Familial cardiomyopathy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This study offers expanded access to a PET scan using a radioactive tracer called 18F-DOPA to locate small, insulin-producing lesions in the pancreas. It is for patients with congenital hyperinsulinism, Beckwith-Wiedemann syndrome, or insulinoma who have low blood sugar. The goal…

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

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

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

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

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

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

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

This study looks at whether doing breathing exercises before orthopedic surgery (like knee, hip, or fracture repair) can help your lungs work better after the operation. It involves 36 adults who have used tobacco and are at risk for breathing problems after surgery. Participants…

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

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

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

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

This study tests whether a program of exercise and ergonomics training can reduce muscle and joint pain in teachers. About 80 teachers who have had pain for at least three months will be randomly assigned to receive the training or not. Researchers will measure changes in pain, d…

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

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

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

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

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

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

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

This study tests whether extra support for case managers helps veterans leaving the military better manage pain and reduce risky substance use. About 1800 veterans will take part. The program focuses on non-drug pain treatments and counseling.

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

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

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

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

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

This study aims to learn more about heart and blood vessel diseases by observing people who have them or are at risk. Researchers will collect samples and perform tests like imaging and stress tests on up to 5,000 participants, including healthy volunteers and relatives of affect…

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

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

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

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

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

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

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

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

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

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

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

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

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

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

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

This study translates and tests several health questionnaires—covering pain, arm and leg function, mood, and daily activities—for use with Albanian-speaking people. Researchers will check if the translated versions are reliable and accurate by giving them to about 300 participant…

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

This study tests a new tool called the PRISM Dashboard, which gives physiotherapists feedback on how their decisions compare to their peers. The goal is to see if this feedback helps reduce differences in care for people with muscle and joint pain. About 60 physiotherapists and t…

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

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

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

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

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

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

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

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

This study explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This study is building a large online registry of 10,000 adults with cardiomyopathy or myocarditis, plus those with a strong family history. Researchers will track participants over time to see how many experience serious events like heart failure, dangerous heart rhythms, or dea…

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

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

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

This study follows 252 adults with muscle, bone, or joint problems (like arthritis, back pain, or after surgery) to see how well they do their prescribed home exercises. Researchers will track who sticks with the program and why, looking at factors like pain, mood, and support. T…

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

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

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

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

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

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

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

This study tests whether using a virtual reality (VR) headset during shoulder exercises helps patients feel more engaged and motivated. Fifty adults with shoulder problems will do rehab exercises in a VR environment and then answer questionnaires about how easy and immersive the …

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

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

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

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

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

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

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

This study aims to create a secure national database for muscle and joint (musculoskeletal) conditions by collecting routine data from community clinics and GP practices. About 22,000 adults will have their information anonymously gathered to help develop a dashboard that tracks …

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

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

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

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

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

This study watches 2000 people having hip or knee replacement surgery to see how long spinal anaesthesia lasts. The goal is to learn how the amount of anaesthetic affects timing, helping doctors decide if patients can safely go home the same day. No new treatments are tested—just…

This study follows 1500 people who already have an implantable cardioverter-defibrillator (ICD) to prevent sudden cardiac death. Researchers will track heart function, genetics, and blood markers to find better ways to predict who is at highest risk. The goal is to improve how do…

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

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

This study looks at heart tissue samples from 216 adults who already need a biopsy as part of their care. Researchers want to find unique molecular patterns in different heart conditions, including after a heart transplant. The goal is to improve how these diseases are diagnosed …

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

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

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

This study looks at how changing the heel cushion on an ankle-foot brace (AFO) affects walking in people who use one daily. Forty adults with leg injuries or nerve problems will try four different heel wedges—tall or short, soft or firm—while walking at controlled speeds. Researc…

This study looks at how 3D computer simulation and printing can help surgeons better plan and perform bone correction surgeries. Researchers will compare the planned corrections to the actual results in 100 children and young adults with rare bone deformities. The goal is to make…

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

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

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

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

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

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

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

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

This study follows 4,000 children who receive orthopedic implants (like rods or screws) during standard care for bone fractures, deformities, or hip problems. Researchers will track how long the implants last, any complications, and how well they work over time. The goal is to ga…

This study follows 144 adults with muscle or bone problems who are already scheduled to receive treatment with Chattanooga Intelect devices (like TENS or ultrasound). Researchers will measure pain, muscle strength, and movement range to confirm the devices are safe and work as ex…

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

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

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

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

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

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

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