Familial hypertrophic cardiomyopathy

This study tests whether pelvic floor muscle training (PFMT) with a handheld biofeedback device can improve erectile function and sexual quality of life in men with functional hypogonadism (low testosterone) and erectile dysfunction. Participants are randomly assigned to PFMT wit…

This early-stage trial tests amlodipine, a calcium channel blocker used for high blood pressure, in 20 adults with myotonic dystrophy type 1. The goal is to see if the drug is safe and can improve muscle strength, reduce stiffness, and help with daily function. All participants w…

This study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…

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 100 adults with myotonic dystrophy (types 1 or 2) for two years to understand how muscle stiffness, daily function, and heart health change over time. Researchers will look back at up to 18 months of past medical records and then track participants with clinic …

This study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders a…

This study looks at why people with Noonan syndrome often bleed easily, especially from the skin, mouth, or nose. Researchers will compare a simple questionnaire about bleeding history with blood tests in 100 patients. The goal is to find better ways to predict serious bleeding, …