Hypertrophic cardiomyopathy

This phase 2 study tested a drug called belantamab mafodotin in 35 people with AL amyloidosis, a rare disease where abnormal proteins build up in organs. Participants had already tried other treatments without success. The goal was to see if the drug could reduce or eliminate tho…

This study tests a new, less invasive procedure called PIMSRA for children with obstructive hypertrophic cardiomyopathy, a condition where the heart muscle is too thick and blocks blood flow. The procedure uses a needle guided by ultrasound to deliver radiofrequency energy to the…

This early-phase trial tested a combination of three drugs—daratumumab, ixazomib, and dexamethasone—in 21 people with AL amyloidosis, a rare disease where abnormal protein builds up in organs. The main goal was to find the safest dose and check for side effects. Researchers also …

This study looked at 100 people with hypertrophic cardiomyopathy, a condition where the heart muscle thickens and blocks blood flow. Researchers compared different surgical techniques—removing part of the thickened heart muscle alone or combined with repairing the mitral valve—to…

This study tested a new drug called aficamten against the standard medicine metoprolol in 175 adults with a heart condition that makes the heart muscle thick and blocks blood flow. The goal was to see which drug better improves exercise ability and symptoms like shortness of brea…

This study tested giving chemotherapy before surgery to children with Wilms tumor, a rare kidney cancer. The goal was to shrink tumors so surgeons could remove less kidney tissue, helping preserve kidney function. 249 children took part, and the approach aimed to reduce the need …

This early-phase trial tested a combination of three drugs—vemurafenib, cetuximab, and irinotecan—in 47 people with advanced solid tumors that have a specific BRAF V600 mutation and could not be removed by surgery or had spread. The main goal was to find the safest dose and under…

This study looked at 222 adults with obstructive hypertrophic cardiomyopathy, a condition where the heart muscle thickens and blocks blood flow. Researchers compared those who took mavacamten (Camzyos) with those on standard therapy, measuring changes in heart function and sympto…

This study tested a new drug called AOC 1001 in 39 adults with myotonic dystrophy type 1, a genetic muscle disorder. Participants received either the drug or a placebo by IV infusion. The goal was to check safety and how the drug moves through the body. Results will help decide i…

This pilot study tested a combined bone marrow and kidney transplant from a partially matched family donor in 10 people with both a blood disorder and chronic kidney disease. The goal was to treat both conditions at once and possibly reduce the need for lifelong anti-rejection dr…

This Phase 3 trial tested a daily pill called aficamten in 282 adults with a type of thickened heart muscle that blocks blood flow and causes symptoms like shortness of breath and chest pain. Participants received either aficamten or a placebo for 24 weeks. The main goal was to s…

This study tested a new daily pill called CK-3773274 (aficamten) in 96 adults with symptomatic hypertrophic cardiomyopathy, a condition where the heart muscle is abnormally thick. The goal was to find the right dose and check safety, including effects on heart pumping strength. P…

This study looked at the long-term safety of the drug mavacamten in adults with hypertrophic cardiomyopathy, a condition where the heart muscle thickens. About 314 people who had already finished earlier studies took part. The goal was to track side effects over time, not to cure…

This early-stage trial tested a single dose of the drug PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a genetic muscle disorder. The main goal was to check safety and how the body handles the drug. The study is complete, but results are not yet available.

This study tested a drug called mavacamten in 38 Japanese adults with a condition where the heart muscle is too thick, making it hard for the heart to pump blood. The goal was to see if the drug could improve heart function and symptoms over 30 weeks. Participants took the drug a…

This study tested a drug called aficamten in 40 Chinese patients with a type of heart disease where the heart muscle is too thick and blocks blood flow. The goal was to see if the drug is safe and helps the heart work better over time. Patients who had already been in a similar s…

This early-stage trial tested an oral drug called JAB-3312 in 40 adults with advanced solid tumors (like lung, colon, or breast cancer) that had stopped responding to standard treatments. The main goals were to find a safe dose and check for side effects. Researchers also looked …

This study looked at 115 Canadian adults with obstructive hypertrophic cardiomyopathy (oHCM) who started taking mavacamten as part of routine care. Researchers reviewed patient charts to see if the drug improved heart function and symptoms. The goal was to understand how mavacamt…

This study tested whether adding daratumumab to standard chemotherapy (CyBorD) helps people newly diagnosed with AL amyloidosis, a rare disease where abnormal proteins build up in organs. About 416 adults took part. The goal was to see if the combination leads to better blood res…

This study is a follow-up to an earlier trial, testing the long-term safety and effects of a drug called AOC 1001 in adults with myotonic dystrophy type 1 (DM1), a genetic muscle disease. 37 participants who completed the first study received multiple doses of AOC 1001 by IV infu…

This study tested whether the drug trientine can reduce heart muscle thickening and improve exercise ability in people with hypertrophic cardiomyopathy (HCM), a condition where the heart muscle becomes abnormally thick. 154 adults with HCM took either trientine or a placebo for 1…

This phase 2 study tested the safety and effectiveness of tideglusib, an experimental drug, in 16 adolescents and adults with congenital or juvenile-onset myotonic dystrophy type 1. Participants received either 400 mg or 1000 mg of tideglusib daily. The study measured side effect…

This study looked at 163 patients with obstructive hypertrophic cardiomyopathy who were prescribed mavacamten at a single US hospital. Researchers collected information on symptoms, heart function, and patient characteristics from medical records. The goal was to see how the drug…

This phase II trial tested the drug isatuximab in 43 patients with AL amyloidosis that had come back or stopped responding to treatment. Isatuximab is a monoclonal antibody that may help stop abnormal protein buildup. The study measured how well the drug reduced disease markers a…

This completed Phase 3 study tested whether a radioactive tracer called [18F]Florbetaben, used in PET scans, can accurately diagnose cardiac AL amyloidosis—a condition where abnormal proteins build up in the heart. 244 adults with suspected cardiac amyloidosis received a single P…

This study tested a new MRI technique using a contrast agent called mangafodipir to measure how well heart cells take up manganese, which reflects cell function. It included 44 participants: healthy volunteers and people with heart failure with preserved ejection fraction caused …

This pilot study tested whether a radioactive tracer called F-18 florbetapir (Amyvid) can detect amyloid protein buildup in the heart using a PET scan. Researchers enrolled 23 people with known cardiac amyloidosis and a control group without the condition. The goal was to see if …

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

This phase 2 trial tested a radioactive tracer called 124I-AT-01 to see how well it can measure amyloid buildup in organs like the heart, kidneys, liver, and spleen using PET/CT scans. 33 adults with systemic amyloidosis received the tracer twice, six weeks apart. The goal was to…

This study tests whether virtual reality training can help children aged 6 to 16 with the childhood form of myotonic dystrophy type 1 (DM1) improve their ability to understand others' thoughts and emotions. Participants engage in social scenarios in a virtual environment, guided …

This phase 2 trial tested a drug called BX1514M in 38 people with hypertrophic cardiomyopathy, a genetic heart condition that can cause shortness of breath, chest pain, and dizziness. The drug aims to improve blood flow by tightening veins, which may reduce blockages in the heart…

This Phase 3 study tested the drug mavacamten in 580 adults with symptomatic non-obstructive hypertrophic cardiomyopathy, a heart muscle condition that makes it harder for the heart to pump blood. Participants received either mavacamten or a placebo. The study measured changes in…

This study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…

This study looks at people with neurofibromatosis type 1 (NF1) and their families to find out why some have more severe symptoms than others. Researchers will collect medical history, blood samples, and images to study genes and physical traits. The goal is to identify genes that…

This study tested whether a special MRI scan of the wrist can detect amyloid deposits in people with systemic amyloidosis, a condition where abnormal proteins build up in organs. Researchers enrolled 128 adults, including patients with cardiac amyloidosis and healthy volunteers. …

This study uses advanced heart imaging to understand how blood flows inside the heart in people with cardiac amyloidosis, a condition where abnormal proteins build up in heart tissue. Researchers will compare these images with those from healthy volunteers to find unique patterns…

This study looks at how inherited heart rhythm problems (like Long QT Syndrome) and heart muscle diseases (like Hypertrophic Cardiomyopathy) affect the quality of life and physical activity of children aged 6 to 18. Researchers will compare 107 children with these conditions to 1…

This study reviewed information from 683 adults with obstructive hypertrophic cardiomyopathy who took mavacamten through a support program in Canada. Researchers looked at patient characteristics and how long they stayed on the medication. The goal was to understand real-world us…

This study looked at how blood vessel function relates to heart blockage in people with a genetic heart condition called hypertrophic cardiomyopathy. Researchers measured blood flow and vessel flexibility in 40 adults. The goal was to understand the connection, not to test a trea…

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This completed study involved 250 adults with AL amyloidosis, a rare disease where abnormal proteins damage organs. Researchers analyzed patient samples and data to find biological markers that predict how well someone will respond to initial treatments. The goal is to help docto…

This study looked at 30 people newly diagnosed with cardiac AL amyloidosis, a rare disease where abnormal proteins damage the heart. Researchers used advanced MRI, echocardiogram, and PET scans to see if these images could predict survival and show how well chemotherapy works. Th…

This study looked at 537 people with myotonic dystrophy type 1 to understand their risk of serious heart rhythm problems, including sudden cardiac arrest. Researchers tracked participants for two years to see how often these events happened and what factors might predict them. Th…

This study followed 37 people with a genetic risk for hereditary ATTR amyloidosis over five years. Researchers measured levels of misfolded proteins in the blood to see if they could detect the earliest signs of the disease. The goal is to develop a way to catch the condition bef…

This pilot study enrolled 5 people with hypertrophic cardiomyopathy who needed an implantable cardioverter defibrillator (ICD) but did not require pacing. Participants were randomly assigned to receive either a subcutaneous ICD (placed under the skin) or a transvenous ICD (with l…

This study followed 30 adults with myotonic dystrophy type 1 (Steinert disease) and 30 healthy volunteers over three years to see how muscle strength and function change naturally over time. Researchers measured things like muscle power, walking ability, and nerve responses to fi…

This completed study looked at 110 people with cardiac amyloidosis, a condition where protein deposits build up in the heart. Researchers implanted a small device under the skin to continuously monitor heart rhythms for up to several years. The goal was to learn more about when a…

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

This study followed 113 adults with myotonic dystrophy (Steinert's disease) for 5 years to find out what factors lead to low breathing (hypoventilation). Researchers measured lung function, sleepiness, fatigue, and thinking skills. The goal is to better understand which patients …

This study looked at whether briefly pressing on the phrenic nerve during lung surgery could help reduce complications like air leaks. Researchers compared 55 patients who had this temporary nerve compression with those who did not. They measured diaphragm activity, lung function…

This early-phase trial tested a single oral dose of HRS-1893 in 20 healthy white male volunteers to see how the body processes the drug and whether it is safe. The study is a first step toward potentially treating hypertrophic cardiomyopathy, a condition where the heart muscle th…

This study looked for Fabry disease, a rare genetic disorder, in 409 Portuguese adults with unexplained heart muscle diseases. Researchers tested patients with different types of cardiomyopathy to see how many actually had Fabry disease. The goal was to better understand how comm…

This completed study looked at 258 people with different types of cardiomyopathy (a disease of the heart muscle) to see if special imaging could predict stroke risk. Researchers used echocardiograms and MRI scans to measure blood flow in the heart and check for silent brain infar…

This completed Phase 1 study looked at how HRS-1893 tablets are processed in people with mild or moderate kidney impairment compared to healthy subjects. The goal was to understand dosing needs for patients with hypertrophic cardiomyopathy who also have kidney issues. Twenty-four…

This study investigates why people with myotonic dystrophy type 1 are 10 times more likely to develop dangerous blood clots in the legs or lungs. Researchers will compare blood samples from 130 participants—including patients with the disease, those with a history of clots, and h…