Familial amyloid neuropathy

This study tests whether the drug tafamidis can safely stop the progression of ATTR amyloidosis in people who have already received a heart transplant. About 25 stable patients will take tafamidis daily for 12 months. Researchers will measure changes in blood protein levels, nerv…

This study is for people with a rare heart condition called ATTR amyloidosis with cardiomyopathy, where abnormal protein builds up in the heart. It tests the long-term safety and effectiveness of a drug called vutrisiran, given as an injection every three months. About 700 adults…

This study tests a drug called vutrisiran in 655 adults with a rare heart condition caused by abnormal protein buildup (ATTR amyloidosis with cardiomyopathy). The drug is given as a shot every 3 months and aims to reduce deaths and heart-related hospital stays. The goal is to see…

This study looks at the long-term safety and effects of a drug called eplontersen in people with a rare inherited nerve disease called hATTR-PN. About 151 participants who completed earlier studies will receive regular injections of eplontersen. The goal is to see if the drug rem…

This study is testing a way to find cardiac amyloidosis—a rare but serious heart condition—earlier in people aged 65 and older. Researchers in Turkey will screen 800 patients at family medicine clinics using simple blood tests and medical history. The goal is to see if this appro…

This study aimed to test a computer algorithm that uses insurance claims data to identify people with ATTR amyloidosis, a rare disease that affects the heart and nerves. Researchers planned to check how well the algorithm worked by reviewing medical records. However, the study wa…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This observational study is looking at a protein called neurofilament light chain (NfL) in the blood of people who carry a gene variant for hereditary ATTR amyloidosis, both those without symptoms and those with nerve damage. Researchers want to see if NfL levels can help detect …

This study follows 20 adults with hereditary transthyretin amyloidosis (ATTRv) who have both nerve and heart involvement. They are treated with patisiran or vutrisiran for two years. Researchers use MRI scans and questionnaires to see how the drugs affect heart structure and func…