Familial cardiomyopathy

This trial tests an investigational medicine called ATR 1072 in adults with PRKAG2 syndrome, a genetic condition that causes abnormal heart muscle thickening and rhythm problems. The drug is designed to reduce the activity of the faulty PRKAG2 gene. Researchers are evaluating its…

This study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…

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 study tests whether gonadal tissue removed from children with disorders of sex development (DSD) can be frozen and stored to preserve fertility. The tissue is already being removed for medical reasons, such as preventing cancer. Researchers will check the tissue for viable g…

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 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 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 the long-term safety and effectiveness of an investigational drug called danicamtiv in adults with symptomatic genetic or familial dilated cardiomyopathy (DCM), a condition where the heart muscle weakens and enlarges. Participants who completed a prior 24-week st…

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 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 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 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 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 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 early-stage trial tests a single dose of a gene therapy called NVC-001 in 21 adults with a genetic form of dilated cardiomyopathy (LMNA mutation). The therapy uses a harmless virus to deliver a modified gene into heart cells, aiming to protect the heart muscle. The main goal…

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 tests whether a new radioactive dye, 68Ga-FAPI, can spot active scarring in the heart muscle using PET-MR scans. Researchers will scan about 290 people with various heart muscle conditions, such as heart failure with preserved ejection fraction, hypertrophic cardiomyop…

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 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 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 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 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 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 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 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…

Researchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…

This study follows people with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) over time to learn how the condition progresses and affects daily life. Researchers will collect health data and patient feedback to identify patterns and potential markers of the disease. The goal i…

This study follows 10 Chinese adults who have a specific gene mutation (BAG3) linked to dilated cardiomyopathy, a condition where the heart becomes enlarged and weak. Researchers will track changes in heart function, symptoms, and biomarkers over time to better understand how the…

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 follows 1,000 adults with myotonic dystrophy type 1 (DM1) over time to measure how the disease progresses. Researchers will track walking speed, hand muscle relaxation, grip strength, heart and lung function, and daily activity. The goal is to establish reliable biomar…

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 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 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 study is looking at whether advanced heart imaging, especially cardiac MRI, can help identify the cause of cardiomyopathy and predict risks like death or heart failure in a diverse group of patients. The research focuses on adults in the Bronx, including many from Hispanic a…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 …