Familial cardiomyopathy

This early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…

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

This phase 3 trial tests an experimental drug called AOC 1001 in 159 adults with myotonic dystrophy type 1, a genetic condition that causes muscle weakness and stiffness. Participants receive either the drug or a placebo by intravenous infusion. The main goal is to see if the dru…

This study tested the safety and effectiveness of eliglustat, an oral medication, in 57 children aged 2 to 17 with Gaucher disease types 1 and 3. Some children also received the standard enzyme therapy imiglucerase. Researchers measured how the drug moves through the body, side e…

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

This early-stage trial tested a new gene therapy called FLT201 in 10 adults with Gaucher disease type 1. The therapy uses a harmless virus to deliver a working copy of the gene that produces a missing enzyme. The main goal was to check safety and see if the treatment can boost en…

This early-phase study tested a new drug called ABX1100 in 46 people, including healthy volunteers and patients with late-onset Pompe disease. The main goal was to check safety and how the drug moves through the body. Researchers gave single or multiple doses to find the right am…

This study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…

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

This early-phase trial tested IC14 (atibuclimab), an antibody that targets inflammation, in one person with arrhythmogenic cardiomyopathy (ACM), a rare heart muscle disease that can cause dangerous heart rhythms. The study measured safety, blood markers of inflammation, and heart…

This phase 3 trial tested the drug patisiran in 360 people with ATTR amyloidosis with cardiomyopathy, a condition where abnormal protein builds up in the heart, making it stiff and weak. Participants received either patisiran or a placebo intravenously. The study measured how far…

This Phase 3 trial tested a gene therapy called GS010 in 98 people with Leber hereditary optic neuropathy (LHON), a genetic condition that leads to rapid vision loss. Participants received injections of the therapy or a placebo into both eyes. The study measured changes in vision…

This early-phase study tested a new gene therapy called ACTUS-101 in 7 adults with late-onset Pompe disease. The main goal was to check safety and side effects. Participants received a single intravenous dose, and researchers monitored their health over time.

This study tested an oral drug called ifetroban in 46 males aged 7 and older with Duchenne muscular dystrophy (DMD). The goal was to see if the drug is safe and can help prevent or treat heart problems, which are a leading cause of death in DMD. Participants received either ifetr…

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

This study tested the long-term safety of a combination therapy (ATB200 and AT2221) in 119 adults with late-onset Pompe disease who had completed a prior study. Participants received the drugs for an extended period, and researchers tracked side effects, walking distance, and lun…

This study followed 62 people with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes vision loss, for up to 5 years after they received a single gene therapy treatment called GS010. The goal was to see if the treatment remained safe and if any vis…

This phase 3 trial tested a single injection of GS010 gene therapy in 39 people with Leber Hereditary Optic Neuropathy (LHON) who had vision loss for 6 months or less. The treatment aims to improve vision by delivering a working copy of the ND4 gene to the eye. Results measured c…

This study tested a one-time gene therapy injection, GS010, in 37 adults with Leber Hereditary Optic Neuropathy (LHON), a genetic condition that causes rapid vision loss. Participants had vision loss for 6 to 12 months before treatment. The goal was to see if the therapy could im…

This study tested a gene therapy called GS010 in 19 adults with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes rapid vision loss. The main goal was to see if the treatment is safe and tolerable at different doses. The therapy uses a harmless vi…

This 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 small device that delivers gentle electrical currents to the heart in 70 people with severe heart failure. Participants received either the device plus standard medications or medications alone. The main goal was to see if the device improved the heart's pumpi…

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

This study tested whether a new combination of two drugs (ATB200 and AT2221) is safe for adults with Pompe disease, a rare genetic disorder that causes muscle weakness. 29 participants received the drugs through an IV and by mouth. The main goal was to check for side effects and …

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

This phase 3 trial tested a new treatment for adults with late-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. Participants received either the experimental combo (cipaglucosidase alfa plus miglustat) or the current standard therapy (alglucosidase…

This trial evaluates a new high-sensitivity blood test (Mindray hs-cTnI) for diagnosing heart attacks in people arriving at the emergency room with symptoms like chest pain. Researchers will compare the test's accuracy against an existing approved test, using blood samples taken …

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 tests whether pitolisant, a wake-promoting drug, can reduce excessive daytime sleepiness in adults aged 18 to 65 with myotonic dystrophy type 1. Participants receive either pitolisant or a placebo for a period, and researchers measure changes in sleepiness, fat…

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

This study tested whether high-dose inspiratory muscle training (IMT) using a handheld device is safe and feasible for people with late-onset Pompe disease. 34 adults with stable Pompe disease did remote breathing exercises. Researchers measured changes in respiratory strength an…

Children with growth hormone deficiency often need daily injections, which can be hard to keep up with. Researchers in Belgium and Luxembourg are asking families in the BELGROW registry to fill out a questionnaire about whether they would consider switching to long-acting growth …

This study looks at children and adolescents aged 6 to 16 with inherited arrhythmias, such as long QT syndrome, to see if a controlled exercise test on a treadmill reflects their actual heart rate and activity levels during daily life. Participants will complete a routine exercis…

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 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 investigates whether people with late-onset Pompe disease have a higher risk of severe blood vessel problems in the brain and aorta. Researchers will collect medical and genetic data from adults with Pompe disease and from those who have had a brain aneurysm or bleedin…

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

This study 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 looked at 44 people with a rare inherited eye condition called Leber Hereditary Optic Neuropathy (LHON) that causes vision loss. Researchers reviewed medical records and asked participants about their vision, health, and quality of life. The goal was to better understa…

This study looked at children aged 6 to 18 who had heart surgery before they were 3 months old. Researchers asked parents to fill out a questionnaire about their child's emotions, behavior, and social skills. The goal was to see if these children face any developmental challenges…

This study measured levels of brain chemicals related to oxidative stress and inflammation in people with type 1 Gaucher disease and healthy volunteers. Researchers gave 33 participants with Gaucher disease the antioxidant N-acetylcysteine (NAC) for about 90 days to see if it cha…

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

This study looked at whether showing health warning messages in a mobile app where people buy alcohol affects their purchasing. Over 11,700 adults in Sweden took part. One group saw rotating health warnings, while the other saw standard messages. The researchers tracked purchases…

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

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

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…

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

This study 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…