Cardiogenetic disease

This study tests the long-term safety and effectiveness of an experimental drug called VX-670 in adults with myotonic dystrophy type 1 (DM1). Participants who completed a previous VX-670 study can join. The drug is given through a vein, and researchers will monitor side effects a…

This study follows 16 infants aged 6 months or younger with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. All receive alglucosidase alfa (Myozyme) as part of their routine care. Researchers track how many survive without needing a brea…

This study tests whether injecting a woman's own platelet-rich plasma (PRP) into the ovary can help restore function in women with premature ovarian insufficiency (early menopause). 35 women under 40 will receive PRP in one ovary and a saline placebo in the other. The main goal i…

This study tests whether switching to avalglucosidase alfa is safe and more effective for people with late-onset Pompe disease whose condition has worsened on the standard treatment, alglucosidase alfa. Participants receive biweekly infusions of the new drug and are monitored for…

This study tests if a new growth hormone medicine (somapacitan) given once a week works as well as the standard daily growth hormone (Norditropin) for children who are very short due to being born small, or having Turner syndrome, Noonan syndrome, or unknown causes. About 412 chi…

This phase 2 trial tests an oral drug called venglustat, given alongside the standard enzyme therapy Cerezyme, in adults with Gaucher disease type 3 (a rare genetic disorder affecting the body and brain). The study has four parts: first, it checks spinal fluid biomarkers to disti…

This early-stage study tests a gene therapy called AT845 for adults with late-onset Pompe disease, a condition that weakens muscles. The treatment aims to deliver a working copy of the GAA gene to muscle cells. Eleven participants who have been on standard enzyme replacement ther…

This study looks at how well the Harmony Transcatheter Pulmonary Valve (TPV) works when used by doctors in everyday practice. It involves 174 people with congenital heart disease who need a new pulmonary valve. The main goal is to see if the valve works properly without needing a…

This study tests whether intravenous immunoglobulin (IVIG) can reduce symptoms of autonomic dysfunction—such as dizziness, rapid heartbeat, and fatigue—in people with long COVID. Two hundred participants will receive either IVIG or a placebo (saline) for 9 months, plus coordinate…

This Phase 3 study tests a weekly injection called retatrutide in about 1,946 people with severe obesity (BMI ≥35) and established heart disease. The goal is to see if it helps with weight loss and improves heart-related health measures over 113 weeks compared to a placebo. Parti…

This study tests a new device called the Occlutech Flex II PFO Occluder, which is used to close a small hole in the heart (PFO) that can cause strokes. The trial involves 450 people who have had a stroke with no clear cause and a PFO. Researchers want to see if the new device wor…

This study tests whether a weekly injection of CagriSema (a combination of two drugs) can reduce the risk of heart attacks, strokes, and other heart-related events in people with established cardiovascular disease. About 7,100 participants will receive either CagriSema or a place…

This study tests a small device called the BLOOM Micro-Occluder to close a common heart hole (PDA) in premature babies. About 55 babies weighing between 600 and 2500 grams will be enrolled. The goal is to see if the device is safe and works well over 6 months.

This study tests a new drug called DAY101 (tovorafenib) against standard chemotherapy for children and young adults with a type of brain tumor called low-grade glioma that has a specific gene change (RAF alteration). The goal is to see if the new drug works better at shrinking tu…

This study tests whether a special heart pacing technique (left bundle branch pacing) combined with standard heart failure drugs can improve heart function better than drugs alone. It includes 50 adults with non-ischemic heart failure and a specific heart block. The main goal is …

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

This study looks at whether actively treating a heart condition called patent ductus arteriosus (PDA) in premature babies is better than simply monitoring it. About 482 infants born between 22 and 28 weeks of pregnancy will be followed to see which approach reduces the risk of de…

This study tests a technique called acute normovolemic hemodilution (ANH) in 2000 high-risk heart surgery patients. Before the heart-lung machine is used, doctors remove some blood and replace it with fluids. The goal is to see if this reduces the number of patients who need a bl…

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

This phase 3 trial tests whether a monthly injection of pelacarsen can reduce major heart problems like heart attacks and strokes in people with high levels of Lp(a), a genetic risk factor. Over 8,000 participants with existing heart disease are being followed for several years. …

This study is testing whether a special pacemaker (cardiac resynchronization therapy, or CRT) can improve heart function and symptoms in people with mild heart failure and a specific type of heart block called left bundle-branch block. About 21 participants will receive a CRT dev…

This study looks at a procedure done before birth to help babies with a severe heart defect called hypoplastic left heart syndrome (HLHS). The goal is to improve blood flow through the heart so that the baby may have a better chance at a two-sided heart repair after birth. The st…

This phase 3 study is testing the long-term safety and effectiveness of an experimental drug called AOC 1001 (del-desiran) for people with myotonic dystrophy type 1 (DM1), a genetic muscle disorder. The trial enrolls 230 adults who have completed a prior AOC 1001 study and will r…

This study tests a new device called the PULSTA valve, which is placed inside the heart through a tube in a blood vessel, avoiding open-heart surgery. It is for 58 people with a leaky or narrowed pulmonary valve, often due to a birth defect. The goal is to see if the valve is saf…

This study tests a new enzyme replacement therapy called avalglucosidase alfa in babies with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and breathing problems. The treatment is given through an IV every other week for up to 4 years. …

This large study is testing whether a lower blood pressure target can reduce major heart problems like heart attacks, strokes, and heart failure in people with type 2 diabetes. About 9,500 participants with high blood pressure and high cardiovascular risk are being randomly assig…

This early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…

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

This trial tests whether a procedure called catheter ablation works better than anti-arrhythmic drugs for people with structural heart disease who have had a dangerous fast heart rhythm (ventricular tachycardia). About 162 participants will be randomly assigned to either ablation…

This study looks at a device called the AMPLATZER PFO Occluder, which is implanted to close a hole in the heart (PFO) in people who have had a stroke. Over 1,200 participants are being followed for up to 5 years to see if the device prevents another stroke and is safe. The goal i…

This study tests a single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the…

This expanded access program gave a single patient with Leber Hereditary Optic Neuropathy (a genetic cause of vision loss) an experimental gene therapy called GS010. The treatment was injected into both eyes to test safety. Only one person was involved, so the results are very li…

This study is for people with a rare heart condition called ATTR amyloidosis with cardiomyopathy, where abnormal protein builds up in the heart. It tests the long-term safety and effectiveness of a drug called vutrisiran, given as an injection every three months. About 700 adults…

This early-phase trial tests a single-dose gene therapy called SRP-9003 in 6 people with limb girdle muscular dystrophy type 2E/R4, a rare genetic muscle-weakening disease. The main goals are to check safety and see if the therapy can produce the missing beta-sarcoglycan protein …

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This phase 3 trial tests a gene therapy called NR082 for Leber's hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. About 95 people aged 12 to 75 with a specific ND4 mutation will receive a single injection of the therapy or a sham procedure. T…

This study is testing a new device called the GORE PV1 to replace the pulmonary valve and rebuild the right ventricular outflow tract in people with congenital heart defects. The device is designed to improve blood flow from the heart to the lungs. The study includes 15 participa…

This early-phase trial tests a single intravenous dose of LY-M001 gene therapy in 9 children (ages 6 to 17) with type 1 Gaucher disease. The goal is to see if it is safe and can improve key symptoms like liver size and blood markers. Researchers will monitor participants for side…

This phase 2 trial tests a new enzyme replacement therapy called avalglucosidase alfa (Nexviazyme) in 22 children with infantile-onset Pompe disease who are not responding well to standard treatment. The study aims to see if the new drug is safe and can improve outcomes. Particip…

This early-stage trial tests a single intravenous dose of a gene therapy (ATA-200) in 4 children aged 6-12 with limb-girdle muscular dystrophy type 2C/R5 (LGMD2C), a rare genetic muscle-weakening condition. The goal is to see if the treatment is safe and tolerable by delivering a…

This phase 3 trial tests an experimental drug called AOC 1001 in 159 adults with myotonic dystrophy type 1, a genetic condition that causes muscle weakness and stiffness. Participants receive either the drug or a placebo by intravenous infusion. The main goal is to see if the dru…

This study follows 50 people who have a hole in the wall between their heart's lower chambers (a perimembranous VSD). They received a special device to close the hole without open-heart surgery. Researchers are checking if the device stays in place and closes the hole properly, a…

This study tests a drug called vutrisiran in 655 adults with a rare heart condition caused by abnormal protein buildup (ATTR amyloidosis with cardiomyopathy). The drug is given as a shot every 3 months and aims to reduce deaths and heart-related hospital stays. The goal is to see…

This study tests whether giving patients capsules containing gut bacteria (called Probacine) before and after heart surgery can reduce gut injury and organ failure. Researchers will enroll 500 adults undergoing cardiovascular surgery. The goal is to see if changing the gut microb…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

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

This study tests whether giving the steroid hydrocortisone early, right when shock is diagnosed, helps very small preterm babies (under 1500 grams) recover faster. Researchers will compare babies who get standard shock treatment plus hydrocortisone to those who get standard treat…

This study is checking how well a device called the GORE® CARDIOFORM Septal Occluder works and how safe it is for people who have had a stroke caused by a hole in the heart (PFO). Researchers will follow 300 patients in Japan for 12 months after the device is implanted. The goal …

This study tests a new growth hormone medicine called somapacitan, given once a week, in 47 children who are very short due to being born small for gestational age, or having Turner syndrome, Noonan syndrome, or idiopathic short stature. The main goal is to see if it is safe and …

This study follows 10 people who already received LX2020 gene therapy for arrhythmogenic cardiomyopathy caused by a PKP2 gene mutation. Researchers will monitor them for years to see if the treatment remains safe and continues to help control the disease. The goal is to understan…

This early-stage trial tests a gene therapy called LX2020 for people with a heart condition called arrhythmogenic cardiomyopathy, caused by a change in the PKP2 gene. The study involves 10 adults who already have a defibrillator implanted. The main goal is to see if the treatment…

This study follows 75 people with Gaucher disease type 1 who previously received FLT201 gene therapy. Researchers will monitor them for 5 years to see if the treatment remains safe and if its effects last. The goal is to understand whether a single dose can provide long-term dise…

This study looks at a new device to fix leaky pulmonary valves in people born with heart defects. About 150 people will get the Edwards SAPIEN 3 valve placed inside a special stent. The goal is to see if the valve works well and stays in place without major problems.

This study follows 17 people with Pompe disease who have already taken part in earlier trials of avalglucosidase alfa (Nexviadyme). It aims to check the drug's long-term safety and effectiveness by giving it every two weeks as an IV infusion. The study will continue until the dru…

This study tests a new treatment called cipaglucosidase alfa/miglustat in children (0 to under 18 years) with late-onset Pompe disease. The goal is to see if it is safe and how well it works. Participants either have never had enzyme therapy before or have been on it for at least…

This study monitors 70 infants who receive the Amplatzer Piccolo Occluder to close a hole in the heart called patent ductus arteriosus (PDA). The device is placed through a blood vessel, avoiding open-heart surgery. Researchers track complications and how well the hole closes ove…

This study tests a new device (Alterra Prestent) used with a replacement heart valve (SAPIEN 3) to fix a leaky pulmonary valve in people born with heart defects. About 86 participants with moderate or severe leakage will get the device through a tube in a blood vessel, avoiding o…

This study is testing a new type of heart valve called the Harmony TPV, which is placed using a thin tube (catheter) instead of open-heart surgery. It is for people with congenital heart disease who have a leaky pulmonary valve. The study will check if the valve works well and is…

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

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

This study tests a new, non-invasive ultrasound method called electromechanical wave imaging (EWI) to see if it can more accurately locate and diagnose heart rhythm problems compared to standard tests. About 322 adults already scheduled for a heart procedure will get an EWI scan …

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

This study explores whether a simple, non-invasive leg movement test can measure blood vessel health in older adults. Researchers will use ultrasound to track blood flow changes after a passive leg movement, comparing young healthy people and older patients undergoing heart tests…

This study aims to validate a blood test that measures NET mRNA levels as a simpler way to assess norepinephrine transporter function in people with Postural Tachycardia Syndrome (POTS). Researchers will compare these levels with traditional measures in 200 participants, includin…

This study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …

This large study tested whether taking daily vitamin D3 and omega-3 (fish oil) supplements can lower the risk of developing cancer, heart disease, or stroke. Over 25,000 healthy older adults (men 50+, women 55+) took the supplements or placebos for about 5 years. The goal is to s…

This study looks at the long-term safety and effectiveness of odevixibat in 70 people with Alagille syndrome, a rare genetic condition that affects the liver and other organs. The drug aims to reduce severe itching and improve bile flow. Participants who completed a prior 24-week…

This study tests a single dose of an experimental drug called REGN7544 in 82 people with Postural Orthostatic Tachycardia Syndrome (POTS). The goal is to see if the drug safely reduces the rapid heart rate that happens when standing up. Researchers will also check for side effect…

This study tests whether a probiotic supplement called Neuralli® MP can help adults aged 18 to 50 who have autistic traits. Participants take two capsules daily and set their own personal goals to track progress. The trial is small and open-label, meaning everyone knows they are …

This study tests a nurse-led education program designed to help women in cardiac rehab address sexual concerns after a heart event. Sixty-six women will be randomly assigned to either the program or usual care. The goal is to see if the program improves sexual function, mood, and…

This study aimed to see if freezing certain nerves during minimally invasive heart surgery could lower pain afterward. It planned to enroll adults having mitral valve or atrial septal defect repair. However, the trial was withdrawn before any participants were enrolled, so no dat…

This study tests whether adding blood flow restriction (BFR) to standard resistance training helps heart rehab patients get stronger and healthier. Twenty adults with stable heart disease will do exercises with and without a special cuff that limits blood flow to the arms and leg…

This study tests whether a mild electrical current applied to the skin of the ear can help people with Postural Orthostatic Tachycardia Syndrome (POTS). POTS causes a rapid heart rate and symptoms like light-headedness and fatigue when standing. The treatment aims to stimulate th…

This study tests whether moxonidine, a blood pressure medication that lowers sympathetic nerve activity, can reduce symptoms like rapid heartbeat and lightheadedness in people with Postural Tachycardia Syndrome (POTS). About 48 participants will take either moxonidine or a placeb…

This study tests whether a nerve block given before heart surgery can reduce pain and the need for opioid painkillers afterward. About 150 adults having heart surgery will receive either a long-acting or standard form of the numbing drug bupivacaine via ultrasound-guided injectio…

This study tests whether a web-based decision aid app can reduce stress and improve decision-making for parents whose baby is diagnosed with a life-threatening congenital heart defect. 135 parents are randomly assigned to use the app alone or with an added values clarification ex…

This study tests whether a type of brain stimulation called rTMS can reduce depression in people with autism. Twenty-four participants aged 13 to 26 will receive either real or sham (fake) stimulation to see if it helps. The goal is to find a new way to treat depression that hasn…

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

This study is testing the long-term safety and effectiveness of a drug called mexiletine PR for people with myotonic dystrophy types 1 and 2. The drug is taken once daily as a liquid to help reduce muscle stiffness (myotonia). The study includes 176 adults and teens who have alre…

This study tests a short program that helps heart patients and their families explore what gives life meaning during cardiac rehab. About 80 people in Denmark will try one of three formats: one-on-one, with a relative, or in a group. The goal is to see if this approach can reduce…

This study tests a gamified app called MITA designed to improve language and thinking skills in children with autism aged 2 to 5. Sixty children will be randomly assigned to either use the app alongside their usual therapy or continue with standard care alone. The goal is to see …

This study tests whether breathing through a special resistance device can help people with Postural Orthostatic Tachycardia Syndrome (POTS) stand up longer and reduce the rapid heart rate that happens when they stand. Researchers will measure heart rate changes and symptom relie…

This study tests whether a simple IV infusion of saline (salt water) given a few hours before exercise can improve how long and how hard people with postural tachycardia syndrome (POTS) can exercise. Forty adults with POTS will exercise after receiving either saline or a placebo …

This study tests several medications to see if they can control the rapid heart rate and symptoms that occur when people with chronic orthostatic intolerance stand up. Researchers will give single doses of drugs like acetazolamide, atomoxetine, clonidine, entacapone, and proprano…

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

This study explores whether artificial intelligence can predict which children with a type of heart hole (perimembranous ventricular septal defect) will later develop complications like valve problems or blockages. Researchers will analyze past echocardiogram reports and medical …

This study was designed to compare electrical and mechanical activation of the right ventricle in adults who had surgery for Tetralogy of Fallot, a congenital heart condition. Researchers planned to use 3D mapping and imaging to see if electrical signals match the heart's physica…

This study tracks 120 adults with heart disease and at least two other long-term illnesses to see how often dangerous drug interactions happen. Researchers check medications, including over-the-counter and herbal products, and follow participants for a year. The goal is to unders…

This study follows about 35 people with dilated cardiomyopathy caused by a BAG3 gene mutation, a condition that weakens the heart muscle. Over three years, researchers will monitor heart function, symptoms, and quality of life using tests like imaging and blood work. The goal is …

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

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This study compares three ways of delivering genetic counseling to adults with inherited heart conditions. Some participants get counseling before testing, others get it after, with or without a required phone call. The goal is to see which approach is most efficient and empoweri…

This study follows 1000 Chinese patients with myotonic dystrophy type 1 (DM1) to understand how the disease affects multiple body systems and leads to disability. Researchers will collect health data and blood samples every 3 to 6 months for several years. The goal is to identify…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study looks at whether diabetes or blood sugar problems can worsen thinking and memory issues in people with myotonic dystrophy type 1. Researchers will use MRI brain scans and thinking tests over 4 years to track changes. The goal is to understand why some patients have mor…

This study tracks over 1,700 heart patients who had hip or knee replacement surgery. Researchers want to see how often bleeding or blood clots happen in the months after surgery. The goal is to find better ways to prevent these complications.

This study looks at 224 adults who had surgery as children for a heart defect called tetralogy of Fallot. Researchers are using MRI scans and blood tests to measure scarring in the heart muscle. They want to see if this scarring is linked to serious heart problems like arrhythmia…

This study will observe 200,000 Chinese adults with heart disease to see how their heart and lung function changes over 5 years. Participants will take a special exercise test to measure their fitness. Researchers hope to find better ways to predict future heart problems like hea…

This study is a large registry that collects medical data and tissue samples from 30,000 people with heart disease and healthy volunteers. Researchers will analyze this information to better understand risk factors, treatments, and outcomes for various heart conditions. The goal …

This study looks at people with late-onset Pompe disease to measure antibodies against a virus used in gene therapy and against the standard enzyme replacement therapy. It also checks for biomarkers in blood and urine. About 119 teenagers and adults will give samples over 2 years…

This study looks at whether postural tachycardia syndrome (POTS) is caused by an autoimmune reaction. Researchers are testing if electrical stimulation of the vagus nerve can improve symptoms, reduce inflammation, and calm the immune system. The study includes 80 people with POTS…

This study at Boston Children's Hospital will test whether measuring thousands of proteins in a few drops of blood can predict which children with congenital heart disease will have serious complications after heart surgery. Researchers will collect blood samples from 60 children…

This pilot study looks at whether light, self-paced swimming is a tolerable activity for people with ME/CFS and related conditions like Long COVID and fibromyalgia. Participants will swim for 15-30 minutes at their own pace and track symptoms and heart rate variability using an a…

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

This study gathers genetic and health information from over 6,400 people with bicuspid aortic valve, a common heart defect. Researchers aim to find the genes responsible for the condition and why some patients later develop serious aortic disease. No treatment is given; the goal …

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

This study follows 2000 people with dilated cardiomyopathy (a weakened, enlarged heart) over several years to learn how genetics and heart scarring affect the disease. Participants give blood for genetic testing and have heart MRI scans. The goal is to improve diagnosis and pave …

This early-phase study tests whether a single dose of moxonidine, a blood pressure medication that lowers sympathetic nerve activity, can reduce symptoms like rapid heartbeat and lightheadedness in people with postural tachycardia syndrome (POTS). The trial enrolls 48 adults aged…

This study measures how often people with myotonic dystrophy type 1 fall and what factors affect their balance. Researchers will also assess fear of falling and leg muscle strength. The goal is to better understand fall risk in this condition.

This study looks at whether a substance called YKL-40 in the blood can help predict how well heart failure patients will respond to cardiac resynchronization therapy (CRT), a special pacemaker. About 51 adults with severe heart failure will have blood samples taken during their r…

This study follows 526 preterm infants born before 30 weeks who have a condition called patent ductus arteriosus (PDA), where a fetal blood vessel stays open too long. Researchers collect heart ultrasound, blood, and urine tests over the first month to predict which babies will c…

This study looks at what happens in the body to cause POTS and dysautonomia after viral infections, including COVID-19. About 100 women will give a blood sample and share medical records. Researchers will study immune system markers to find clues that could lead to better diagnos…

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

This study tests a digital tool called AsthmaOptimiser that helps doctors assess asthma control and find ways to improve treatment during a single visit. About 746 adults with asthma who have had recent flare-ups will take part. The goal is to see if the tool can identify better …

This study looks at whether transferring a frozen embryo in the first menstrual cycle after egg retrieval leads to more live births than waiting until the second cycle. Over 800 women undergoing their first frozen embryo transfer are randomly assigned to immediate or delayed tran…

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

This study watches embryos grow using time-lapse cameras and compares their development to genetic test results. Researchers hope to find visual clues that indicate a healthy embryo. 2000 IVF patients are taking part. If a link is found, it could lead to a less invasive way to ch…

This study looks at whether people with Postural Orthostatic Tachycardia Syndrome (POTS) might also have a rare condition called acute hepatic porphyria (AHP), which can cause similar symptoms like rapid heart rate and abdominal pain. Researchers will test 70 adults with POTS usi…

This study looks at how being in a hospital intensive care unit (ICU) after heart surgery affects your body's natural sleep-wake cycle. Researchers will track sleep patterns and thinking ability in 15 adults to see if disrupted rhythms slow down recovery. The goal is to understan…

This study collects blood or skin samples from 100 adults with inherited heart rhythm disorders (like Long QT Syndrome or Brugada Syndrome) and healthy volunteers. Researchers will turn these samples into stem cells and then into heart cells to study how these diseases work and t…

This early-phase study tests whether a single dose of modafinil, a drug that promotes wakefulness, can improve concentration and mental clarity in people with Postural Tachycardia Syndrome (POTS). About 20 adults diagnosed with POTS will take the drug and then complete computer-b…

This study screens people with suspected Postural Tachycardia Syndrome (POTS) and healthy volunteers to see how their bodies handle sodium and the hormone aldosterone. Participants undergo autonomic function tests and blood volume measurements. The goal is to understand if a high…

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study aimed to see if using a special pad along with a standard closure device could help patients get out of bed sooner after a heart catheterization. It was planned for adults having the procedure through the groin. However, the study was withdrawn before any participants …

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

This study at Vanderbilt University Medical Center is looking at whether people with postural tachycardia syndrome (POTS) have higher levels of certain immune proteins that might affect their symptoms. Researchers will measure these proteins in blood samples and test how the hear…

This study looks at 237 children born with hypoplastic left heart syndrome (HLHS), a serious heart defect. Researchers compare how well the heart works at age 11 in children who received one of two different shunts during their first surgery. The goal is to understand which shunt…

This study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …

This registry follows 75 pregnant women with heart disease to better understand the risks and outcomes for both mother and baby. Researchers will track health data for one year and check vital status at five years. The goal is to fill knowledge gaps and improve future care for th…

This study looks at whether drinking 16 ounces of water raises blood pressure more in the morning or the afternoon in people with orthostatic hypotension (a condition where blood pressure drops when standing). Twenty participants will drink water at two different times of day, an…

This study follows 347 heart surgery patients to understand why some develop swallowing problems (dysphagia). Researchers will use special camera tests to watch how patients swallow and look for risk factors. The goal is to create simple tools that doctors can use at the bedside …

This study compares blood samples from 212 people with and without Postural Orthostatic Tachycardia Syndrome (POTS) to see if those with POTS have higher levels of certain antibodies. Researchers also want to know if these antibodies are more common in people whose POTS started a…

This study was designed to track the natural course of gamma-sarcoglycanopathy (LGMDR5), a rare muscle-weakening disease, over two years. Researchers planned to measure changes in muscle strength, walking ability, and daily function in patients aged 6 to 35. The goal was to bette…

This study looks at why some people, especially young women, feel dizzy, tired, or have a racing heart when they stand up—a condition called orthostatic intolerance. Researchers will measure things like blood volume, sweat response, and heart rate in 260 participants to better un…

This study compares how the kidneys handle salt in people with postural orthostatic tachycardia syndrome (POTS) versus healthy volunteers. Researchers give a liter of saline intravenously and measure how much sodium is excreted in urine. The goal is to see if POTS patients have t…

This study uses a wrist-worn activity watch to measure sleep quality in people with orthostatic intolerance (a condition where standing causes dizziness) compared to healthy volunteers. Researchers want to see if these patients have worse sleep, like taking longer to fall asleep.…

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

This study is following 10,000 adults who are having a heart MRI for medical reasons. Researchers want to see if the MRI results can help predict who will have heart problems in the future, like heart attacks or heart failure. The goal is to better understand how MRI scans can gu…

This study is a registry that will follow up to 221 children with Noonan Syndrome who are already taking or starting Norditropin® for short stature. Researchers will collect information on growth, side effects, and quality of life over time. No new treatment is being tested—the g…

This study follows 20 newborns and children diagnosed with late-onset Pompe disease through newborn screening. Researchers will track their health for up to 4.5 years to document early muscle and joint symptoms, biomarkers, and quality of life. The goal is to learn when to start …

This study looks at why people with Postural Tachycardia Syndrome (POTS) often have trouble thinking clearly, known as 'brain fog.' Researchers will compare brain scans of 21 POTS patients and healthy volunteers while they do mental tasks, both sitting and under simulated standin…