Familial amyloid neuropathy

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This Phase 3 trial tests a new drug called nucresiran in 125 people with a rare inherited condition that damages nerves (hATTR-PN). The drug is given as a shot under the skin every 6 months and aims to slow nerve damage and improve quality of life. Researchers will compare it to …

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This phase 3 trial tests a single dose of NTLA-2001, a gene-editing therapy, in 60 adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a rare genetic disease that damages nerves. Participants are randomly assigned to receive either the active treatmen…

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 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 program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study enrolls about 4,000 adults aged 60 and older with heart failure who are at high risk for ATTR amyloidosis, a rare disease that stiffens the heart. Doctors receive special training on how to spot and diagnose the condition using standard tests. The goal is to see if thi…

This study looks at whether taking a small piece of ligament during routine carpal tunnel surgery can help diagnose transthyretin amyloidosis, a serious condition that often goes unnoticed until it affects the heart. Researchers will compare this new biopsy method to the standard…

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 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 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 a device called Walkasins, worn on the lower legs, that vibrates to give sensory feedback about foot pressure. The goal is to see if using it daily for six months improves balance and walking in 200 adults aged 55+ with peripheral neuropathy. Participants will do…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

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 pilot trial is testing whether amyloidosis patients can use the MyFitnessPal smartphone app to track their daily food and supplement intake for 8 weeks. The goal is to see if this low-cost method is feasible for studying malnutrition and weight loss in this condition. Forty …

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 enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study follows up to 10 pregnant or breastfeeding individuals with transthyretin amyloidosis who have taken eplontersen, along with their infants. Researchers will track pregnancy complications, birth defects, and infant health during the first year of life. The goal is to de…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study monitors pregnancy outcomes in women who took patisiran-LNP for hereditary ATTR amyloidosis. Researchers will track birth defects, pregnancy complications, and infant health. The goal is to better understand the drug's safety during pregnancy, not to test a new treatme…

This observational study will follow 1,500 people with ATTR amyloidosis, a rare disease that damages the heart and nerves, for many years. Researchers will track how the disease progresses, how patients are treated in real-world settings, and the safety of two approved drugs, pat…

This study aims to see if a quick bedside sensory test can predict which painkiller—pregabalin, duloxetine, or a placebo—works best for people with nerve pain in their feet. About 190 adults with diabetic, chemotherapy-related, or idiopathic nerve pain will try each treatment for…

This study looks at 57 people aged 20 to 70 who carry the Val50Met gene variant linked to hereditary ATTR amyloidosis, a condition that can damage nerves and the heart. Researchers want to describe the different symptoms people experience, such as heart problems, nerve issues, or…

This study is creating a large database of 1,000 people with ATTR amyloidosis, a rare disease that causes abnormal protein buildup in organs. Researchers will collect health information over time to better understand how the disease progresses and to develop tools that help docto…

This observational study will follow 20 adults with a confirmed genetic mutation for hereditary transthyretin amyloidosis (ATTR), a rare and serious condition that causes abnormal protein buildup in organs. Researchers will conduct thorough medical exams, heart tests, and neurolo…

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 is collecting information from 4,000 adults with peripheral neuropathy (nerve damage) to better understand the condition. Researchers will combine standard tests with nerve ultrasound to see if it helps diagnose and track the disease. No new treatments are being tested…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

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 study is collecting nerve samples and biofluids from 400 people with ALS or peripheral neuropathies to find biological markers for early diagnosis and disease tracking. By analyzing individual cells, researchers hope to identify molecular changes that happen before symptoms …

This study is creating a large collection of blood, urine, and tissue samples from up to 10,000 people with amyloid diseases (like multiple myeloma). The goal is to store these samples and health data for future research to better understand these conditions. Participants do not …

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study follows 240 patients with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) to monitor the long-term safety of the drug TEGSEDI. Researchers will compare patients who have taken TEGSEDI with those who have not, focusing on side effects like low platel…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…