Cardiogenetic disease

This trial asks whether one way of setting a breathing machine is better than another for children born with a hole in the heart who are having surgery to close it. The hole lets extra blood flow to the lungs, which can make them stiff and harder to inflate. During surgery, a mac…

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 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…

Autistic children drown at 160 times the rate of their peers, yet standard swim lessons often fail them. This study tests a new approach that adapts instruction based on a child's sensory profile—whether they seek, avoid, or have mixed reactions to sensory input. Researchers will…

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 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 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 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 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 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 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 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 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 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 trial evaluates a new high-sensitivity blood test (Mindray hs-cTnI) for diagnosing heart attacks in people arriving at the emergency room with symptoms like chest pain. Researchers will compare the test's accuracy against an existing approved test, using blood samples taken …

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 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 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 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 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 trial tests whether a 12-week ketogenic diet program, delivered entirely online, is practical and acceptable for adults with Long COVID who also have ME/CFS and dysautonomia. Participants follow a low-carb, high-fat diet with vitamin B1 and electrolyte support, plus weekly v…

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 looks at whether the 'circle method' — a way to measure the aortic valve — can help doctors choose the right size replacement valve for people with bicuspid aortic valves who are getting a TAVI procedure. Researchers will review past cases to see if patients whose valv…

This study tests a small, wearable ECG patch that uses artificial intelligence to monitor heart rhythms in patients recovering from cardiac surgery. Participants wear the patch for up to a week after leaving the intensive care unit. The goal is to see if the device can reliably t…

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 investigates whether people with late-onset Pompe disease have a higher risk of severe blood vessel problems in the brain and aorta. Researchers will collect medical and genetic data from adults with Pompe disease and from those who have had a brain aneurysm or bleedin…

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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…