Cardiogenetic disease

This study explores whether combining a high-protein Mediterranean diet with resistance exercise can help people with heart disease build muscle and lower their risk of future heart problems. The trial enrolls adults who have completed cardiac rehab and may have low muscle mass w…

This study tests whether a three-month smartphone-supported walking program can improve daily step counts, psychological well-being, and body composition in adults with cardiovascular disease or type 2 diabetes. Participants use the Walk15 app to set personalized step goals and t…

This study tested a coaching program called MACRO-I for adults aged 70 and older who had a heart event. The program used coaches to guide patients through starting cardiac rehab, either at a center, at home, or a mix of both. 416 participants were split into the coaching group or…

This study tested the safety and effectiveness of eliglustat, an oral medication, in 57 children aged 2 to 17 with Gaucher disease types 1 and 3. Some children also received the standard enzyme therapy imiglucerase. Researchers measured how the drug moves through the body, side e…

This study followed 500 people who received the Amplatzer PFO Occluder, a device that closes a small hole in the heart called PFO. Researchers tracked serious complications within 30 days and longer-term issues like stroke or blood clots over 3 years. The goal was to confirm the …

This study tested giving chemotherapy before surgery to children with Wilms tumor, a rare kidney cancer. The goal was to shrink tumors so surgeons could remove less kidney tissue, helping preserve kidney function. 249 children took part, and the approach aimed to reduce the need …

This study tested the safety of a drug called maralixibat in 27 infants under 12 months old with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC), two rare liver diseases that cause bile buildup. The drug is given as an oral solution and aims to reduce bi…

This early-stage trial tested a new gene therapy called FLT201 in 10 adults with Gaucher disease type 1. The therapy uses a harmless virus to deliver a working copy of the gene that produces a missing enzyme. The main goal was to check safety and see if the treatment can boost en…

This study tested whether placing the left ventricle lead of a cardiac resynchronization therapy (CRT) device at the heart's latest electrical activation spot improves outcomes. It included 1,000 heart failure patients with bundle branch block. The goal was to see if this targete…

This study tested a procedure called radiofrequency catheter ablation in 20 people with Brugada syndrome, a heart condition that can cause dangerous heart rhythms. Half received the real ablation, which uses heat to destroy small areas of heart tissue thought to cause the problem…

This early-phase study tested a new drug called ABX1100 in 46 people, including healthy volunteers and patients with late-onset Pompe disease. The main goal was to check safety and how the drug moves through the body. Researchers gave single or multiple doses to find the right am…

This study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…

This early-phase trial tested a combination of three drugs—vemurafenib, cetuximab, and irinotecan—in 47 people with advanced solid tumors that have a specific BRAF V600 mutation and could not be removed by surgery or had spread. The main goal was to find the safest dose and under…

This early-phase trial tested IC14 (atibuclimab), an antibody that targets inflammation, in one person with arrhythmogenic cardiomyopathy (ACM), a rare heart muscle disease that can cause dangerous heart rhythms. The study measured safety, blood markers of inflammation, and heart…

This phase 3 trial tested the drug patisiran in 360 people with ATTR amyloidosis with cardiomyopathy, a condition where abnormal protein builds up in the heart, making it stiff and weak. Participants received either patisiran or a placebo intravenously. The study measured how far…

This study tested a once-daily pill called orforglipron against insulin glargine in nearly 2,750 adults with type 2 diabetes, obesity or overweight, and increased cardiovascular risk. The main goal was to see if orforglipron could reduce major heart events like heart attacks or s…

This study compared two hormone protocols for women with high ovarian response undergoing IVF. One used progesterone (dydrogesterone) and the other used a GnRH antagonist. The goal was to see which approach leads to more eggs retrieved and higher pregnancy rates. 200 women partic…

This Phase 3 trial tested a gene therapy called GS010 in 98 people with Leber hereditary optic neuropathy (LHON), a genetic condition that leads to rapid vision loss. Participants received injections of the therapy or a placebo into both eyes. The study measured changes in vision…

This early-phase study tested a new gene therapy called ACTUS-101 in 7 adults with late-onset Pompe disease. The main goal was to check safety and side effects. Participants received a single intravenous dose, and researchers monitored their health over time.

This study tested two ways of managing breathing during heart bypass surgery to see which better prevents lung complications. Over 1,500 adults having planned heart surgery were randomly assigned to either no breathing support or gentle, low-volume breaths while on the heart-lung…

This study tested whether taking an oral progesterone pill (Seidigestan) can prevent early ovulation during IVF as well as the standard daily injections (Astarté). 150 healthy egg donors participated. If the pill works just as well, it could make IVF more convenient and less pain…

This study tested the safety and effectiveness of atorvastatin (Lipitor) in 15 children with Alagille syndrome who had skin cholesterol deposits called xanthomas. The children took the drug for 6 months, and doctors graded the size and number of the lumps. The goal was to see if …

This study looked at whether giving thiamine (vitamin B1) for 28 days after a heart defect repair procedure helps children's hearts recover. The trial included 86 children aged 6 months to 18 years with certain heart defects. Researchers measured heart structure and function usin…

This study looked at whether giving a higher dose of vaginal progesterone (800 mg vs 1200 mg daily) can improve pregnancy rates in women with low progesterone levels on the day of embryo transfer. It involved 87 women undergoing a single frozen embryo transfer. The goal was to se…

This study tested a ready-to-use calcium ionophore medium (GM508 CultActive) on eggs from 68 IVF patients who had low fertilization rates, poor embryo quality, or were over 40. The medium was applied shortly after sperm injection to try to improve fertilization and embryo develop…

This study tested an oral drug called ifetroban in 46 males aged 7 and older with Duchenne muscular dystrophy (DMD). The goal was to see if the drug is safe and can help prevent or treat heart problems, which are a leading cause of death in DMD. Participants received either ifetr…

This study tested a special device (GORE® CARDIOFORM ASD Occluder) to close a common type of hole in the heart called an atrial septal defect (ASD). The goal was to see if the device could safely and effectively seal the hole using a tube inserted through a blood vessel, avoiding…

This study tested a new delivery system for implanting devices that close holes in the heart, such as PFO and ASD. It involved 254 patients and measured how well the system worked and how safe it was. The goal was to confirm that the system performs well in real-world use.

This study tested whether giving acetaminophen (a common pain and fever medicine) to extremely preterm babies within the first 12 hours after birth can help close a blood vessel in the heart that normally closes on its own. The trial involved 804 babies born between 23 and 28 wee…

This study tested a new drug called AOC 1001 in 39 adults with myotonic dystrophy type 1, a genetic muscle disorder. Participants received either the drug or a placebo by IV infusion. The goal was to check safety and how the drug moves through the body. Results will help decide i…

This study tested a new device called Absnow that can close a common type of hole in the heart (atrial septal defect) and then dissolve over time. 165 patients, including children as young as 3, received the device. The goal was to see if it safely closes the hole without major p…

This study tested whether a single dose of dantrolene, a muscle relaxant, could reduce the risk of dangerous heart rhythms in 68 people with structural heart disease who were scheduled for a procedure to treat ventricular tachycardia. Participants received either dantrolene or a …

This study tested the long-term safety of a combination therapy (ATB200 and AT2221) in 119 adults with late-onset Pompe disease who had completed a prior study. Participants received the drugs for an extended period, and researchers tracked side effects, walking distance, and lun…

This study followed 62 people with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes vision loss, for up to 5 years after they received a single gene therapy treatment called GS010. The goal was to see if the treatment remained safe and if any vis…

This phase 3 trial tested a single injection of GS010 gene therapy in 39 people with Leber Hereditary Optic Neuropathy (LHON) who had vision loss for 6 months or less. The treatment aims to improve vision by delivering a working copy of the ND4 gene to the eye. Results measured c…

This study tested a one-time gene therapy injection, GS010, in 37 adults with Leber Hereditary Optic Neuropathy (LHON), a genetic condition that causes rapid vision loss. Participants had vision loss for 6 to 12 months before treatment. The goal was to see if the therapy could im…

This study tested a gene therapy called GS010 in 19 adults with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes rapid vision loss. The main goal was to see if the treatment is safe and tolerable at different doses. The therapy uses a harmless vi…

This study tested different treatments for autonomic dysfunction, including POTS, in 381 adults with Long COVID. It compared non-drug approaches and medications to see which best eased symptoms like rapid heart rate and dizziness. The goal was to find effective ways to manage the…

This study compared a newer pacing method, called HIS or left bundle branch (LBB) pacing, to the standard biventricular pacing in 150 heart failure patients with a specific heart electrical problem (left bundle branch block). The goal was to see if the new method could improve he…

This study tested whether intensive dental cleaning and oral hygiene advice can improve gum health and also affect markers of heart disease and type 2 diabetes. About 200 adults with gum disease and either heart disease or diabetes (or prediabetes) took part. Researchers measured…

This early-stage trial tested a single dose of the drug PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a genetic muscle disorder. The main goal was to check safety and how the body handles the drug. The study is complete, but results are not yet available.

This small completed study looked at a blood filtering procedure called double-filtration plasmapheresis (DFPP) in 5 kidney dialysis patients with very high levels of lipoprotein(a), a fatty substance linked to heart disease and blood clots. The goal was to see if DFPP could lowe…

This study tested a small device that delivers gentle electrical currents to the heart in 70 people with severe heart failure. Participants received either the device plus standard medications or medications alone. The main goal was to see if the device improved the heart's pumpi…

This study tested a procedure that blocks certain nerves to the heart in 18 people with life-threatening, uncontrollable heart rhythm problems (called electrical storm). The goal was to see if it could reduce dangerous heart episodes and the need for defibrillator shocks. The app…

This phase 3 study tested TAK-625 (maralixibat) in 7 Japanese children with Alagille syndrome, a rare genetic liver disorder. The goal was to see if the drug reduces bile acid levels and itching, and to find the best dose. Participants took the drug daily for up to 34 months, wit…

This study tested whether injecting a child's own heart stem cells during a planned surgery could help their heart work better. It involved 25 children with hypoplastic left heart syndrome, a condition where the left side of the heart is underdeveloped. The main goals were to see…

This study tested whether a drug called alirocumab, which lowers cholesterol, can reduce heart disease risk in people with HIV. The trial involved 118 adults aged 40 and older with well-controlled HIV and high heart disease risk. Participants received either alirocumab or a place…

This completed trial looked at whether taking two cholesterol-lowering drugs (rosuvastatin and ezetimibe) is more effective and safer than taking just one (rosuvastatin) for people with heart disease. 66 adults with high cholesterol were randomly assigned to one of the two treatm…

This early-stage trial tested an oral drug called JAB-3312 in 40 adults with advanced solid tumors (like lung, colon, or breast cancer) that had stopped responding to standard treatments. The main goals were to find a safe dose and check for side effects. Researchers also looked …

This study tested whether paracetamol works as well as ibuprofen for closing a common heart duct problem in premature infants. 133 babies born at or before 30 weeks were randomly given one of the two drugs. The goal was to see which drug closes the duct more effectively and safel…

This study tested whether using cardiac MRI to guide ablation (a procedure that destroys small areas of heart tissue) can improve outcomes for people with ventricular tachycardia, a dangerous fast heart rhythm. 104 adults with structural heart disease were randomly assigned to on…

This study looked at the SAPIEN XT heart valve, which is placed through a thin tube (catheter) to fix a failed valve in the heart's right ventricle. Researchers wanted to confirm it is safe and works well. They enrolled 57 people with a narrowed or leaky heart valve conduit. The …

This study tested a high dose of a fertility drug called follitropin delta, mixed with another hormone (hCG), in 118 women undergoing IVF. The goal was to see if this combination could improve the number of good-quality embryos. The study was completed and focused on women aged 1…

This study looked at the long-term safety of a drug called maralixibat in 52 people with cholestatic liver disease, including Alagille Syndrome and other rare conditions. Participants had already taken maralixibat in an earlier study. Researchers tracked side effects and how well…

This study looked at whether giving ulinastatin during heart surgery can lower the chance of lung complications like infections or breathing failure. Researchers analyzed data from over 4,500 patients and also used computer models to understand how the drug works. The results sug…

This study tested whether a new combination of two drugs (ATB200 and AT2221) is safe for adults with Pompe disease, a rare genetic disorder that causes muscle weakness. 29 participants received the drugs through an IV and by mouth. The main goal was to check for side effects and …

This study is a follow-up to an earlier trial, testing the long-term safety and effects of a drug called AOC 1001 in adults with myotonic dystrophy type 1 (DM1), a genetic muscle disease. 37 participants who completed the first study received multiple doses of AOC 1001 by IV infu…

This study tested whether giving vitamin E (alpha-tocopherol) during heart surgery could reduce heart muscle damage in children with Tetralogy of Fallot, a birth defect. 58 children aged 1-10 years received either vitamin E or a placebo at the start of surgery. The main goal was …

This study looked at whether a three-month diet and exercise program before IVF could improve live birth rates in overweight and obese women. 197 women were randomly assigned to either the weight loss group or a control group. The goal was to see if losing weight beforehand leads…

This study tested a pacemaker feature called AutoAdapt that automatically adjusts timing settings to help the heart pump better. It involved 198 people with heart failure who needed a special pacemaker. The goal was to see if this smart feature improves symptoms, reduces hospital…

This phase 2 study tested the safety and effectiveness of tideglusib, an experimental drug, in 16 adolescents and adults with congenital or juvenile-onset myotonic dystrophy type 1. Participants received either 400 mg or 1000 mg of tideglusib daily. The study measured side effect…

This phase 3 trial tested a new treatment for adults with late-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. Participants received either the experimental combo (cipaglucosidase alfa plus miglustat) or the current standard therapy (alglucosidase…

This study tested whether two wearable devices—the Apple Watch and the Skylab CART-I ring—can accurately detect atrial fibrillation and other irregular heart rhythms compared to the standard 12-lead ECG. Researchers recruited 500 adults from UK cardiology clinics. Each participan…

This study looked at whether a special eye scan (SS-OCTA) can detect signs of cardiovascular disease. Researchers compared retinal blood vessel changes to results from a standard carotid ultrasound in 42 adults. The goal was to see if the eye scan could predict the presence or se…

This study tested a non-invasive mapping system (Cardioinsight®) to help doctors treat heart rhythm disorders. It included 492 patients who needed ablation, pacemaker implantation, or risk assessment for sudden death. The goal was to see if the mapping system improves outcomes co…

This completed study looked at 313 children to see if blood tests and advanced heart scans could help detect congenital heart disease earlier and predict which children might need surgery. Researchers compared children with heart defects to healthy controls using blood biomarkers…

This study tested whether an iPhone ECG device (AliveCor) can accurately measure the QT interval of the heart compared to a standard 12-lead ECG. Researchers studied 29 hospitalized patients starting medications that can affect the QT interval. The goal was to see if the iPhone r…

This study tested whether an AI-powered smart stethoscope can accurately detect structural heart disease in over 6,600 students aged 10-18 in China. Trained staff used the device to listen to heart sounds, and the AI flagged potential issues. Students with positive results, plus …

This study tested a new non-invasive tool called ECG-Imaging that uses many electrodes on the body to create a 3D map of the heart's electrical activity. The goal was to see if it can more accurately locate the source of heart rhythm problems compared to a standard ECG. 362 parti…

This study tested a new contrast agent called NH002 in 36 adults with heart disease. The agent is used during heart ultrasound to make the heart's chambers and borders clearer. The main goal was to check safety by monitoring vital signs, heart activity, and allergic reactions aft…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

This study tested two new tools for diagnosing tuberculosis (TB): a software that analyzes chest X-rays (CAD4TB) and a blood test that measures C-reactive protein (CRP). Researchers enrolled 1,400 adults with TB symptoms in Lesotho and South Africa. They compared these tests to s…

This study looked at how often older adults with heart disease risk factors should exercise to improve fitness and blood pressure. Twenty-two participants did combined training either twice or three times a week for 12 weeks. The goal was to see which frequency worked better for …

This study tested whether giving paracetamol (a common painkiller) early can prevent a heart opening called PDA from staying open in extremely premature infants (born before 30 weeks or under 1250 grams). 40 babies were randomly given either paracetamol or the standard drug indom…

This study tested an 8-week digital lifestyle program called MYCardio-PEER for low-income adults at risk of heart disease. Participants received weekly videos and infographics on healthy eating and exercise, plus group chats with peer leaders. The goal was to see if the program i…

This study looked at whether a home-based physical activity program and computer-based cognitive training could help prevent memory loss in older women with heart disease. 253 women aged 65 and older participated. The goal was to see if these lifestyle changes could improve memor…

This completed study tested whether sending behavioral nudges through Denmark's official electronic letter system could increase flu vaccination among adults aged 18-64 with chronic diseases. Over 300,000 participants were randomly assigned to receive different types of letters o…

This study tests whether virtual reality training can help children aged 6 to 16 with the childhood form of myotonic dystrophy type 1 (DM1) improve their ability to understand others' thoughts and emotions. Participants engage in social scenarios in a virtual environment, guided …

This study tested whether a nasal spray containing vasopressin, a natural hormone, can improve social functioning in children with autism. 157 children aged 6 to 17 took part. Researchers measured changes in social responsiveness and overall symptoms over 8 weeks.

This study looked at two methods to reduce pain after heart surgery through a cut in the chest bone. 120 adults received either a nerve block near the breastbone, pain medicine injected into the wound, or standard painkillers. Researchers measured pain levels using a saliva test …

This completed trial tested an 8-week program called Healing Hearts Together (HHT) for couples where one partner has heart disease. 474 couples attended weekly group sessions focused on communication, emotional support, and heart health. The goal was to see if the program improve…

This completed Phase 2 trial tested whether blood thinners (rivaroxaban) or antiplatelet drugs (aspirin, clopidogrel) work better than standard migraine medication (metoprolol) for people with both migraine and a small heart hole called PFO. 1,000 participants took one of the fou…

This study tested whether a 20-minute session of nurse-led spiritual care, including prayer and relaxation techniques, could help heart surgery patients feel less anxious and have more stable blood pressure and heart rate before their operation. 248 adults in Indonesia took part.…

This small pilot study tested whether mirabegron, a drug typically used for overactive bladder, can raise blood pressure and reduce fainting in people with POTS who have low blood pressure that standard treatments didn't help. Twenty adults took either 25 mg or 50 mg of the drug …

This pilot study tested whether a 12-week aquatic occupational therapy program could reduce symptoms and improve quality of life in people with Postural Orthostatic Tachycardia Syndrome (POTS). Five adults with POTS completed three 60-minute pool sessions per week, including gent…

This study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…

This study tested whether adapted judo training plus nutritional counseling could improve physical fitness, body composition, and stability in children and adolescents with autism spectrum disorder (ASD). One hundred participants aged 7–14, with and without ASD, took part in 10 m…

This study tested whether a 3-month yoga program could improve physical and mental health in adults over 65 who had recently finished cardiac rehab. Participants attended yoga twice a week. Researchers measured balance, muscle strength, anxiety, and mood. The goal was to see if y…

This completed Phase 2 trial tested whether ivabradine, a drug that slows heart rate, can reduce symptoms like dizziness and rapid heartbeat in people with long COVID. 181 participants received either ivabradine or a placebo for 3 months, with follow-up for another 3 months. The …

This study looked at 60 children aged 3-8 years who needed a procedure to close a hole in their heart. Researchers compared general anesthesia to a lighter sedation combined with numbing medicine at the catheter site. They measured heart rate and blood pressure to see which appro…

This study tested whether adding a tramadol injection to a continuous local anesthetic (levobupivacaine) delivered through a wound catheter can reduce the need for morphine after heart surgery via sternotomy. 160 adults undergoing various heart surgeries were enrolled. The goal w…

This completed study looked at 90 people with lower back pain from conditions like herniated discs or spinal stenosis. Researchers compared two different target areas for injecting numbing medicine during a lumbar spine block to see which provides better pain relief and blood flo…

This study tested if combining cartoon-watching with nurse interaction could ease pain in children after heart surgery. 70 kids aged 3-7 took part; half got standard pain care, and the other half also watched cartoons with a nurse. The goal was to see if this fun, non-drug approa…

This study tested a breathing exercise called the active cycle breathing technique in 120 adults who had just had heart surgery. The exercise combines controlled breathing, deep breaths, and huffing or coughing to help clear the lungs and improve breathing. Researchers measured w…

This study looked at whether using a Passy-Muir valve (a small device that helps people with a tracheostomy speak) can also improve how far they can walk. 26 adults with a tracheostomy completed several 6-minute walk tests, alternating between using the valve and leaving the trac…

This study tested a 9-week internet-based cognitive behavioral therapy (CBT) program designed to reduce stress, anxiety, and depression in people with stable heart disease. 215 adults with heart disease and elevated stress or mood symptoms took part. The program was personalized …

This study tested a device that gently stimulates a nerve in the neck (called nVNS) to see if it can reduce symptoms like dizziness and fatigue in teenagers with POTS, a condition that causes a rapid heart rate upon standing. Forty teens with newly diagnosed POTS took part at May…

This study tested whether high-dose inspiratory muscle training (IMT) using a handheld device is safe and feasible for people with late-onset Pompe disease. 34 adults with stable Pompe disease did remote breathing exercises. Researchers measured changes in respiratory strength an…

This study tested whether adding virtual reality (VR) driving simulations to standard cardiac rehabilitation helps heart surgery patients feel less anxious and depressed. Sixty adults recovering from heart surgery took part. The results suggest VR can improve emotional well-being…

This study explored how family members share health information about genetic diseases like sickle cell, diabetes, and cancer. Over 1,000 adults completed surveys or interviews about their family health history and support. The goal was to understand social and relational factors…

This study looks at tiny nerve fibers in the skin of people with Long COVID, POTS, diabetic neuropathy, and those who had COVID-19 without lasting symptoms. By comparing skin samples, researchers hope to find unique patterns that help explain ongoing symptoms like pain and dizzin…

This study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…

This study looks at people with neurofibromatosis type 1 (NF1) and their families to find out why some have more severe symptoms than others. Researchers will collect medical history, blood samples, and images to study genes and physical traits. The goal is to identify genes that…

This study tested whether a newer type of MRI called 4D flow can more accurately measure leakage in the pulmonary valve and heart chamber size in people born with tetralogy of Fallot who had corrective surgery. Researchers compared 4D flow MRI with standard 2D MRI in 21 patients …

This study looks at how inherited heart rhythm problems (like Long QT Syndrome) and heart muscle diseases (like Hypertrophic Cardiomyopathy) affect the quality of life and physical activity of children aged 6 to 18. Researchers will compare 107 children with these conditions to 1…

This study looked at how blood vessel stiffness affects organs like the heart, brain, kidneys, and gut in people with Williams Syndrome (WS) or supravalvular aortic stenosis (SVAS). Researchers compared 159 participants (ages 3–85) with these conditions to healthy volunteers over…

This study follows 150 people with bicuspid aortic stenosis—a narrowed heart valve present from birth—who receive a transcatheter aortic valve replacement (TAVI) using the Evolut Pro or Evolut R XL device. Researchers will measure how well the valve works over time, including blo…

This pilot study tested whether giving inhaled nitric oxide gas during laparoscopic surgery could protect blood vessels and organs in 40 adults with heart disease. Half received the gas through their breathing tube during surgery, and half received standard care. Researchers meas…

This completed study observed 528 adults who had heart surgery and were admitted to the intensive care unit (ICU). Researchers tracked deaths, serious complications like stroke or infection, and patient details to identify risk factors. The goal is to use this information to impr…

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

This study collected DNA, tissue, and medical history from 305 people with Williams syndrome or supravalvar aortic stenosis (SVAS), as well as their family members and healthy volunteers. The goal was to create a resource for future research to understand why symptoms vary so muc…

This study looked at 150 Caribbean Hispanic adults with heart disease or stroke risk who take the blood thinner clopidogrel. Researchers wanted to see if certain gene variants affect how well the drug works. The goal is to understand why some people get less benefit and to pave t…

This early-phase study in 17 healthy male volunteers examines how a natural sugar modification on the heart hormone ANP changes its effects on blood pressure and fluid balance. Participants receive intravenous infusions of both the sugar-modified and unmodified forms of the hormo…

This study tested a new way to predict dangerous heart rhythm problems after a common heart valve procedure called TAVR. Researchers combined ECG results with CT scan measurements and implant depth to see if they could safely identify low-risk patients. The study looked back at 2…

This study checked how well over 5,000 heart patients follow their prescribed medicine routine. Researchers asked patients about their medication habits and any side effects. The goal was to understand how many patients do not take their medicines as directed.

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This study looked at how well a new heart monitor (Assert-IQ) detects atrial fibrillation (an irregular heartbeat) in people who have had a heart ablation procedure. 151 participants wore the monitor as part of their normal care. Researchers compared the monitor's readings to a s…

This study used computer simulations to compare three types of radiation (photons, protons, and carbon ions) for treating a dangerous heart rhythm called ventricular tachycardia. Researchers created treatment plans for 23 patients who were already scheduled for standard catheter …

This study looked at 11 people with a repaired heart condition called tetralogy of Fallot who needed a new pulmonary valve. Researchers used MRI scans to measure heart muscle stiffness (fibrosis) and how well the heart pumped during rest and exercise. The goal was to see if these…

This study looked at 300 women undergoing frozen embryo transfer as part of IVF treatment. Researchers measured progesterone levels in the blood to understand how the body processes the hormone. The goal was to find out if low progesterone on transfer day leads to higher failure …

This study aimed to make heart rate monitors more accurate for people with heart conditions. Researchers collected data from 138 participants, including cardiac patients and athletes, using Fitbit and Polar devices over 13 weeks. The goal was to remove false readings and develop …

This study tracked 1,826 people who received a small implantable heart monitor (Confirm Rx) to check for irregular heartbeats. Over 12 months, researchers recorded how often the device caused serious problems and how well it worked in daily life. The goal was to see if the monito…

This study tested whether using a contrast dye during 3D ultrasound can accurately measure the size and function of the right heart chamber in people who had surgery for congenital heart disease. 25 participants received an injection of Lumason (an ultrasound contrast agent) and …

This study tested a program where doctors refer inactive people with chronic diseases (like diabetes, heart disease, or obesity) to an exercise professional for personalized counseling. The goal was to see if this referral scheme helps people become more active compared to just g…

This study looked at 541 premature babies with a heart condition called patent ductus arteriosus (PDA). Half received ibuprofen to close the vessel, while the other half got only supportive care like fluids or diuretics. Researchers compared closure rates and complications to see…

This study checked whether the Turkish version of the Cardiac Depression Scale (CDS) works well for people with heart disease. Researchers tested 360 Turkish adults with various heart conditions to see if the scale accurately measures depression. The goal is to give doctors a rel…

This completed study looked at 400 people with both heart disease and a mental health condition (like depression or anxiety). Researchers used questionnaires, blood tests, and imaging to find shared risk factors and biological markers. The goal was to better understand how these …

This study looked at whether wearing an activity monitor (like a Fitbit) after heart surgery helps patients get moving sooner and return to their normal activity levels faster. Researchers tracked motivation, length of hospital stay, and readmission rates in 12 adults who had car…

This study looked at 537 people with myotonic dystrophy type 1 to understand their risk of serious heart rhythm problems, including sudden cardiac arrest. Researchers tracked participants for two years to see how often these events happened and what factors might predict them. Th…

This study tested whether special communication training for pharmacists and general practitioners helps them involve older patients in decisions to stop or lower medications for heart disease and diabetes. Researchers enrolled 310 patients aged 75 and older who were taking certa…

This study looked at 44 people with a rare inherited eye condition called Leber Hereditary Optic Neuropathy (LHON) that causes vision loss. Researchers reviewed medical records and asked participants about their vision, health, and quality of life. The goal was to better understa…

This study looked at children aged 6 to 18 who had heart surgery before they were 3 months old. Researchers asked parents to fill out a questionnaire about their child's emotions, behavior, and social skills. The goal was to see if these children face any developmental challenges…

This study tested whether a theory-based motivational letter mailed six months in advance could increase attendance at a one-year post-cardiac rehabilitation check-up. Researchers compared 102 adults who received the letter to those who got usual care. The goal was to see if a si…

This study measured levels of brain chemicals related to oxidative stress and inflammation in people with type 1 Gaucher disease and healthy volunteers. Researchers gave 33 participants with Gaucher disease the antioxidant N-acetylcysteine (NAC) for about 90 days to see if it cha…

This study tested a new imaging system called VERAFEYE in 18 people already scheduled for standard heart procedures like ablation or closure. Doctors used the device during the procedure and gave feedback via a questionnaire. The goal was to gather information to improve the syst…

This study looked at how Chinese Americans talk about advance care planning—decisions about end-of-life care—with their families. Researchers interviewed religious leaders, patients with chronic diseases, and family caregivers in Chicago to understand their needs and readiness. T…

This study collected blood and tissue samples from 91 adults with aortic valve disease to look for genetic differences that might explain why some develop aortic aneurysms. Researchers compared gene activity in people with bicuspid valves, tricuspid valves, and healthy controls. …

This study followed 30 adults with myotonic dystrophy type 1 (Steinert disease) and 30 healthy volunteers over three years to see how muscle strength and function change naturally over time. Researchers measured things like muscle power, walking ability, and nerve responses to fi…

This completed early-stage study looked at whether a single dose of HSK3486, an anesthesia drug, changes the heart's electrical activity in 48 healthy adults aged 18 to 45. The main goal was to measure any effects on heart repolarization (QTc interval) and check for side effects.…

This study tested whether a special belt that creates images of the lungs (Electrical Impedance Tomography) can safely help doctors choose the best pressure settings on a breathing machine for infants under 3 years old. The study included 14 children with various serious conditio…

This study reviewed medical records of 12 children with CHARGE syndrome who had cochlear implant surgery. Researchers looked at their ear bone structure and surgical challenges to find ways to make the operation safer. The goal is to help surgeons better prepare for the unique an…

This study looked at how well a daily low-dose aspirin works in people who have both immune thrombocytopenia (low platelets) and heart disease. Only 4 adults took part. Researchers measured platelet function after aspirin to see if the standard dose is enough to prevent blood clo…

This study tested whether a systematic phone call from a medical student, supervised by a general practitioner, could reduce hospitalizations in patients with chronic heart or mental health conditions during the COVID-19 lockdown in France. Over 22,000 patients aged 70 and older …

This study looked at 320 adults who had heart surgery to see how well two different risk scores (EuroSCORE-II and POSPOM) predict the chance of dying in the hospital. Researchers calculated each patient's scores before surgery and compared them to what actually happened. The goal…

This study looked at whether orienteering (a navigation-based walk) is as good as regular walking for heart rehab. 40 people with stable heart disease took part. Researchers measured heart rate and enjoyment during both activities. The goal was to see if orienteering could be a f…

This study tested whether 3D-printed heart models or augmented reality (AR) help first-year medical students understand two rare heart defects better than traditional slide lectures. 26 students took a quiz before and after learning with one of the three methods. The goal was to …

This study looked at whether a 6-minute stepper test (ST6) can accurately measure exercise tolerance in people with heart conditions undergoing rehabilitation. Researchers compared the stepper test results with the standard 6-minute walk test and a cardiac stress test in 60 patie…

This study looked at whether showing health warning messages in a mobile app where people buy alcohol affects their purchasing. Over 11,700 adults in Sweden took part. One group saw rotating health warnings, while the other saw standard messages. The researchers tracked purchases…

This study tested a new computer algorithm that analyzes heart signals during a procedure called ablation for persistent atrial fibrillation (a type of irregular heartbeat). The goal was to see if the system could collect and process these signals to help doctors better understan…

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

This study followed 113 adults with myotonic dystrophy (Steinert's disease) for 5 years to find out what factors lead to low breathing (hypoventilation). Researchers measured lung function, sleepiness, fatigue, and thinking skills. The goal is to better understand which patients …

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…

This study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …

This study looked at whether briefly pressing on the phrenic nerve during lung surgery could help reduce complications like air leaks. Researchers compared 55 patients who had this temporary nerve compression with those who did not. They measured diaphragm activity, lung function…

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This study tested an indoor air pollution intervention called AIRWISE in 20 adults aged 55 and older with heart disease. Participants received personal air cleaners, a color-changing air quality monitor, and educational materials. The goal was to see if they would use these tools…

This completed study tested whether healthcare claims data can predict the results of a major heart trial (SURPASS-CVOT) comparing two diabetes drugs, tirzepatide and dulaglutide. Researchers analyzed records from over 44,000 people with type 2 diabetes and heart disease to see i…

This study looked at 18 heart failure patients with a specific heart block to find the best spots for pacing the heart's natural electrical system. Doctors used a 3D mapping system during device implant to see where pacing corrects the heart's rhythm. The goal was to gather infor…

This study looked at whether near-infrared spectroscopy (NIRS), a non-invasive light-based monitor, can detect changes in a common heart condition in very premature babies. Researchers measured oxygen levels in the brain and kidneys of 26 babies born before 32 weeks and compared …

This study looked at 40 children with autism and 40 healthy children, ages 5 to 10, to see how posture, hand function, and sensory processing affect nutrition. Researchers measured head posture, balance, hand strength, and feeding behaviors. They found that children with autism h…

This study followed 214 children born from two different fertility treatments—CAPA-IVM and conventional IVF—to see if their development and behavior at age 5 were similar. Researchers used parent questionnaires to assess communication, motor skills, problem-solving, and emotional…

This completed Phase 1 study at Vanderbilt University looked at how the renin-angiotensin-aldosterone system works in people with POTS, a condition that causes a rapid heart rate and dizziness upon standing. Researchers gave 28 participants (including healthy controls) a one-hour…

This completed study from the University of São Paulo measured physical activity levels and quality of life in 100 adults with cardiac arrhythmias. Researchers used questionnaires to see how active patients were and how they felt physically and mentally. The goal was to understan…

This study looked at 87 women who had no eggs retrieved during their first IVF cycle. Researchers wanted to see if a second round of ovulation-inducing medication could lead to successful egg retrieval. The goal was to understand which factors might predict failure and how to imp…

This study investigates why people with myotonic dystrophy type 1 are 10 times more likely to develop dangerous blood clots in the legs or lungs. Researchers will compare blood samples from 130 participants—including patients with the disease, those with a history of clots, and h…

This study looked at two ways to assign care coordinators to older adults (65+) with heart disease or risk factors. One method used patients' own reports of difficulty coordinating care, while the other used usual triggers like hospital discharge. The goal was to see which approa…