Intrinsic cardiomyopathy

This phase 2 trial tests whether a single dose of LX2006 gene therapy can improve heart muscle thickening and damage in people with Friedreich ataxia, a genetic disorder that often leads to life-threatening cardiomyopathy. Participants aged 6 and older with confirmed heart enlarg…

This study follows 335 adults with severe eosinophilic asthma who are taking benralizumab. Researchers want to see if the drug helps patients achieve partial or complete clinical remission—meaning fewer symptoms, no need for steroid pills, and better lung function—over 12 to 24 m…

This Phase 3 trial tests the drug benralizumab (Fasenra) in children aged 6 to 17 with two rare eosinophilic diseases: EGPA and HES. The study aims to see if the drug is safe, how it works in the body, and whether it can help control the disease. Fourteen children will receive in…

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 Phase 3 study tests a drug called nucresiran in 1250 people with ATTR amyloidosis, a rare disease where abnormal proteins damage the heart. Participants receive either nucresiran or a placebo every 6 months. The goal is to see if the drug reduces deaths and heart-related hos…

This study follows 500 adults with transthyretin amyloid cardiomyopathy (ATTR-CM), a progressive heart condition caused by abnormal protein buildup. Participants take acoramidis as part of their usual care, and researchers collect data from hospitals and a European registry. The …

This study tests whether switching from tafamidis to acoramidis can raise blood levels of transthyretin (TTR) in adults with transthyretin amyloid cardiomyopathy (ATTR-CM). The drug acoramidis stabilizes TTR to prevent harmful amyloid clumps that stiffen the heart. Researchers wi…

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 a drug called depemokimab in adults with hypereosinophilic syndrome (HES), a rare condition where too many eosinophils (a type of white blood cell) cause organ damage. The trial includes 123 people whose HES is not well controlled despite standard therapy. Partic…

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-phase study tests an experimental drug called JNJ-79635322, a trispecific antibody designed to attack cancer cells in people with relapsed or refractory multiple myeloma or AL amyloidosis. About 180 participants will receive the drug to find a safe dose and check for s…

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 follows 300 adults with severe eosinophilic asthma who are prescribed benralizumab as part of their normal care in Germany. Researchers will track changes in asthma control, lung function, and medication use over one year. The goal is to see how the drug performs outsi…

This study tests a new injectable drug called depemokimab in 30 children aged 6 to 11 with asthma that involves a specific type of inflammation. The drug is given alongside their usual asthma medicines to see how the body processes it, how well it works, and if it is safe. The go…

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 phase 3 trial tests whether abatacept (Orencia) can reduce major heart complications in cancer patients who develop myocarditis (heart inflammation) from immune checkpoint inhibitors. About 390 hospitalized adults will receive either abatacept or placebo plus standard care. …

This phase 2 trial is testing whether adding rilonacept to standard therapy reduces heart muscle inflammation in people with cardiac sarcoidosis, a condition where immune cells form inflammatory clumps in the heart. About 60 adults aged 18 to 80 will receive either rilonacept plu…

This study tests an experimental drug called NNC6019-0001 in people with transthyretin amyloid cardiomyopathy (ATTR-CM), a condition where abnormal proteins build up in the heart. About 1,280 adults will receive either the drug or a placebo by IV, alongside their usual heart trea…

This study tests a drug called elranatamab in people with AL amyloidosis that has come back or not responded to prior treatment. The goal is to find a safe dose and see if the drug can reduce abnormal protein levels. About 49 adults will take part in this early-phase trial.

This study tests whether adding dupilumab to standard treatment can help people with hypereosinophilic syndrome (HES) who still have symptoms despite current biologic therapy. About 30 adults will receive dupilumab injections for up to 48 weeks while continuing their usual medica…

This study tests a drug called belantamab mafodotin in people with a rare blood disease called AL amyloidosis that has come back or not responded to other treatments. The goal is to find the safest and most effective dose. The study has two parts: first, different doses are teste…

This study gives ongoing access to benralizumab (Fasenra) for people with asthma, eosinophilic granulomatosis with polyangiitis (EGPA), or hypereosinophilic syndrome (HES) who completed a prior benralizumab trial and still benefit from the drug. About 230 participants will receiv…

This study tests an experimental drug called linvoseltamab in 220 people with AL amyloidosis that has returned or not improved after prior therapy. The drug aims to reduce abnormal proteins that damage organs like the heart and kidneys. The trial first finds the safest dose, then…

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 an oral drug called KT-621 in 264 adults with moderate to severe eosinophilic asthma that is not well controlled by current treatments. Participants will take either KT-621 or a placebo daily for several weeks. Researchers will measure changes in lung function an…

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 study tests whether bromocriptine, a drug that stops breastfeeding, can improve heart function in women newly diagnosed with peripartum cardiomyopathy (a type of heart failure after childbirth). 200 women will receive either bromocriptine or a placebo, plus standard heart fa…

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 whether combining two drugs, teclistamab and daratumumab, can help people newly diagnosed with both multiple myeloma and light chain amyloidosis. About 30 adults will receive the treatment for up to 24 cycles. The goal is to see if the combo improves survival wit…

This study tests the drug acoramidis in people with transthyretin amyloid cardiomyopathy (ATTR-CM), a condition where abnormal proteins build up in the heart, weakening it. Over 36 months, researchers measure whether acoramidis improves heart function and structure using cardiac …

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 phase 2 trial tests a drug called sonrotoclax, combined with dexamethasone and sometimes daratumumab, in 39 people with a specific genetic form of AL amyloidosis (t(11;14)). The goal is to see if the treatment can quickly reduce harmful protein levels and improve organ funct…

This phase 2 trial is testing a drug called CM336 in 21 people newly diagnosed with AL amyloidosis, a rare disease where abnormal proteins build up in organs. CM336 is a bispecific antibody that helps the immune system target and destroy the cells making these proteins. The study…

This early-phase trial is testing a new treatment called GC012F for people with AL amyloidosis that has come back or not responded to other therapies. GC012F is a type of immunotherapy that uses a patient's own immune cells, modified to attack two specific targets on the abnormal…

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 Phase 2 trial tests a new drug, belantamab mafodotin, combined with standard chemotherapy in 60 adults newly diagnosed with AL amyloidosis, a rare disease where abnormal proteins damage organs. The goal is to see if the combination improves blood and organ responses. The stu…

This early-stage trial tested a new cell therapy called CAR-DC in 8 people with end-stage dilated cardiomyopathy, a condition that weakens the heart. The therapy targets a protein called FAP to calm the immune system and improve heart function. The main goal was to check safety, …

This study tests whether two drugs, teclistamab and daratumumab, can safely and effectively treat AL amyloidosis, a rare disease where abnormal proteins damage organs. The treatment lasts about 6 months. Researchers will check if the drugs can make the abnormal proteins disappear…

This Phase 3 trial compares a low-dose combination of prednisone and methotrexate to standard high-dose prednisone for people with active cardiac sarcoidosis. Researchers hope the combo works just as well but causes fewer side effects and improves quality of life. The study plans…

This trial investigates whether empagliflozin, a drug originally used for diabetes, can help children with heart failure. About 60 children aged 1 month to 18 years with confirmed heart failure will receive either standard care plus empagliflozin or standard care alone for 90 day…

This study tests a personalized approach for people with AL amyloidosis who have a specific genetic change called t(11;14). All 41 participants start with a standard three-drug combination. If their blood responds quickly within a week, they continue that treatment; if not, they …

This observational study follows up to 2,000 adults with ATTR-CM, a serious heart condition, who are starting treatment with acoramidis as part of their normal care. Researchers will track patient characteristics, how the drug is used, and its effects on heart function and qualit…

This study tests a new treatment called AZD0120 for people with AL amyloidosis, a rare disease where abnormal proteins build up in organs. The therapy uses a patient's own immune cells, modified to target and destroy harmful cells. The study aims to see if it is safe and effectiv…

This early study tests whether a second infusion of a patient's own modified immune cells (CAR-DC) is safe and can improve heart function in 5 adults with end-stage dilated cardiomyopathy. Participants had already received one dose but saw their heart function worsen again. The g…

This early-stage trial tests a new cell therapy for people with heart failure caused by blocked arteries. The treatment uses the patient's own immune cells, engineered to target scar tissue in the heart. The study will check safety and whether it can improve heart function in 15 …

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 2 trial tests whether dapagliflozin, a diabetes drug, is safe and can lower high urine protein levels in people with renal AL amyloidosis—a rare condition where abnormal proteins damage the kidneys. About 20 participants will take the drug daily for 6 months and be mon…

This early-stage trial tests whether infusions of stem cells from donated newborn tissue are safe for young people aged 4 to 39 with dilated cardiomyopathy, a condition where the heart becomes enlarged and weak. Up to 36 participants will receive three intravenous doses over 30 d…

This study is testing a drug called mavacamten in adults with a type of heart disease called obstructive hypertrophic cardiomyopathy (HOCM) in Japan. The goal is to see if mavacamten can improve heart function and symptoms when added to their current treatment. About 36 participa…

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 whether Enavogliflozin, a drug used for diabetes, can help people with amyloid cardiomyopathy, a condition where abnormal proteins build up in the heart. About 68 adults with heart failure symptoms will take the drug or a placebo for 12 weeks, then switch. The ma…

This study looks at how well the drug mavacamten works for Chinese adults with obstructive hypertrophic cardiomyopathy, a condition where the heart muscle is too thick. About 500 people will be followed in regular clinic settings. The main goal is to see if the drug improves bloo…

This study tests whether daily weight monitoring at home can reduce hospitalizations for heart failure in people with cardiac amyloidosis, a condition where protein buildup stiffens the heart. 320 adults with ATTR cardiomyopathy will either use a connected scale that alerts docto…

This study is testing whether an implantable defibrillator (ICD) helps people with a certain type of heart failure (non-ischemic cardiomyopathy) live longer. About 2,500 participants will be randomly assigned to receive an ICD or not, and their survival will be tracked for up to …

This early-phase trial is testing a new type of gene therapy called CAR 70-BCMA dual-target CAR-T for people with relapsed or refractory plasma cell neoplasms, including multiple myeloma. The therapy involves taking a patient's own immune cells, re-engineering them to recognize a…

This early-phase trial tests a personalized cell therapy called BCMA-targeted CAR-T cells in 30 adults with relapsed or refractory light chain amyloidosis, a rare disease where abnormal proteins build up in organs. The treatment uses the patient's own immune cells, modified to at…

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 whether a carefully controlled high-fat diet can improve heart function in people with a specific type of heart failure (non-ischemic dilated cardiomyopathy). Researchers believe that switching the heart's fuel source back to fats may help it pump more effectivel…

This study looks at whether the heart medication Camzyos (Mavacamten) can improve blood flow to the heart muscle in people with hypertrophic obstructive cardiomyopathy (HOCM). Researchers will use special PET-CT scans to measure blood flow before and after 12 months of treatment.…

This study looks at whether people with a type of heart disease called obstructive hypertrophic cardiomyopathy can safely switch from one medication (mavacamten) to another (aficamten). The goal is to keep the heart working better and reduce symptoms. About 40 adults who are alre…

This study tests whether adding empagliflozin (a diabetes drug) to standard carvedilol treatment can prevent liver decompensation events and death in 400 adults with cirrhosis and left ventricular diastolic dysfunction (stiff heart). Participants will receive either empagliflozin…

This phase 3 trial is testing whether adding benralizumab (an injectable drug) to medium-dose inhalers can reduce asthma attacks in people with eosinophilic asthma whose symptoms are not well controlled. About 400 participants aged 12 to 75 will be randomly assigned to receive be…

This study tests an experimental drug called etentamig (ABBV-383) in adults with AL amyloidosis, a rare disease where abnormal proteins build up in organs. About 76 participants will receive the drug by infusion to see if it is safe and can control the disease. The trial has two …

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 a new drug called TQB2934 for people with systemic light chain amyloidosis, a rare disease where abnormal proteins damage organs. The drug is a bispecific antibody that helps the immune system target and destroy harmful cells. The trial will enroll 70 adults who …

This phase 3 trial tests whether adding a stem cell transplant to standard chemotherapy helps people with newly diagnosed AL amyloidosis. About 338 participants will receive either chemo alone or chemo followed by a stem cell transplant. The goal is to see which approach better d…

This study tests a gene therapy called RP-A501 in 14 males with Danon disease, a rare genetic condition that causes heart problems. The treatment uses a harmless virus to deliver a working copy of the LAMP2 gene, aiming to improve heart muscle function and reduce thickening. Part…

This study tests whether a three-drug combination (SGLT2 inhibitor, ARNI, and MRA) can improve heart structure, function, and symptoms in 50 people with advanced HFpEF, a type of heart failure where the heart is stiff but pumps normally. Participants will receive either the tripl…

This study compares two approaches for people with ischemic cardiomyopathy (weak heart muscle due to blocked arteries) and multiple blocked vessels. One group gets optimal medical therapy alone, while the other also gets a heart artery procedure (PCI) guided by imaging and pressu…

This study tests whether colchicine, a common anti-inflammatory drug, can help people with chronic heart muscle inflammation (inflammatory cardiomyopathy). About 80 adults with this condition will receive either colchicine or a placebo to see if it prevents worsening heart failur…

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 early study tests a drug called coramitug in 14 people with ATTR-CM, a heart condition caused by abnormal protein buildup. The drug is designed to bind to and help remove these protein clumps from the heart. Researchers will use special scans to see where the drug goes and w…

This study tests an experimental drug called SIM0718 for people with asthma that is not well controlled by current inhalers. About 418 adults and teens aged 12 to 75 will receive either the drug or a placebo for one year. The main goal is to see if the drug reduces the number of …

This phase II trial at Mayo Clinic is testing whether longer maintenance therapy with daratumumab can improve survival for people with AL amyloidosis. About 96 adults who have already responded to initial daratumumab treatment will be randomly assigned to shorter or longer mainte…

This early-stage trial tests a gene therapy called AAVrh.10hFXN for heart problems caused by Friedreich's ataxia, a rare genetic disease. The therapy delivers a working copy of the frataxin gene to help heart cells function better. 25 people aged 12 to 50 with heart involvement w…

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 whether injecting donor stem cells (from healthy volunteers) can safely improve heart function in people with a weakened heart muscle not caused by blocked arteries. About 136 adults aged 18-80 with low pumping ability will receive either stem cells or a placebo.…

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 medicine called ademetionine in 44 adults with a heart condition that blocks blood flow. Participants will take either the medicine or a placebo for 16 weeks. Researchers will check if it helps with exercise, symptoms, and heart function.

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 drug called tideglusib in 120 people with a genetic heart condition that can cause dangerous heart rhythms. The drug aims to reduce abnormal heartbeats and improve heart function. Participants will take either tideglusib or a placebo daily for about a year to s…

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 Phase 3 trial tests whether colchicine, an anti-inflammatory drug, can reduce heart scarring and prevent complications in 300 people with acute myocarditis (heart inflammation). Participants receive colchicine or a placebo for six months alongside standard care. The goal is …

This clinical trial is testing whether a 3-week course of ibuprofen can reduce heart scarring better than standard acetaminophen in people hospitalized with acute myocarditis (heart muscle inflammation). The study will enroll 150 adults with mild cases (normal heart pumping funct…

This early study tests whether sotagliflozin, a drug already used for heart failure, can help people with a type of hypertrophic cardiomyopathy that doesn't block blood flow. Twenty-six adults will take the drug or a placebo for 12 weeks, then switch, to see if it improves exerci…

This phase 2 trial tests whether spironolactone, a potassium-sparing diuretic, can slow the deterioration of the right ventricle and reduce arrhythmias in people with arrhythmogenic right ventricular dysplasia (ARVD). About 120 participants will receive either spironolactone or a…

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 phase 3 trial tests whether adding the experimental drug SCTC21C to standard chemotherapy (bortezomib, cyclophosphamide, dexamethasone) works better than chemo alone for people newly diagnosed with AL amyloidosis. The study will enroll 90 participants and measure how well th…

This study monitors the real-world safety and effectiveness of mavacamten in about 200 people in Japan who have obstructive hypertrophic cardiomyopathy, a condition where the heart muscle thickens and blocks blood flow. Participants will be followed to track any side effects and …

This study compares a new pacing method (left bundle branch pacing) with a standard pacemaker-defibrillator in 30 people who have hypertrophic cardiomyopathy and a specific heart block after myectomy surgery. The goal is to see if the new method better prevents heart failure wors…

This pilot trial tests whether a patient's own stem cells can help the heart muscle recover in people with advanced chronic heart failure who already have a mechanical heart pump (LVAD). Ten patients will receive their own CD34+ stem cells injected into a heart artery. Researcher…

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 tests whether injecting stem cells from umbilical cords into the heart during bypass surgery can help repair heart muscle and improve function in people with chronic heart failure. About 51 adults with weak hearts (ejection fraction 40% or less) will take part. The goa…

This study tests a medication called acoramidis in 200 people with a rare heart condition called transthyretin cardiac amyloidosis. The goal is to see if the drug can slow down the disease and prevent worsening of heart function. Participants either are newly diagnosed or switch …

This study tests a special pacing technique called high-intensity his bundle pacing in 34 adults with heart failure and a narrow QRS pattern on their ECG. Standard pacing doesn't help these patients, but this new approach may improve heart function and quality of life. Participan…

This study tests a new procedure that uses radiofrequency energy to reduce thickened heart muscle in people with obstructive hypertrophic cardiomyopathy. About 124 adults with symptoms like chest pain or shortness of breath will be randomly assigned to receive the active procedur…

This study tests an experimental drug called CM336 in 90 adults whose primary light-chain amyloidosis has come back or not responded to prior treatments. The drug is designed to help the immune system attack the abnormal cells causing the disease. The main goal is to see how many…

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 study is checking the long-term safety of a drug called HRS-1893 in 300 people with hypertrophic cardiomyopathy, a condition where the heart muscle thickens. Participants have already taken HRS-1893 in earlier studies. The main goal is to see how many side effects occur and …

This study tests whether a newer pacing method called left bundle branch pacing (LBBP) works better than the standard biventricular pacing for people with chronic heart failure and reduced pumping ability. About 60 adults with heart failure and a specific electrical delay in the …

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 a special radioactive tracer called [68Ga]Ga-FAPI-46 for PET scans in 40 people with transthyretin cardiac amyloidosis (ATTR-CM), a condition where abnormal proteins build up in the heart. The goal is to see if this scan can measure scar-like activity in the hear…

This study is testing a new imaging agent called [18F]FT8 to see if it can help doctors better see and diagnose amyloidosis, a disease where abnormal proteins build up in organs like the heart. The study will involve 20 patients with amyloidosis and 5 healthy volunteers. Research…

This study tests whether a newer type of CT scan, called photon-counting CT, can accurately measure blood flow to the heart muscle and detect scarring or fibrosis. Researchers will compare the CT results with cardiac MRI and invasive coronary angiography in 100 patients with aort…

This study explores whether specialized eye imaging can identify people with a rare heart condition called transthyretin amyloid cardiomyopathy (ATTR-CM). Researchers will use machine learning to analyze eye scans from 500 adults—some with ATTR-CM and others with heart failure bu…

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 tests whether a quantitative analysis of bone scintigraphy (SUVmax) can better track amyloid burden in the hearts of patients with transthyretin cardiac amyloidosis who are being treated with tafamidis. The current Perugini score is limited in assessing disease severit…

This study tests whether a radioactive tracer called Florbetaben F18 can reliably detect amyloid deposits in the heart using PET scans. Researchers will scan 15 people with and without cardiac amyloidosis twice to see if the results are consistent. The goal is to improve diagnosi…

This Phase 1 trial is testing a new radioactive tracer called 99mTc-p5+14 to see how it spreads through the body and how much radiation it delivers. The study includes healthy volunteers and people with AL or ATTR systemic amyloidosis, a condition where abnormal protein deposits …

This study is testing a cloud-based AI platform called Willem that analyzes electrocardiogram (ECG) data to detect Transthyretin cardiac amyloidosis (ATTR-CA), a rare and serious heart condition. Researchers will compare ECGs from 2000 adults—some with confirmed ATTR-CA and some …

This phase 2 study tests a new radioactive imaging agent, 18F-mFBG, to measure nerve damage in the hearts of 20 people with stable heart failure and implantable defibrillators (ICDs). The goal is to see if the agent can reveal differences in nerve function between those who have …

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 is testing whether a special PET/CT scan using a tracer called PentixaFor can accurately detect acute inflammation in the heart. It focuses on three conditions: heart transplant rejection, cardiac sarcoidosis, and myocarditis caused by cancer drugs. Researchers will en…

This study explores whether a quick, painless cheek swab can spot protein changes linked to inherited heart conditions that cause sudden cardiac death in young people. Researchers will collect samples from 26 patients with arrhythmic disorders or family members at risk. If the te…

This study looks at whether a special PET scan can find early signs of scarring in the heart muscle of people with ARVC, a rare inherited heart disease that can lead to dangerous heart rhythms. Fifteen adults with ARVC will get this scan along with standard tests. Researchers hop…

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 a radioactive imaging agent called Iodine-124 evuzumitide (AT-01) in 150 people with systemic amyloidosis. The goal is to see how well it detects amyloid deposits in the heart and other organs using PET/MRI or PET/CT scans. If accurate, it could become a new tool…

This study tests whether a new MRI contrast agent called Elucirem can detect heart scarring as effectively as the standard agent, but at a much lower dose. Researchers will compare images from 25 adults who previously had a heart MRI with the standard agent. If Elucirem works wel…

This study is testing whether a radioactive tracer called Tc 99m tilmanocept, already used in other imaging, can help detect cardiac sarcoidosis—a condition where inflammation forms in the heart. Researchers will give the tracer to 15 adults with confirmed sarcoidosis and take sp…

This study tests a new radioactive dye called 68Ga-NI-FAPI for PET/CT scans. It aims to better detect diseases like tumors, heart problems, and lung scarring by targeting a protein linked to tissue damage. About 30 people, including healthy volunteers and patients, will take part…

This study tests a special PET/CT scan that uses a tracer called FAPI-74 to find fibrosis (scar-like tissue) in the body. It includes 45 adults with conditions like head and neck cancer or tuberculosis that can cause fibrosis. The goal is to see how well the scan shows fibrosis, …

This study explores a new blood test that looks for DNA fragments from damaged heart cells to detect active heart inflammation in people with sarcoidosis. Researchers will compare results from 120 participants, including healthy volunteers and those with known heart conditions. I…

This study tests whether a drug called sotagliflozin, combined with a short ketogenic diet, can help suppress normal sugar use by the heart. This would make PET scans clearer for detecting inflammation caused by cardiac sarcoidosis. Forty healthy volunteers will take the drug for…

This study at Mayo Clinic is testing whether a special MRI technique called magnetic resonance elastography (MRE) can measure stiffness in the hearts of people with cardiac amyloidosis, a condition where abnormal proteins build up and stiffen the heart. Researchers will enroll 20…

This study uses artificial intelligence to analyze standard electrocardiograms (ECGs) to accurately diagnose hypertrophic cardiomyopathy (HCM), a condition where the heart muscle thickens. The AI will also help tell HCM apart from other diseases that look similar, like high blood…

This study tests new, faster MRI techniques to get detailed images of the heart muscle in people with heart conditions like cardiomyopathy, myocarditis, and ischemic heart disease. The goal is to improve diagnosis and treatment planning. About 240 adults who already need a heart …

This phase 3 trial tests whether acoramidis can prevent or delay transthyretin amyloidosis (ATTR) in 587 adults who carry a faulty gene but have no symptoms yet. ATTR causes sticky plaques to build up in the heart and nerves, leading to heart failure and nerve damage. Acoramidis …

This study tests whether the blood thinner rivaroxaban can prevent strokes, heart attacks, and death in people with hypertrophic cardiomyopathy (HCM) who have early signs of atrial damage but normal heart rhythm. About 532 adults aged 40-80 with HCM and reduced left atrial strain…

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 looks at whether giving children with hypertrophic cardiomyopathy (a condition where the heart muscle is thicker than normal) a personalized exercise plan is safe and helpful. Ten children aged 10 to 18 will receive an exercise prescription from a physiotherapist and b…

This study tests a drug called ninerafaxstat in people with a type of heart muscle disease that makes the heart stiff and causes symptoms like shortness of breath and fatigue. The trial involves 165 participants who will receive either the drug or a placebo. The main goal is to s…

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 study looks at whether adding a structured exercise program is safe and helpful for people with hypertrophic obstructive cardiomyopathy who are already taking the drug mavacamten. About 24 adults with mild symptoms will either do supervised endurance and strength training fo…

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 24 weeks of moderate exercise (three 60-minute sessions per week) can improve symptoms and heart function in people with hypertrophic cardiomyopathy, a condition where the heart muscle is thickened. About 70 participants will be randomly assigned to eithe…

This study tests whether giving the drug daratumumab as a shot in the upper thigh works as well as the usual shot in the abdomen for people with plasma cell disorders like multiple myeloma. The goal is to find a less painful or more accessible injection spot. About 30 adults 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 looks at 50 adults with AL amyloidosis who achieved complete remission after initial chemotherapy. It checks if tiny amounts of remaining disease (called minimal residual disease, or MRD) affect organ recovery and survival. Researchers also test whether a stem cell tra…

This study follows about 50 members of a family with a rare inherited condition called familial hypereosinophilia, where high levels of a type of white blood cell can damage the heart and nerves. Researchers will track participants over many years with yearly checkups, blood test…

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 aims to understand how and why eosinophils (a type of white blood cell) become active in conditions like allergies, asthma, and parasitic infections. Researchers will observe up to 800 people aged 1 to 100 with high eosinophil levels. No experimental treatments are giv…

Researchers are following 3,000 Chinese adults with hypertrophic cardiomyopathy, a condition that thickens the heart muscle and can disrupt blood flow. The study records how patients are treated in everyday hospitals and tracks health events such as stroke, heart failure hospital…

This observational study monitors the long-term safety of eplontersen, a treatment for transthyretin amyloidosis, in patients who have had a liver transplant or have severe liver impairment. Researchers will track side effects, lab changes, and serious health events in about 320 …

This study will look at 40 people with both hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF) to understand why AF is more common and harder to treat in HCM. Researchers will measure electrical signals in the heart and use advanced imaging. The goal is to find clues …

Immune checkpoint inhibitors help the body's immune system fight cancer, but in some patients they trigger dangerous heart inflammation and other cardiovascular problems. Researchers are combing through the World Health Organization's global drug safety database, two French natio…

This study will observe 253 adults with heart rhythm problems who are scheduled for procedures like pacemakers or ablation. Researchers will use advanced imaging and AI tools to understand why some patients respond well to treatment while others do not. The goal is to find better…

This study will follow about 2000 adults with a heart condition called ATTR-CM, where abnormal proteins build up and weaken the heart. Researchers want to see how patients do on a drug called vutrisiran in everyday medical care, not just in a controlled trial. They will measure s…

This observational study will analyze medical records from over 52,000 people with ATTR amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers want to learn about patients' symptoms, treatments, and outcomes in everyday medical practice. No new treatm…

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 tests whether a special ultrasound treatment, combined with a contrast agent, can improve blood flow and heart function in people with cardiac amyloidosis. Researchers will measure changes using PET scans and echocardiograms. The trial includes 70 participants with and…

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 follow about 1,850 people with ATTR amyloidosis, a rare disease that affects the heart and nerves. Researchers will collect information on patients' health, treatments, and outcomes over time to better understand the disease and how current therapies work in every…

This study is a large registry that will follow about 1,700 people with obstructive hypertrophic cardiomyopathy in the US and Europe. Researchers will track how patients respond to mavacamten or other standard treatments in real-world settings, focusing on safety and effectivenes…

This observational study looks at how the heart recovers in people with severe heart failure who are supported by the Impella 5.5, a temporary heart pump, while waiting for a transplant. Researchers will track changes in heart function and size, as well as blood and tissue marker…

This study will collect blood samples from 115 adults with cardiac sarcoidosis to look for tiny particles called exosomes that might show whether the disease is active or quiet. The goal is to develop a simple blood test that could help doctors monitor the condition without needi…

This study looks at whether liver function and blood clotting tests can help doctors better understand and monitor cardiac transthyretin amyloidosis (ATTR-CA), a condition where abnormal protein builds up in the heart. Researchers will compare these tests in people with ATTR-CA a…

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 investigates whether people who had carpal tunnel surgery might have a higher chance of having ATTR amyloidosis, a condition where abnormal proteins build up in tissues, potentially affecting the heart. Researchers will biopsy tissue from about 180 patients who had car…

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 will test new MRI methods to find early signs of heart disease in 1000 adults. Researchers want to see if these scans can detect tiny changes in heart muscle before standard tests do. Participants will have MRI scans and blood work, but no treatment is given. The goal …

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 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 looks at a heart condition called cirrhotic cardiomyopathy that can affect people with advanced liver disease (cirrhosis). Researchers want to learn how common it is, what increases the risk, and whether bile acids in the blood play a role. About 440 adults with decomp…

This study follows 400 people in Norway with multiple myeloma, plasma cell leukemia, or AL amyloidosis who are receiving newer immunotherapies like teclistamab, elranatamab, or CAR-T cell therapy outside of clinical trials. Researchers will track how well these treatments control…

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 is a national registry in Hungary that collects medical information from people diagnosed with systemic amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will look at patient records to understand how the disease starts, how it is diag…

This study is testing a special PET scan that uses a tracer called 68Ga-FAPI to look for inflammation and scarring in the hearts of people with a specific type of heart failure (HFpEF). About 35 adults with this condition will get the scan to see how well it works. The goal is to…

This registry tracks 2,000 adults with congenital heart disease who are on the waiting list for a heart or heart-lung transplant. The goal is to understand why some patients get worse or die while waiting, while others improve enough to be removed from the list. By collecting dat…

This study tests a new PET scan technique to better track heart damage in people with a condition called ATTR-CM, a progressive heart muscle disease. Researchers will scan 140 participants to see if the imaging can show how well treatments are working. The goal is to improve moni…

This study is tracking 1,500 people with cardiac sarcoidosis—a condition where inflammation affects the heart—to learn how doctors currently diagnose and treat it. Researchers will also test whether corticosteroid therapy improves outcomes. The goal is to create better guidelines…

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 is testing how to safely perform skin allergy tests in people receiving biotherapies for cancers and blood disorders. Researchers will find the highest concentration of each biotherapy that does not cause a skin reaction in 9 out of 10 patients. The goal is to establis…

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…

ATROPOS is an international study collecting data from 1,500 cancer patients who developed heart inflammation (myocarditis) after receiving immune checkpoint inhibitors. Researchers will analyze how different immunosuppressive treatments, such as steroids, affect survival rates a…

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 aims to learn how well heart scans (MRI, ultrasound, PET) can detect and predict outcomes in people with suspected or known inflammatory heart diseases. Researchers will follow 5,000 adults for one year to see how often heart involvement is confirmed and how it affects…

This early-stage trial is studying how the drug dobutamine affects the heart in 15 people with a rare condition called wild-type transthyretin amyloid cardiomyopathy (ATTRwt). Participants will receive increasing doses of dobutamine while doctors measure heart function using ultr…

This study looks at whether inflammation inside the heart contributes to arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare heart condition. Researchers will measure inflammatory markers in blood and heart tissue from 80 participants, including people with ARVC and he…

This study is examining heart valve tissue from 100 people undergoing surgery for aortic stenosis to see how often ATTR amyloid deposits are present. Researchers will use mass spectrometry to identify the type of amyloid. The goal is to better understand the link between amyloido…

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 a worldwide registry that follows 5,000 adults with breast cancer, blood cancers, or those on immune checkpoint inhibitors. Researchers collect medical records, lab results, and imaging to identify who is at risk for heart problems during or after cancer treatment. …

This study is building a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, and Marfan syndrome. Researchers will collect DNA samples and medical information to discover which genes are most commonly affected and how often the…

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 looks at a specific gene (IGLV1-44) to understand why it causes two different diseases: AL amyloidosis and POEMS syndrome. Researchers will analyze blood and bone marrow samples from 100 adults with these conditions or multiple myeloma. The goal is to find genetic patt…

This study is a national registry in the UK that collects health information from 2500 people with hypertrophic cardiomyopathy (HCM), a common inherited heart condition. Researchers will gather data from medical records, heart scans, blood tests, and genetics to better understand…

This study is looking for genetic clues that might explain why a very small number of people develop rare side effects like Guillain-Barré syndrome, blood clots with low platelets, or heart inflammation after a COVID-19 vaccine. Researchers will compare the DNA of people who had …

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 is following about 362 adults with a type of heart disease called obstructive hypertrophic cardiomyopathy who are taking the drug mavacamten. Researchers want to see how the drug works in real doctor's offices, not just in strict research settings. They will track thin…

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 is looking at 80 people with a genetic heart condition called arrhythmogenic cardiomyopathy, which can cause sudden cardiac death. Researchers will use a special PET-MRI scan to see if there is inflammation in the heart muscle, which is hard to detect with standard tes…

This study is building a large registry of 5,000 people with AL amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will collect real-world data on how the disease progresses and how current treatments affect it. No new drug is being tested; the go…

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 is creating a large European registry of 400 newly diagnosed AL amyloidosis patients. Researchers will collect medical data and blood samples to study the disease using advanced technology. The goal is to better understand how AL amyloidosis develops and progresses, wh…

This study is creating a network of hospitals in Italy to find and treat AL amyloidosis earlier. Researchers will screen people with certain blood conditions (MGUS or smoldering myeloma) using special tests. The goal is to speed up diagnosis, connect patients to the right care, a…

This study follows 200 adults with ATTRwt amyloidosis who are taking tafamidis to see how often they develop heart rhythm problems that need a pacemaker or defibrillator. Researchers will also track changes in diuretic use. Participants are checked every six months as part of rou…

This study aims to create a tool that uses stress heart MRI and routine medical data to predict which patients with dilated cardiomyopathy (a weakened, enlarged heart) are at highest risk for serious problems like heart failure or sudden cardiac death. Researchers will follow 2,0…

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 looks at how different types and intensities of exercise affect heart rhythm in people with arrhythmogenic right ventricular cardiomyopathy (ARVC). Researchers will measure extra heartbeats and heart workload during activities like walking or biking. The goal is to cre…

This study is creating a database of up to 5,000 people in Ohio with plasma cell disorders like multiple myeloma and amyloidosis. Researchers will track treatments, outcomes, and quality of life, while also offering patients access to expert consultations and information about su…

This study is testing whether a non-invasive blood pressure monitor can accurately detect blockages in the heart's main pumping chamber in people with hypertrophic cardiomyopathy (HCM). Researchers will compare blood pressure readings with standard invasive measurements in 800 ad…

This study follows up on people with hypertrophic cardiomyopathy (HCM), a genetic condition that thickens the heart muscle. Researchers want to see how scarring in the heart (called late gadolinium enhancement, or LGE) changes over at least 7 years and whether it predicts serious…

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 uses magnetic resonance spectroscopy, a special MRI technique, to measure the heart's energy levels without needles or biopsies. Researchers will compare healthy volunteers, people with heart failure, and those with other heart conditions to see if low energy metabolis…

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 looks at whether a rapid drop in a blood marker called dFLC can predict a complete response in people with AL amyloidosis treated with daratumumab-based therapy. Researchers will follow 50 patients to see if early changes in dFLC levels match up with later treatment su…

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 investigates how a sugar modification called N-glycosylation affects AL amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will analyze blood and bone marrow samples from 100 adults with related conditions to better understand the disea…

This study is creating a biobank and data registry for people with amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will collect blood, urine, tissue samples, and medical information from 505 participants over time. The goal is to store these ma…

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 looks at the gut microbiome (the bacteria living in the digestive system) of people with POEMS syndrome, multiple myeloma, MGUS, AL amyloidosis, and healthy household members. Participants provide stool samples at home using a collection kit. The goal is to understand …

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 is collecting information from 600 people with chronically high levels of eosinophils (a type of white blood cell) or related organ damage. Researchers want to describe the different symptoms, disease patterns, and genetic factors involved. The goal is to better unders…

This study looks back at medical records of 100 children with a genetic condition called RASopathy that causes severe heart thickening and heart failure. Researchers want to collect detailed information on how the disease progressed in the past. This will help design future studi…

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 uses advanced heart MRI scans to look at blood flow patterns in people with different types of hypertrophic cardiomyopathy (thick heart muscle), including rare forms like Anderson-Fabry disease and cardiac amyloidosis. Researchers will also study first-degree relatives…

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 early-phase study tests a new MRI method that uses a special injection called hyperpolarized pyruvate to see how the heart uses energy. Researchers will scan the hearts of up to 112 people with high blood pressure, heart thickening, or heart failure. The goal is to see if th…

This study looks at people who developed heart inflammation (myocarditis or pericarditis) after getting a COVID-19 vaccine. Researchers will review medical records and follow up with 400 participants for up to 4 years to understand long-term health effects. The goal is to learn m…

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 observational study uses 3D echocardiography to compare heart shape, blood flow, and function between 80 endurance athletes and 80 sedentary people. Researchers aim to understand how long-term exercise remodels the heart's structure and improves its performance. Participants…

This study is looking at 400 people with weak hearts who are getting an implantable defibrillator (ICD) to prevent sudden cardiac death. Researchers want to see if detailed heart MRI scans can find structural problems that better predict who will actually have a dangerous heart r…

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 looks at fat tissue surrounding the heart arteries in 60 patients who had a heart transplant. Researchers want to see if the size of fat cells close to the artery differs from those farther away, and if that relates to artery disease. The goal is to better understand h…

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 will use cardiac MRI scans to measure heart tissue in 2000 people with various heart conditions, such as heart attacks, cardiomyopathies, and myocarditis. The goal is to create a reference map of normal and abnormal tissue values, which may help doctors diagnose diseas…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

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 tracking 50 adults with a heart condition called ATTR-CM to see if medications like tafamidis or acoramidis lower harmful amyloid proteins in the blood over time. Researchers will take blood samples at several visits to measure these proteins. The goal is to find ou…

This study is testing whether a detailed heart MRI (called T1 mapping) can better predict who will develop heart disease, heart failure, or long COVID complications. Researchers will scan 6000 adults without known heart disease and follow them over time. The goal is to see if sub…

This study looks at whether tiny particles released by cells into the blood, called extracellular vesicles, can help detect a type of heart disease called ATTR amyloidosis earlier. The disease often goes unnoticed until serious damage occurs. Researchers will compare these partic…

This pilot study is testing a new type of PET/CT scan that uses a radioactive tracer called 68Ga-FAPI to detect active scarring (fibrosis) in the hearts of 30 people with heart failure. The goal is to see if this scan can spot early or ongoing scarring better than current MRI met…

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 how problems in the heart's tiny blood vessels (coronary microvascular dysfunction) affect long-term outcomes in people with dilated cardiomyopathy, a condition where the heart muscle is enlarged and weak. Researchers will follow 330 participants who have alre…

This study compares two ways to manage fluids in cirrhosis patients with severe sepsis or septic shock. One method uses a bedside heart ultrasound (POCUS) to guide fluid amounts, while the other follows standard sepsis guidelines. The goal is to see if ultrasound-guided care redu…

This study is looking at whether certain antibodies in the blood can help predict which patients with acute viral myocarditis (heart inflammation caused by a virus) will go on to develop dilated cardiomyopathy (a weakened, enlarged heart). Researchers will measure two specific an…

This study looks at why about one-third of people with a heart condition called cardiac amyloidosis continue to get worse even with medication. Researchers will use special heart scans (ultrasound, MRI, and PET) at the start and after one year to see what is happening inside the …

This study collects medical data from 60 adults diagnosed with either EGPA or HES, two rare conditions that cause high levels of a type of white blood cell. Researchers will use artificial intelligence to find patterns that help doctors tell the diseases apart and predict how pat…

This study creates a registry of 5,000 adults aged 50 and older with blood cancers like multiple myeloma and lymphoma. Researchers will track frailty, muscle loss, and other age-related health issues to better understand this group's needs. The goal is to gather information that …

This study is a registry that will collect health information from 1000 people with hypertrophic cardiomyopathy (HCM) across Austria. Researchers will track symptoms, medical history, test results, and genetics to better understand the disease and improve future care. Participant…

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 aims to find genetic differences that make some cancer patients more likely to develop a rare but life-threatening heart inflammation (myocarditis) from immune checkpoint inhibitors. Researchers will compare the DNA of 100 patients who had this side effect with 400 who…

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 is for people with light chain amyloidosis, a rare disease where abnormal proteins build up in the heart and other organs. Researchers will use special PET and MRI scans to take detailed pictures of these protein deposits in the heart. The goal is to better understand …

This study is creating a large collection of blood samples, tissue, and health information from 2,500 people with plasma cell disorders like multiple myeloma. Researchers will use this repository to better understand how the disease develops and changes over time. No new treatmen…

This observational study is looking at the safety of the heart medication mavacamten when taken during pregnancy or while breastfeeding. Researchers will follow about 20 people who have taken at least one dose of mavacamten during pregnancy or breastfeeding, tracking outcomes for…

This observational study tests a new device (eMyosound LYRA) that uses sound waves to measure stiffness in the heart and liver. Researchers will compare 150 people—some with heart failure, some with a rare heart condition called ATTR-CM, and some healthy volunteers. The goal is t…

This study is for adults with a weak heart muscle and a leaky mitral valve (functional mitral regurgitation). Researchers will use advanced MRI scans to better predict which treatments—medication or a minimally invasive valve repair—will work best for each person. The goal is to …

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 looks at 1,600 people who recently had a heart attack to see if a common blood test (the neutrophil-to-lymphocyte ratio, or NLR) can help predict who is at higher risk of dying or having another heart problem within 6 months. Researchers will measure NLR from blood sam…

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 looks at 20 people with hypertrophic obstructive cardiomyopathy who are already on optimal medical therapy. Researchers want to see if changes in heart blood flow over one year are linked to changes in how far they can walk in six minutes. Participants will have two he…

This study looks at people with autoinflammatory diseases or AA amyloidosis who have genetic changes that are hard to interpret. Researchers want to understand if these changes actually cause the disease. The goal is to improve diagnosis and knowledge, not to test a new treatment…