heart rhythm problems or close the left atrial appendage. The study will enroll 60 ad…

This study tests a gene therapy called SAR446268 for people aged 10 to 55 with myotonic dystrophy type 1. The therapy is given once through an IV and aims to reduce harmful DMPK RNA and improve muscle function. The trial has two parts: first, finding the safest dose in a small gr…

This early-stage trial tests a single dose of SGT-501, a gene therapy given by IV, in 18 people with a rare inherited heart condition called CPVT that can cause dangerous fast heartbeats during exercise or stress. The main goal is to check safety and find the right dose in adults…

This study tests an experimental daily pill, danicamtiv, in 332 people with genetic or familial dilated cardiomyopathy (a weakened, enlarged heart). Participants take the drug or a placebo for about 6 months to see if it improves heart function and exercise ability. The goal is t…

This study tests whether a combination of umbilical cord stem cells and glutathione can safely improve autism symptoms in 100 people aged 3 and older. Participants receive either the stem cell product plus glutathione, or a placebo plus glutathione, with the option to switch grou…

This study tests a method to sort sperm by gender (X or Y chromosome) using a density gradient. The goal is to help couples undergoing IVF or insemination have a baby of a desired sex, for medical or personal reasons. About 2000 couples will take part, and researchers will check …

This study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…

This study is tracking 145 people who have a hole in their heart (atrial septal defect) and received the CeraFlex closure device. Researchers want to see how well the device works in real-world settings, focusing on safety and successful closure of the hole at 6 months. The devic…

This study looks at how safe and effective a less invasive heart valve replacement (called Sapien 3 TAVR) is for younger patients (ages 50-70) in China with severe aortic stenosis. Researchers will track 450 participants for up to 5 years to see survival rates and complications. …

This early-stage study tests a single intravenous dose of a gene therapy called LY3884961 in 15 adults with Gaucher disease type 1. The goal is to see if it is safe and can reduce or replace the need for ongoing enzyme replacement or substrate reduction therapy. Participants must…

This study is testing a digital app called VIRTUES that provides educational resources and treatment recommendations for heart conditions like atrial fibrillation and heart failure. Researchers will enroll 2000 patients across 11 modules to see if the app is easy to use and helps…

This study tests whether spironolactone, a common diuretic, can improve learning and behavior in children aged 3–10 with NCOR gene mutations, which are linked to autism spectrum disorder. Only 2 children will be enrolled, and researchers will measure changes in intelligence and a…

This phase 3 trial is testing whether adding baxdrostat to the standard drug dapagliflozin can better prevent heart failure and cardiovascular death in people with type 2 diabetes who already have heart disease and high blood pressure. About 11,300 participants will receive eithe…

This study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…

This study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

This study tests a new medicine, DYNE-101, in 116 adults with myotonic dystrophy type 1 (DM1), a condition that causes muscle weakness and stiffness. The main goals are to check if the drug is safe and if it can reduce muscle stiffness and improve muscle function. Participants re…

This study tests a new device called the CellFX nsPFA catheter, which uses short electrical pulses instead of heat to treat paroxysmal atrial fibrillation (a type of irregular heartbeat). The goal is to see if it is safe and effective at restoring normal rhythm in 215 adults who …

This study tests a new device called the CellFX Nano-PFA 360 catheter, which uses very short electrical pulses to treat atrial fibrillation (an irregular heartbeat). About 60 adults aged 18 to 75 with paroxysmal atrial fibrillation will receive this procedure. The goal is to see …

This study tests whether a special activity score, calculated from heart rate data, can help people who have completed cardiac rehab stick to exercise guidelines. About 318 participants will wear a smartwatch for 4 months and do an exercise test at the end. Researchers will compa…

This study tests a device called GORE® CARDIOFORM Septal Occluder to close a small hole in the heart (PFO) in people who have had a stroke with no clear cause. About 636 participants will get the device plus blood-thinning medicine. The goal is to see if this reduces the chance o…

This study compares two methods for closing the breastbone after open-heart surgery: rigid plate fixation (using a metal plate and screws) versus traditional wire cerclage (using stainless steel wires). The trial will enroll 250 adults at high risk for wound complications, such a…

This study tests whether text messages can help people who have finished cardiac rehab keep up healthy habits like weight management, physical activity, and taking medications. Researchers will enroll 400 people from groups often left out of heart research. The study compares dif…

This study tests an investigational drug called PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a condition causing muscle stiffness and weakness. Participants receive multiple doses of the drug or a placebo by IV to check safety and how the body processes it. The goal is…

This study tests a device called Efferon LPS that filters harmful substances from the blood during and after heart surgery. The goal is to see if it can reduce the risk of multiple organ failure, a serious complication. Researchers will enroll 60 adults having heart surgery with …

This early-stage trial tests a single intravenous dose of a gene therapy called RP-A601 in 9 adults with a genetic heart condition (PKP2-ACM) that causes dangerous heart rhythms and heart failure. The therapy delivers a working copy of the PKP2 gene to heart cells to restore prot…

This study tests whether genetic testing can help veterans at high risk for heart disease start and stick with statin medications. About 410 veterans aged 40-75 with diabetes or heart disease who are not currently taking statins will receive either a genetic report on their stati…

This study tests a new method called decrement evoked potential (DeEP) mapping to guide catheter ablation for ventricular tachycardia (VT) in people with structural heart disease. VT is a fast, dangerous heart rhythm that can cause sudden cardiac arrest. The standard ablation pro…

This study tests whether giving two medicines (acetaminophen and ibuprofen) together works better than ibuprofen alone to close a common heart blood vessel in extremely premature infants (born before 27 weeks). About 310 babies will take part. The goal is to see if the combo redu…

This study tests whether adding digital coaching to home-based cardiac rehabilitation helps veterans complete more rehab sessions and improve their heart health. 150 veterans with heart disease will be randomly assigned to standard home rehab or home rehab plus a private social m…

This study is testing the long-term safety of an experimental drug called PGN-EDODM1 in 48 adults with myotonic dystrophy type 1 (DM1) who have already taken the drug in a previous study. Participants will receive the drug by IV infusion and be monitored for side effects. The goa…

This study tests a single dose of NTLA-2001, a gene-editing therapy, in 1200 adults with transthyretin amyloidosis with cardiomyopathy (ATTR-CM), a condition where abnormal protein builds up in the heart. The goal is to see if it reduces heart-related deaths and events compared t…

This study tests whether closing a small hole in the heart (called a PFO) plus medication is better than medication alone at preventing repeat strokes in people over 60 who have had a cryptogenic stroke (a stroke with no clear cause). About 714 participants will be randomly assig…

This study involves 792 people aged 60-80 who had a stroke linked to a patent foramen ovale (PFO), a small hole in the heart. It compares three approaches: closing the hole with a device plus antiplatelet drugs, taking newer blood thinners (apixaban, dabigatran, or rivaroxaban), …

This study looks at whether people aged 60 or younger who had a stroke caused by a hole in the heart (PFO) can safely stop taking blood thinners one year after the hole is closed. The goal is to see if stopping these drugs reduces the risk of bleeding without increasing the chanc…

This study tests a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants will receive the drug through an IV every two weeks for about a year. The goa…

This study tests a new device that uses stitches to close a small hole in the heart (called PFO) in people who have had a stroke. It compares the stitch method to a standard metal plug device. About 640 adults aged 18-60 with a PFO and a recent stroke will be enrolled. The goal i…

This study looks at two ways to prevent another stroke in older adults who have a hole in the heart (PFO) and had a stroke from an unknown cause. One option is a procedure to close the hole, plus lifelong blood thinners. The other is taking blood thinners alone. Researchers will …

This study looks at whether people at moderate risk for heart problems should continue or stop taking aspirin before a colonoscopy. About 2,500 participants will be randomly assigned to take either aspirin or a placebo for a few days around the procedure. The goal is to see which…

This study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…

This study tests a new gene therapy called TN-201 in 30 adults with hypertrophic cardiomyopathy caused by a specific genetic mutation (MYBPC3). The therapy is given as a one-time IV infusion and aims to correct the underlying genetic defect. The main goals are to check safety and…

This study tests a noninvasive radiation treatment (SBRT) for people with ventricular tachycardia, a dangerous heart rhythm that can cause sudden death. The 12 participants have structural heart disease and have not been helped by standard treatments like drugs or catheter ablati…

This study tests a small device called C-MIC that is implanted without open-heart surgery to help people with heart failure. It includes 22 adults with weak heart pumping (ejection fraction between 25% and 50%) despite standard medications. The device delivers microcurrents to th…

This study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …

This study is testing a new heart valve (SAPIEN 3) in 108 people who have a dysfunctional right ventricle outflow tract (RVOT) due to a congenital heart defect or a previous valve replacement. The goal is to see if the valve is safe and effective at improving blood flow and reduc…

This study tests a new device (P3 Occluder) to close a small hole in the heart called a PFO in people who have had a stroke possibly linked to that hole. About 15 adults aged 18-65 will get the device and be followed for up to 5 years to see if it safely and effectively closes th…

This study tests a single, precise dose of radiation to the heart to treat dangerous arrhythmias in 60 patients who haven't improved with medication or standard procedures. Researchers will monitor changes in heart rhythm events and medication use over 18 months. The goal is to s…

This study tests a gene therapy called GS010 for people with Leber hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. Researchers will give the treatment as an injection into the eye at two different doses to see if it improves vision and mitoc…

This study tests an experimental drug called CRD-4730 in 12 adults with a rare inherited heart condition (CPVT) that can cause dangerous heart rhythms during exercise or stress. Participants will receive two different doses of the drug and a placebo in random order to see if it s…

This study compares a single dose of targeted radiation (SBRT) to the standard catheter ablation procedure for reducing dangerous heart rhythms in people with advanced heart disease. Sixty participants will be randomly assigned to one of the two treatments. The main goal is to se…

This study tests a program that uses an AI chatbot, health coach, and home monitoring devices to help 300 adults with heart disease, diabetes, or kidney disease manage their conditions. The goal is to see if this approach reduces hospital visits, complications, and deaths over 6 …

This study looks at whether low-dose beta-blockers can reduce dangerous heart rhythms in people who have survived a cardiac arrest with no clear cause. About 218 participants will receive one of several beta-blockers and be followed for up to 3 years. The goal is to see if this t…

This study compares a new type of heart pacing (His-bundle pacing) to standard pacing in 120 adults with heart failure and right bundle-branch block. The goal is to see if the new method better improves the heart's pumping ability over 6 months. Participants will receive one of t…

This study tests a new drug called ATX-01 in 56 adults with myotonic dystrophy type 1, a condition that causes muscle stiffness and weakness. The drug aims to block a molecule that may contribute to the disease. The trial will first give a single dose, then multiple doses, to che…

This study tests a program called CVD-FIT for African American adults who struggle to afford food and are at risk for heart disease. Participants get monthly income support, weekly incentives to buy healthy food, and phone-based education on heart health. The goal is to see if th…

This study is testing a device called the Occlutech mVSD Occluder to close a type of hole in the heart (muscular ventricular septal defect) without open surgery. The device is inserted through a blood vessel in the leg and guided to the heart. Researchers will follow 50 patients …

This study follows 255 patients of any age (weighing over 3 kg) who receive a device called the Occlutech PDA Occluder to close a common heart defect called patent ductus arteriosus (PDA). The device is inserted through a blood vessel, avoiding open-heart surgery. Researchers wil…

This study tests a new gene therapy called LY-M001 for adults with Gaucher disease type 1, a genetic disorder that causes organ damage and other health problems. The therapy uses a harmless virus to deliver a working copy of the GBA1 gene to liver cells, aiming to restore the mis…

This Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both chi…

This phase 2 trial tests whether a drug called 2-HOBA can reduce immune system overactivity in people with Long COVID who also have POTS (a condition causing rapid heart rate upon standing). The study will enroll 50 participants and randomly assign them to receive either 2-HOBA o…

This study is testing whether giving air conditioners and a $100 electricity subsidy to older adults in Boston neighborhoods can reduce heat stress, heat strain, and related health problems. One hundred participants aged 55-95 who don't have AC will be randomly assigned to receiv…

This study looks at whether adding resistance training (like squats and pulling exercises with weights) to standard cycling workouts can improve fitness and muscle mass in women with coronary artery disease. Fifty women who have had a heart attack or heart procedure will take par…

This study tests a new oral drug called AGP100 in people with a rare inherited heart condition (CPVT) that can cause dangerously fast heartbeats during stress or exercise. Ten adults aged 18-75 will take three different doses of AGP100 over six weeks while continuing their usual …

This phase 2 trial is testing the drug ruxolitinib in people with hypereosinophilic syndrome, a rare condition where the body produces too many eosinophils (a type of white blood cell), causing organ damage. The study aims to see if ruxolitinib can normalize blood cell counts and…

This study compares two approaches for people aged 65+ with moderate aortic stenosis (a narrowed heart valve): either getting a new valve placed through a thin tube (TAVR) or just having regular check-ups. The goal is to see if early treatment prevents death or heart failure bett…

This study tests whether bempedoic acid, a cholesterol-lowering drug, can reduce artery inflammation and improve heart health in people with HIV. About 121 adults aged 40 and older with well-controlled HIV and at least one heart disease risk factor will receive either the drug or…

This early-stage trial tests whether the beta-blocker propranolol can stimulate heart muscle cell growth in infants born with Tetralogy of Fallot, a serious heart defect. Forty infants under 60 days old will receive propranolol, and researchers will measure new heart muscle cells…

This study tests a new drug called ARO-DM1 in 78 adults aged 18-65 with type 1 myotonic dystrophy, a genetic muscle disorder. The goal is to check safety and how the body processes the drug. Participants receive either ARO-DM1 or a placebo by IV or injection. It is an early-stage…

This clinical trial is testing two different surgical methods to repair a bicuspid aortic valve, a common heart defect where the valve has two flaps instead of three. The study will enroll 100 people with this condition who also have a leaky valve (aortic regurgitation). Half wil…

This study tests whether injecting a child's own heart stem cells (JRM-001) after reconstructive surgery can improve heart function in children with single ventricle heart defects. About 40 children scheduled for Glenn or Fontan surgery will receive either the stem cells or a pla…

This study tests a minimally invasive procedure to open narrowed veins above the heart in people with orthostatic hypotension or intolerance—conditions that cause dizziness, fainting, or fatigue when standing. 100 adults who haven't improved with standard treatments will receive …

This study is tracking 300 people under age 60 who faint frequently due to a condition called vasovagal syncope. Participants will receive either a nerve ablation procedure (which targets heart nerves) or a permanent pacemaker. The goal is to see which treatment better prevents f…

This expanded access program provides ATB200/AT2221 to people with Pompe disease who cannot join ongoing clinical trials or choose not to use standard therapy. The treatment combines an enzyme replacement therapy with a chaperone drug to help break down glycogen buildup. Particip…

This study compares two surgical timings for babies born with Tetralogy of Fallot, a serious heart defect. One group gets corrective surgery within 28 days of birth, the other at the usual 3-6 months. Researchers will track deaths, reoperations, and recovery to see if earlier sur…

This study tests whether a newer pacing method called left bundle branch pacing (LBBP) works better than the standard biventricular pacing for people with chronic heart failure and reduced pumping ability. About 60 adults with heart failure and a specific electrical delay in the …

This expanded access program offers a new treatment combination (ATB200 and AT2221) to children with infantile-onset Pompe disease who are not eligible for other clinical trials and are declining on standard enzyme replacement therapy. The goal is to provide access to this experi…

This study compares two procedures for treating persistent atrial fibrillation (AF): catheter ablation (which scars tiny areas in the heart to block faulty signals) and DC cardioversion (an electric shock to restore normal rhythm). Researchers want to see which one better prevent…

This study looks at whether a specific antibody in the blood can help diagnose and predict the course of a rare, life-threatening heart condition called short-coupled ventricular fibrillation (SCVF). Researchers will test 300 adults with SCVF for these antibodies and study how th…

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

This study compares a new wearable armband called HeartWatch to the standard Holter monitor for detecting heart rhythm problems like atrial fibrillation. About 300 adults who need a Holter test will wear both devices at the same time. The goal is to see if the HeartWatch can accu…

This study looks at tissue removed during back surgery to find early signs of a heart condition called ATTR cardiac amyloidosis. Researchers will test spine samples from 1,663 older adults for abnormal protein deposits. If found, participants will get further heart tests to confi…

This study is testing whether a computer program (machine learning) can help doctors diagnose severe heart attacks in patients who have a heart condition called left bundle branch block (LBBB). LBBB can hide the usual signs of a heart attack on an ECG, making it hard to tell if a…

This study aims to develop a new clinical test to diagnose Calcium Release Deficiency Syndrome (CRDS), a rare inherited heart condition that increases the risk of sudden cardiac arrest. Researchers will use a pacing procedure to measure heart wave changes in 400 participants, inc…

This study tests an artificial intelligence program that analyzes heart rhythm data from a small, wearable patch to estimate how well the heart pumps blood. Researchers will compare the AI's results to standard ultrasound in 2,000 adults. If accurate, this could offer a simpler, …

This study explores whether a quick, painless cheek swab can spot protein changes linked to inherited heart conditions that cause sudden cardiac death in young people. Researchers will collect samples from 26 patients with arrhythmic disorders or family members at risk. If the te…

This study compares two ways of performing the Valsalva maneuver during a heart ultrasound to detect a patent foramen ovale (PFO), a small hole in the heart that can cause strokes. About 488 stroke patients will be asked to do both a standard self-directed maneuver and a goal-dir…

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 tests whether artificial intelligence can help doctors interpret echocardiograms (heart ultrasounds) more accurately and quickly. Researchers at Mayo Clinic will deploy AI algorithms to flag signs of genetic cardiomyopathy, ischemic heart disease, and cardiac amyloidos…

This study is testing a special mattress that can measure heart rate, breathing, temperature, and body position without touching the patient. It is designed for people with heart disease who are in the hospital. The goal is to see if this wireless system works as well as standard…

This study tests a new battery-powered ultrasound device that is placed on the chest to detect a right-to-left shunt in the heart, such as a PFO. It is non-invasive and will be compared to the standard test (TEE) to see how accurate it is. The study involves 75 people who are alr…

This study tests a head-worn ultrasound device called SONAS that listens for bubble signals in the brain during a standard heart ultrasound. It aims to see if the device can accurately detect right-to-left shunts—abnormal connections between blood vessels—in adults with hereditar…

This study checks if a quick, non-invasive finger test (QuantaFlo HD) can detect early signs of heart dysfunction. Researchers will compare the finger test results with standard heart ultrasound measurements in 600 adults who have risk factors like high blood pressure or diabetes…

This study is testing whether a machine learning algorithm can accurately detect heart murmurs that point to structural heart disease. Researchers will record heart sounds from 125 adults using two different digital stethoscopes and compare the algorithm's findings to standard ec…

This study tests if the drug milrinone can prevent a serious heart complication called post-ligation cardiac syndrome (PLCS) in very preterm infants after surgery to close a heart vessel. About 316 babies born before 28 weeks will receive either milrinone or standard care. The go…

This study tests whether a 16-week behavioral therapy called Pivotal Response Treatment (PRT) works better when done at a center or at home for young children with autism who have language delays. Researchers will compare both groups to children receiving usual care. The goal is …

This study compares two drug combinations (ketamine with propofol vs. dexmedetomidine with propofol) for sedating children aged 2-12 during a heart catheterization to close simple heart defects. The goal is to see which approach causes fewer breathing problems and provides smooth…

This study tests whether a personalized exercise program can improve balance and physical function in adults with rare neuromuscular disorders like Charcot-Marie-Tooth disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy type 1. Participants will receive a 12-d…

This study tests a smartphone app designed to help people prepare for heart surgery through exercise, nutrition tips, and telehealth check-ins. About 40 adults awaiting surgery will either use the app or receive standard care. Researchers want to see if the app is easy to use, ac…

This study tests a 6-session program called BE-FIT that helps cardiac rehabilitation patients reduce anxiety about exercise. The program uses gradual exposure to feared sensations, prevents safety behaviors, and uses activity monitors for feedback. Researchers will enroll 146 adu…

This study tests whether diaphragmatic breathing exercises can reduce heart rate, blood pressure, and dizziness in pregnant women with Postural Orthostatic Tachycardia Syndrome (POTS). 44 pregnant women will be split into two groups: one doing breathing exercises, the other recei…

This study looks at whether eating more salt can help people with POTS, a condition that causes a fast heart rate and dizziness when standing. Researchers will compare a high-salt diet to a normal-salt diet over 3 months in 50 adults. The goal is to see if extra salt lowers heart…

This study looks at whether wearing compression garments (like tight waist-high stockings or abdominal shapewear) can help adults with POTS feel better and lower their heart rate during normal daily activities. About 30 participants will wear the garments at home and have their h…

This study looks at whether a large IV bag of saline (salt water) can improve thinking problems like brain fog in people with Long COVID or a condition called POTS. About 100 adults will receive either a full or tiny dose of saline to compare effects on reaction time and memory. …

This study tests whether live, group exercise sessions delivered via video chat can improve fitness in teens (ages 12-19) with certain types of congenital heart disease. 74 participants will either join the remote exercise program or receive standard exercise handouts. The main g…

This study tests whether a daily movement program led by a kinesiologist can reduce frailty in 60 hospitalized heart patients. Frailty makes people weaker and more likely to have longer hospital stays or be readmitted. The program encourages simple activities like standing, walki…

This study tests whether inhaling lavender essential oil for four weeks can reduce anxiety, stress, and depression in women waiting for IVF treatment. 120 women will be split into three groups: one using real lavender oil, one using a placebo scent, and one receiving no scent. Th…

This study tests whether simple physical maneuvers like leg crossing, bending, or arm tensing can prevent fainting in children aged 6 to 18. Participants who visit the emergency department after a fainting episode will either receive standard care or learn these counterpressure m…

This study tests a drug called DT402 (a form of MDMA) in 20 adults with autism spectrum disorder. The goal is to see if it can reduce the severity of social and communication problems. Participants will take the drug and report their experiences using simple rating scales. It is …

This study tests whether pentoxyfilline, a drug that improves blood flow, can thicken the uterine lining and increase pregnancy rates in women with unexplained infertility undergoing frozen embryo transfer. About 100 women with good-quality embryos will receive the drug or a plac…

This study tests whether tadalafil, a drug that improves blood flow, can thicken the uterine lining and increase pregnancy rates in women with unexplained infertility. About 100 women who have good-quality frozen embryos will take tadalafil before embryo transfer. The main goal i…

This study tests whether a supplement called MyCondro can help people with knee osteoarthritis move better and feel less joint discomfort. Researchers will give two different doses to 240 adults aged 45 and older who have had knee problems for at least six months. The main goal i…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study tests whether adding a program that targets sleep and stress (called RESST) to standard cardiac rehabilitation helps heart patients recover better. About 200 adults with heart conditions who also have poor sleep or high stress will take part. Researchers will measure s…

This phase 2 trial tests whether pyridostigmine, a drug that affects nerve signals, can reduce symptoms of postural tachycardia syndrome (POTS) like rapid heartbeat and dizziness. Fifty adults with POTS will take either pyridostigmine or a placebo for three days. The study aims t…

This study explores whether weekly music and movement sessions are practical and enjoyable for children aged 6 to 18 with myotonic dystrophy type 1 (DM1). Over 10 weeks, participants attend 45-minute music classes, undergo physical and cognitive tests, and provide biological samp…

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 is testing whether a small, battery-powered device worn on the ear can reduce gastrointestinal symptoms in children aged 10-18 with hypermobile Ehlers-Danlos syndrome (hEDS) and related autonomic nervous system problems. The device, called IB-Stim, delivers gentle elec…

This study tests a web-based app called IAMABLE that provides evidence-based rehabilitation strategies for people with chronic conditions like heart disease, arthritis, or neurological disorders. Fifty adults aged 45 to 75 will use the app for 4 months to set goals and learn abou…

This Phase 3 trial tests whether a once-daily dose of mexiletine PR can safely reduce muscle stiffness (myotonia) in people with myotonic dystrophy types 1 and 2. About 176 participants will receive either the drug or a placebo for 26 weeks. The main measure is how quickly hand m…

This study tests whether omega-3 supplements can reduce behavioral problems in children and teens with autism spectrum disorder (ASD). Over 12 weeks, 50 participants aged 6-17 will take omega-3 or a placebo. Researchers will measure changes in behavior, attention, and blood marke…

This study tests whether a 12-week home-based high intensity interval training program can improve exercise capacity in people aged 12 to 45 with a congenital heart defect that required a surgical connection between the right ventricle and pulmonary artery. Participants are rando…

This study tests whether closing a small hole in the heart (called a PFO) can reduce migraine attacks and improve brain function. Researchers will compare 150 adults with migraines and a PFO who get the closure procedure to those who don't. The goal is to see if the procedure cut…

This study tests whether a type of talk therapy called Behavioral Activation, delivered via home-based telehealth, can improve social functioning and mood in veterans recently discharged from the hospital for a heart condition. About 132 veterans with depression will receive eith…

This study tests whether a sedative called dexmedetomidine can help people in the ICU who have a life-threatening heart rhythm problem called electrical storm. About 192 adults will receive either the sedative or a placebo for 2-3 days. The goal is to see if it reduces deaths and…

This pilot study tests whether giving intravenous iron to people with POTS who have low iron stores can increase their blood volume and reduce symptoms like rapid heart rate upon standing. The study will enroll 12 adults aged 18-45 with confirmed POTS and low ferritin levels. Par…

This study tests whether a gentle brain stimulation technique called tACS, used at home for 5 days a week over 4 weeks, can improve memory and thinking in 40 young people aged 14-25 with 22q11.2 deletion syndrome. The stimulation is personalized based on each participant's MRI an…

This study tests if a new biodegradable heart implant can reduce migraine days better than a standard metal implant in people with a small hole in the heart (PFO). The new implant is designed to dissolve over time, potentially avoiding long-term complications like metal allergies…

This study compares a women-only cardiac rehabilitation program to the standard mixed-gender program for women with heart disease. Sixty women aged 40-80 will attend 36 sessions over 12 weeks, with extra women-focused education. Researchers will measure attendance, completion rat…

This phase 3 trial is testing whether metformin, a common diabetes drug, can improve muscle function in adults with myotonic dystrophy type 1 (Steinert's disease). The study will enroll 142 participants who will receive either metformin or a placebo for 6 months. Researchers will…

This study tests a program called One-Mind One-Heart that combines mindfulness and behavior change skills to help older adults with HIV reduce stress and improve heart health. The program includes text messages and covers topics like physical activity, diet, and substance use. Th…

This study follows up to 10 children from birth to under 6 years old who have genetic muscle disorders causing stiffness (myotonia) and are taking mexiletine. Researchers will collect data on side effects and how the medicine is used in routine care over the long term. The goal i…

This study tests whether a standardized, step-by-step protocol for giving blood thinner injections (low-molecular-weight heparin) can reduce bruising and pain in heart patients. About 180 patients in cardiac care units will be randomly assigned to receive injections either by the…

This registry study will enroll 200,000 high-risk cardiac patients to see how well an AI platform called Willem can detect heart problems from standard ECGs. The AI's readings will be compared to expert cardiologist diagnoses, but the AI results won't be shared with doctors, so p…

This study aims to learn more about how diseases related to blood clots, the immune system, and blood vessels start and change over time. Researchers will enroll up to 1,000 people aged 5 and older, including those with these conditions, their healthy relatives, and healthy volun…

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 aims to understand how heart problems develop in people with Duchenne and Becker muscular dystrophy, as well as in carriers. Researchers will collect cardiac MRI scans and clinical data from 1,000 participants to build a registry. Using advanced image analysis and deep…

This study creates a large database of about 12,000 people with and without heart disease. Researchers collect medical information and blood samples to analyze factors that influence heart conditions like coronary artery disease, heart failure, and stroke. The goal is to better u…

This study is looking for early signs of heart amyloidosis in Black adults who carry a specific gene change (V122I TTR) that raises their risk. Researchers will use heart MRI scans and blood tests to detect protein buildup before symptoms appear. The goal is to find ways to diagn…

This registry will follow 500 people with inappropriate sinus tachycardia (IST) or postural orthostatic tachycardia syndrome (POTS) who have had or will have a heart ablation procedure using AtriCure devices. The goal is to collect real-world data on how safe and effective the pr…

This study looks at medical records of 1,000 older heart patients in Russia to see if they were prescribed potentially harmful medications during the COVID-19 pandemic. Researchers will use a medical database to count how often these risky prescriptions happened and check for dan…

This study is looking at whether women with lower ovarian reserve (fewer eggs) have had more early miscarriages in the past. Researchers will measure ovarian reserve with a blood test (AMH) and an ultrasound (antral follicle count) in over 2,000 women seeking fertility care. This…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study aims to find how common the KIT D816V mutation is in people with suspected clonal mast cell disease. Researchers will collect blood samples from 450 participants and test them using two sensitive methods. The results may improve understanding and diagnosis of these rar…

This study is testing whether simple nutritional checks before heart surgery can predict how well patients recover. Researchers will give 250 patients questionnaires, blood and urine tests, and measure grip strength and body composition. They will then see if these measures are l…

This study tracks immune-related substances in the blood of 40 women undergoing a frozen embryo transfer. Researchers want to see how these markers change before and after the transfer, and whether they relate to pregnancy success. The goal is to better understand the role of the…

This global registry enrolls people with Pompe disease to track how the condition changes over time, whether they receive treatment or not. By collecting data from up to 2,000 participants, researchers hope to better understand the disease's progression and improve patient care. …

This study aims to better understand how Pompe disease affects the nerves and muscles involved in breathing. Researchers will analyze nerve conduction and diaphragm activity in 20 adults with Pompe disease or unexplained respiratory failure. The goal is to identify patterns that …

This study aims to uncover the genetic causes of cardiomyopathy in children by analyzing DNA from affected individuals and their families. Researchers hope to identify mutations that lead to different types of cardiomyopathy, which could improve genetic counseling and deepen unde…

This study aims to collect DNA samples and medical information from 2,000 people with heterotaxy (a condition where organs are arranged abnormally) and related heart defects, along with their family members. Researchers hope to identify the genetic causes of these conditions, whi…

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 looks at whether it is safe and possible to do a special exercise test (MRI combined with a bike workout) in 20 people who already have a specific type of pacemaker. The goal is to see how different pacemaker settings affect the heart's pumping ability during light exe…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study follows 232 people with a bicuspid aortic valve (a heart valve with two flaps instead of three) over 10 years. Researchers want to learn how the condition naturally progresses and what factors lead to serious problems like valve disease or bulging of the aorta. Partici…

This study aims to measure how well infants' hearts can make new muscle cells, especially in those with a heart condition called Tetralogy of Fallot. Researchers will use a special imaging technique on heart tissue that is normally removed and thrown away during surgery. The goal…

This study is following 700 adults with myotonic dystrophy type 1 (DM1) over two years. Researchers are measuring walking speed, lung function, and muscle tissue changes to find reliable markers of disease progression. The goal is to improve future clinical trials by better under…

This study looks at whether people with type 2 diabetes, COPD, or heart disease who join a health program in Halsnaes Municipality improve their physical function and well-being. About 194 adults will be tracked before and after the program using tests and questionnaires. The goa…

This study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

This study looks at how people with ME/CFS (chronic fatigue syndrome) and people with heart conditions feel after a bike exercise test. Researchers want to see if the type and timing of symptoms after exercise are different between the two groups. 80 adults will take part, and th…

This study aims to learn why myotonic dystrophy type 1 affects children differently than adults, and why symptoms vary even within the same family. Researchers will observe 100 children (ages 0-17) through video calls and simple at-home activities, and analyze their genes from a …

This study follows 300 people who had hospital-acquired pneumonia to see how it affects their heart and lungs over 18 months. Researchers will take blood samples, swabs, and perform heart and lung tests to understand the link between pneumonia and later cardiovascular problems li…

This study is testing a comprehensive MRI scan to see if it can better diagnose different heart conditions. Researchers will scan 2,000 adults with suspected or confirmed heart disease. The goal is to create a standard imaging method that improves early detection and risk predict…

This study tests a handheld camera that looks at tiny blood vessels in children undergoing heart surgery for certain birth defects. Standard monitors only check large vessels, but this camera may reveal hidden problems. About 40 children will participate to see if the camera help…

This study will collect electronic health records from up to 2500 people with Duchenne or Becker muscular dystrophy, including female carriers, across U.S. clinics. The data will be combined with patient-reported information to give researchers a fuller picture of the diseases. T…

This study looks at a new, less invasive way to monitor blood flow during heart ablation procedures. Doctors will use a special device to track heart function beat-by-beat. The goal is to see if this method helps improve care for 27 adult patients having heart ablation.

This study is developing an AI system that tracks tumors and organs during radiation therapy without needing physical markers. Researchers will use existing patient data to train and test the AI. If it works, it could help doctors target radiation more accurately. The study invol…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is testing whether artificial intelligence can predict if someone will develop one of five common diseases: diabetes, heart disease, breast cancer, back pain, or arthritis. Researchers will collect health data from 1,000 adults aged 30 to 60, including medical records,…

This study looks at oxygen levels in the kidneys of premature babies born before 32 weeks who have a heart condition called patent ductus arteriosus (PDA). Researchers want to see how kidney oxygen relates to the severity of the heart condition and whether it can predict kidney i…

This study looks at 174 mothers whose babies were diagnosed with serious heart defects before birth. Researchers will track the mothers' mental health from the third trimester until the baby is one year old, and then test the babies' brain development. The goal is to understand i…

This study looks at how common tooth staining is in children who had very high bilirubin levels (jaundice) early in life. Researchers will check 120 children with certain liver conditions to see if their teeth are discolored and whether that affects their daily life. The goal is …

This study uses advanced heart MRI to see how bariatric surgery and cardiac rehabilitation change the heart's structure and function. Researchers will scan 150 adults before and 6-12 months after these metabolic treatments. The goal is to understand how the heart adapts to these …

This study is building a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, and Marfan syndrome. Researchers will collect DNA samples and medical information to discover which genes are most commonly affected and how often the…

This study looks at whether raising carbon dioxide levels in the blood can lower heart rate and reduce symptoms in people with Postural Orthostatic Tachycardia Syndrome (POTS) when they stand up. Researchers will test different CO2 levels in 26 adults with POTS during a tilt-tabl…

This study is building a worldwide online registry for people with Duchenne or Becker muscular dystrophy, including female carriers. Participants share their health information to help researchers learn more about the disease and to match patients with clinical trials. The goal i…

This study will use a new type of cardiac MRI to look at the heart's microscopic structure in 1,000 people—both healthy volunteers and those with various heart conditions. The goal is to see if this advanced imaging can detect early signs of heart damage better than standard test…

This study is looking at whether people with postural tachycardia syndrome (POTS) have certain antibodies that might be causing their symptoms. Researchers will compare 125 adults with and without POTS, using small doses of two drugs to see how their bodies respond. The goal is t…

This study uses small pieces of heart tissue removed during necessary surgery in children with congenital heart disease. Researchers want to understand how calcium controls heart cell contraction and how infant heart cells differ from adult ones. They also aim to improve lab-grow…

This study creates a Canadian registry for children under 18 with Alagille syndrome or genetic intrahepatic cholestasis, rare liver conditions that cause bile buildup. Researchers will collect health data from medical records over time to understand how these diseases progress an…

This study looks at how the heart and blood vessels communicate when blood pressure drops, like when standing up quickly. Researchers will test young and older men and women using a vacuum chamber around the legs to safely mimic low blood pressure. They will also see if squeezing…

This study is looking for new genes and blood markers linked to arrhythmogenic cardiomyopathy (AVC), a genetic heart condition that can lead to heart failure and sudden cardiac arrest. Researchers will enroll 1,000 people, including patients with AVC or unexplained cardiac arrest…

This study is building a huge database of up to 800,000 Korean patients with heart or brain vascular disease. By tracking their health over many years, researchers hope to understand the unique patterns and risk factors in this population. The goal is to create a platform that ca…

This study aims to find genes that make some people with congenital heart defects develop a serious lung condition called pulmonary arterial hypertension (PAH). Researchers will analyze DNA from blood samples of 21 patients with heart defects who also have PAH. The goal is to ide…

This study aims to find early signs of Parkinson's disease in people who carry a change in the GBA1 gene, which puts them at higher risk. Researchers will use simple, non-invasive tests to check for subtle changes in movement, thinking, sleep, and other functions that can appear …

This study creates a registry to collect real-world information on the safety and effectiveness of ambroxol, a common cough medicine, when used at higher doses for Gaucher disease or GBA-related Parkinson disease. Researchers aim to gather data from 300 patients worldwide who are…

This study is creating a large biobank of blood, DNA, plasma, and tissue samples from 15,000 people with and without heart and aortic diseases. Researchers will use this information to better understand conditions like aortic aneurysm, heart failure, and bicuspid aortic valve. Th…

This study aims to develop better MRI methods for imaging the heart and brain, and to describe heart diseases using these new techniques. It will also investigate whether gadolinium, a common MRI contrast agent, stays in the body long after use. Up to 5,000 healthy volunteers and…

This study looks at whether brain wave tests (EEG) done before and after heart surgery in babies under 1 year old can predict later learning or behavior problems, such as autism or ADHD. About 50 infants will be followed to age 2. The goal is to find early warning signs so that c…

This study looks at how a traumatic brain injury (TBI) can lead to heart problems like irregular heartbeat or heart failure. Researchers will use MRI scans to see if damage to certain brain areas disrupts the network that controls the heart. By studying 90 people with mild to mod…

This study looks at how the brains of young people with Postural Tachycardia Syndrome (POTS) process what they see. Researchers will use brain scans to compare brain activity in teens with POTS and healthy teens. The goal is to learn more about how different parts of the brain co…

This study tests whether a machine-learning model can predict serious heart events in children admitted to the hospital. The model alerts doctors when a child may need a palliative care consultation. Researchers will compare outcomes before and after the model is used, involving …

This study looks at whether simple leg movements, like crossing legs or tensing buttock muscles, can raise blood pressure in children aged 6-18 who faint often. Researchers will measure heart and blood flow responses during these movements in 30 children. The goal is to understan…

This study tests a new, lightweight ultrasound device called NeoDoppler that can be gently placed on a newborn's soft spot (fontanelle) to continuously measure blood flow in the brain. Researchers will enroll 180 preterm and full-term infants, including those with conditions like…

This study will use advanced heart MRI scans on up to 100,000 people with known or suspected heart disease. The goal is to learn how these scans can help doctors better understand, diagnose, and treat different heart conditions. Researchers will track participants' health over ti…

This study follows 500 extremely preterm infants who received paracetamol or placebo in the TREOCAPA trial. Researchers will use a parent questionnaire to assess cognitive development at age 2. The goal is to see if early paracetamol use improves thinking and learning skills in t…

This study follows pregnant women with Pompe disease to see how the condition and its treatments affect pregnancy and infant growth. Researchers will track complications and monitor babies for up to three years after birth. No new drugs are being tested; participants receive thei…

This study tests whether artificial intelligence (AI) can help cardiologists read echocardiograms (heart ultrasounds) more quickly and consistently. Researchers will give AI analysis to doctors in real time as they review heart images from 50 participants with valve disease. The …

This registry will follow 2,500 people who receive Abbott heart devices, such as implants for holes in the heart or replacement heart valves. The goal is to check how safe and effective these devices are when used in everyday hospital practice. Data will be collected from standar…

This study aims to create an artificial intelligence (AI) model that can predict complications in children who have a common heart defect called a ventricular septal defect (VSD) repaired with a catheter-based procedure. Researchers will analyze data from over 5,000 children's me…

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…

This study looks at whether people who have a blood clot in the lungs (pulmonary embolism) are more likely to have a stroke if they also have a small hole in their heart (called a PFO). About 1 in 4 people have this hole, which can let a clot travel to the brain. Researchers will…

This study follows up to 400 children with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to understand which children develop antibodies that block treatment. The goal is to improve…

This study creates a large collection of blood, tissue, and medical information from up to 5,000 people with or at risk for pediatric heart disease. Researchers will use these samples to better understand the disease and find new ways to diagnose or treat it in the future. Partic…

This study measures how hard children with conditions like neuromuscular disease, scoliosis, or heart problems work to breathe. Researchers use a thin tube placed through the nose into the esophagus to measure breathing muscle strength and effort. The goal is to better understand…

This registry is collecting information from 8,000 people undergoing heart or chest surgery. The goal is to see how factors before and during surgery relate to serious complications like death, shock, or infection. By analyzing this data, researchers hope to find ways to improve …

This study aims to understand why myotonic dystrophy type 1 affects people so differently. Researchers will remotely assess muscle strength, memory, and activity in 1,000 participants, and analyze their DNA from a blood sample. All activities are done from home using a mailed too…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study is testing whether giving probiotics after heart surgery can improve recovery by changing the bacteria in the gut. Researchers will measure certain chemicals in the blood that come from gut bacteria. The trial involves 30 adults scheduled for heart surgery, who will re…

This study looks at how the brain, nerves, and blood vessels interact in 80 adults having heart surgery. Researchers will measure brain activity, blood flow, and heart reflexes to better understand the link between heart disease and depression. The goal is to develop new tools fo…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study aims to improve how doctors predict the risk of sudden cardiac death or heart failure in people with inherited heart diseases. Researchers will use artificial intelligence to analyze data from 1,000 participants, including medical history, ECGs, imaging, genetic tests,…

This study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…

This study is collecting cervical mucus from 476 women undergoing IVF or frozen embryo transfer. Researchers will analyze the proteins in the mucus to find markers that indicate when the uterus is most receptive to an embryo. By comparing samples from women who become pregnant wi…

This study is looking at new blood markers that measure inflammation and oxidative stress in people with Gaucher disease type 1. Researchers want to see if these markers can give more information than the tests currently used. The study involves 34 adults who are stable on their …

This study aims to create a collection of blood and urine samples from 100 people with Noonan syndrome. Researchers will use these samples to study how the disease works and look for factors that predict how it will progress. The study does not test any treatment, but may help gu…

This study collects blood samples from 1500 adults at risk for heart disease to discover new biomarkers that can predict future heart attacks, strokes, or blocked leg arteries. Participants are seen at a specialized prevention center and provide samples and health data at the sta…

This study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, gender, or genetic type. The goal is to improve long-term care by identifying who might be at hig…

This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is…

This study tests whether a single PET tracer (FDG) can measure both blood flow and sugar use in the heart, instead of needing two separate tracers. Researchers will compare results from FDG with a dedicated flow tracer in 60 healthy adults and people with heart disease. The goal …

This study aims to learn how Pompe disease affects the brain and nerves over the long term. Researchers will use brain scans, thinking and language tests, and muscle checks in 45 people with Pompe disease. Participants will be followed for 3 to 6 years. No new treatment is being …

This study is testing a new, non-invasive monitor (fetal magnetocardiography) to detect hidden heart problems in high-risk pregnancies that might lead to fetal death. Researchers will study 30 pregnant women with conditions like congenital heart disease or twin pregnancy. The goa…

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

This study aims to find the genetic causes of bicuspid aortic valve (BAV), a common heart defect where the valve has two flaps instead of three. Researchers will collect blood samples from 700 people with BAV and their family members to compare DNA. The goal is to identify gene c…

This study tests whether a balloon device, called REBOA, can be safely used by emergency teams outside a hospital to improve blood flow in people whose heart has stopped (cardiac arrest). The balloon is inserted into the main artery and inflated to redirect blood to the heart and…

This study tests a program called Heart-to-Heart, where community health workers help low-income patients make informed choices about cardiac rehab after a heart event. About 50 adults from Johns Hopkins Hospital will take part. The goal is to see if the program is practical and …

This study aims to describe how a genetic heart condition called PKP2-ACM naturally progresses over time in people who receive standard care. Researchers will monitor heart rhythm, biomarkers, and quality of life in 36 participants aged 12 and older. The goal is to better underst…

This study is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…

This study is monitoring 50 children in Japan with Alagille syndrome (ALGS) or progressive familial intrahepatic cholestasis (PFIC) who are taking the drug Livmarli (maralixibat). Researchers are using a national registry to track how many children develop liver problems and how …

This study will enroll 5,000 adults with chronic heart conditions like heart failure, high blood pressure, or aortic stenosis. Participants will wear a Prolaio digital health patch that monitors heart rate, breathing, and other vital signs. The goal is to observe how these condit…

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 international registry is tracking 400 adults with congenital heart disease who are taking SGLT2 inhibitors, a type of diabetes medication that also benefits the heart. Researchers want to see how these drugs are being prescribed, how well they are tolerated, and whether the…

This study is testing a new paddle-shaped catheter designed to map the heart's electrical signals in people with various heart rhythm disorders like atrial fibrillation and ventricular tachycardia. The device has many sensors to create a detailed map of the heart's chambers. The …

This study tests whether a wrist-worn device can help monitor pregnant women with congenital heart disease. Researchers will track heart rhythms and other data from 50 participants to see if the wearable can detect early signs of trouble. The goal is to improve care and reduce th…

This study is investigating why some people with migraine with aura also have a small hole in the heart called a PFO. Researchers will compare genetic differences and blood flow patterns between 240 adults who have migraine with aura, some with a PFO and some without. No new trea…

This study compares children with autism spectrum disorder (ASD) to typically developing children, aged 3 to 5 years. Researchers measure a substance called N-CAD in the blood and use a non-invasive brain imaging technique (fNIRS) to look at brain activity during rest and social …

This study will follow 60 adults with a bicuspid aortic valve (a heart valve with two flaps instead of three) for five years. Each year, participants will get a special 4D CT scan to take detailed measurements of the valve's shape and movement. The goal is to learn more about how…

This study aims to understand why people with tetralogy of Fallot and other congenital heart diseases experience shortness of breath, palpitations, and changes in heart structure. Researchers will use remote heart rhythm monitors and imaging to track 300 participants over two yea…

This study looks at how myotonic dystrophy types 1 and 2 affect the brain. About 100 adults aged 30-65 will have MRI scans, thinking and movement tests, and blood draws. Some will also have a spinal tap. The goal is to find brain changes that could be used as markers in future tr…

This study collects small heart tissue samples from 400 adults undergoing heart procedures. Researchers will analyze these samples to find new markers that could help diagnose heart diseases earlier and better understand how the heart works in health and disease. The goal is to i…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study aims to create a national registry for people with Myotonic Dystrophy Type 1 (DM1) in Spain. Researchers will collect clinical data, genetic information, and patient reports from up to 3,000 participants. The goal is to better understand the disease and identify people…

This study looks at whether certain medications known to affect the heart's electrical activity (QT-prolonging drugs) actually cause major heart problems in hospitalized adults. Researchers will analyze data from over 990,000 patients across Ontario hospitals, comparing those who…

This study is looking at whether small differences in certain genes make very low birth-weight babies more likely to develop chronic lung disease and other complications of prematurity. Researchers will compare the genes of 1,100 infants who develop these conditions with those wh…

This study is looking for 75 adults with myotonic dystrophy (a muscle disease) and healthy volunteers to test new muscle imaging techniques. The goal is to find better ways to measure muscle changes over time, which could help future treatment studies. Participants will undergo M…

This study explores a gentler way to screen embryos for genetic problems during IVF. Instead of taking a cell from the embryo (biopsy), researchers will analyze the fluid the embryo grows in. They want to see if this non-invasive method can predict which embryos are most likely t…

This study looks at why some people develop a fast heart rate and dizziness months after COVID-19, a condition called post-COVID tachycardia syndrome. Researchers will measure immune markers and nerve activity in 60 participants to see if ongoing inflammation and reduced vagal ne…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This research study collects health information from 10,000 people with brain inflammation conditions like Long COVID, ME/CFS, and autoimmune diseases. Participants use a smartphone app to share symptoms, health history, and wearable data. The goal is to find disease subtypes and…

This study uses a special eye scan called OCTA to measure the density of tiny blood vessels in the retina. Researchers will compare results from 64 people—half with cardiovascular disease and half healthy—to see if the scan can reliably detect vessel changes linked to heart probl…

This study is testing whether adding genetic and imaging information to standard risk assessments can better predict heart disease in 30,000 healthy Italian adults aged 40-80. Participants will have their risk calculated using traditional methods and then again with the added dat…

This study gathers safety information from about 100 women with Pompe disease who received Nexviazyme while pregnant or breastfeeding, and from their babies. Researchers will track pregnancy complications, birth outcomes, and infant growth and development through the first year o…

This study is testing a virtual patient navigation program for 260 English, Chinese, or Spanish speakers with breast cancer or heart disease. The goal is to see if a phone-based portal can help underserved people get the support they need, even though it won't fully replace in-pe…

This study looks at whether levels of a substance called PGE2 in the blood can predict which premature babies (born at 32 weeks or earlier) will develop a serious heart condition called patent ductus arteriosus (PDA). Researchers will measure PGE2 levels and use heart ultrasounds…

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 follows over 10,000 Moroccan adults for 10 years after a heart screening. Researchers will track heart attacks, strokes, and heart-related deaths to build a risk score tailored to the Moroccan population. The goal is to better predict and prevent heart disease in Moroc…

This study is building a biobank of blood and tissue samples from 500 patients undergoing cardiac surgery. Researchers will analyze these samples to better understand the causes and progression of heart disease. The goal is to improve future diagnosis and treatment, but no new th…

This study uses 3D mapping to explore the electrical and structural features of a specific area in the heart called the left bundle branch area. The goal is to improve how pacemaker leads are placed in that region. Researchers will review data from 30 patients, ages 18 to 88, who…

This study looks at why some people develop POTS (a condition causing rapid heartbeat and dizziness) after COVID-19. Researchers think a part of the nervous system that normally fights inflammation may not work well in these patients. They will compare 150 adults with and without…

This study looks at why eating carbohydrates makes symptoms worse for people with Postural Tachycardia Syndrome (POTS), a condition that causes dizziness and rapid heartbeat upon standing. Researchers will measure blood flow changes in the abdomen after a sugary drink in 50 parti…

This study tracks 150 adults in cardiac rehab to see if men and women differ in how much they move during and up to 6 months after the program. Participants wear activity trackers and complete fitness tests at three visits over 10 months. The goal is to understand barriers to sta…

This study is testing a new non-invasive device that uses laser speckle to measure blood flow and structure inside the eye. Researchers will compare these images with standard vision tests in 500 people with various retinal conditions. The goal is to see if this technology can be…

This study aims to find less invasive ways to measure muscle disease activity in people with muscular dystrophies. Instead of painful muscle biopsies, researchers will use blood and urine samples along with painless ultrasound and electrical tests on the arms and legs. The goal i…

This study looks at the spinal fluid and brain activity of people with myotonic dystrophy type 1, a condition that affects muscles and thinking. Researchers want to find early signs of disease in the fluid that surrounds the brain. About 88 adults will take part, including some w…

This study aims to find less invasive ways to measure disease activity in myotonic dystrophy by looking for RNA markers in blood and urine instead of taking muscle biopsies. Researchers will compare samples from 215 people with and without the condition to see if these markers ca…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This study aims to understand how Long QT Syndrome types 2 and 3 affect the quality of life and daily burden of adults. Researchers will ask up to 200 participants to fill out questionnaires about their physical, emotional, and social well-being. No treatment is given; the goal i…

This study looks at people who carry genetic changes linked to Leber Hereditary Optic Neuropathy (LHON) but still have normal vision. Researchers want to see if certain chemicals in the blood and tears can signal early nerve damage in the eye, before vision loss occurs. The goal …

This study aims to see if voice recordings from a smartphone can help detect heart disease. Researchers will collect voice samples and health data from up to 1 million adults using the Mayo Clinic app. No treatment is given; the goal is to gather information for future AI tools.

This study collects medical records, circumstances, and DNA from children who died suddenly and unexpectedly between ages 11 months and 18 years. Researchers will analyze this information to find risk factors and causes, with the goal of preventing future deaths. Families of affe…

This registry aims to connect people diagnosed with myotonic dystrophy (DM) or facioscapulohumeral muscular dystrophy (FSHD) with researchers. By joining, participants help scientists better understand these inherited muscle-weakening diseases and develop future treatments. The r…

This study creates a registry for 500 people with congenital heart disease (CHD) and their caregivers. Participants share their medical history to help researchers understand the disease better and design future clinical trials. Unlike a typical registry, members will actively gu…

This study is a registry that collects information from 1,000 adults who have conditions like fainting, rapid heartbeat, or low blood pressure and have received a procedure that adjusts nerve signals to the heart. Researchers will track whether symptoms return within a year. The …

This study looks at how the brain works in 120 adolescents with POTS, a condition causing rapid heart rate and dizziness when standing. Researchers will use brain scans and questionnaires to see if a problem in the brain's threat-detection system explains symptoms. The goal is to…

This study is collecting information from 280 people who need a heart rhythm procedure using BIOTRONIK catheters, external devices, or sheaths. The goal is to track how well the devices work and any problems that may happen during or shortly after the procedure. It is a routine s…

This study tests an online clinic (eCG Family Clinic) that helps families with inherited heart conditions get genetic counseling and DNA testing from home. Researchers will see if more family members use the service and how satisfied they are compared to standard care. About 170 …

This study is testing whether a smartwatch, combined with artificial intelligence and remote doctor check-ins, can help detect heart issues like atrial fibrillation and unstable angina earlier than usual. Researchers at the University of Sao Paulo will enroll 520 adults with hear…

This study is observing 900 adults in Greece who have both chronic obstructive pulmonary disease (COPD) and at least one heart condition. Researchers will track their health for two years, recording lung flare-ups, heart complications, hospital visits, and quality of life. The go…

This study tests whether a simpler, single-step thawing method for frozen embryos works as well as or better than the standard multi-step method. About 816 women undergoing IVF will have their embryos thawed using one of the two methods. The main goal is to see if the simpler met…

This study collects blood and tissue samples from 2,000 people with or without heart rhythm problems. Researchers will analyze the samples to find genetic differences linked to arrhythmias. The goal is to better understand the causes of these conditions, not to test a new treatme…