Familial cardiomyopathy

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…

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 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 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 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 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 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 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 study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…

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 letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…

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 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 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 translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…

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 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 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 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 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 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 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 specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…

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 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 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 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 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 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 completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …

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 surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …

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…