Hereditary amyloidosis

This study tested the drug patisiran in 10 adults with a rare condition called ATTR amyloidosis that causes nerve damage. Participants received an IV infusion every 21 days for 24 months. Researchers measured changes in nerve function, autonomic symptoms, and quality of life to s…

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 early-stage study tested a new drug called ALN-TTRSC04 in 96 healthy people to see if it is safe and how the body processes it. The drug aims to lower a harmful protein that causes transthyretin amyloidosis, a serious disease affecting nerves and the heart. Participants rece…

This early-stage trial tests NTLA-2001, a CRISPR-based gene editing therapy, in 72 adults with hereditary ATTR amyloidosis—a condition where abnormal protein builds up in nerves or the heart. The treatment aims to turn off the faulty gene to reduce protein levels. The study focus…

This study tested a new drug called vutrisiran in 164 people with a rare inherited disease that damages nerves and organs. Participants received either vutrisiran as a shot every 3 months or the standard treatment patisiran as an IV infusion every 3 weeks. The goal was to see if …

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested a new genetic screening approach to find cases of a rare inherited nerve disease called TTR-FAP in 130 patients with chronic neuropathy of unknown cause. The goal was to see how many of these patients actually have TTR-FAP, which is often missed due to varied sy…

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 whether a special PET/MR scan using a radioactive tracer called F-18 florbetapir can detect amyloid protein buildup in the nerves of people with amyloidosis. Eight adults with confirmed nerve amyloidosis or other nerve diseases took part. The goal was to see if …

This study compared different ways to detect early nerve damage in people with hereditary TTR amyloidosis, a condition that can cause progressive nerve problems. Researchers used blood tests, skin imaging, and standard nerve exams in 47 participants. The goal was to see which too…

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 tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This study tested whether adding acupuncture to standard care can slow down memory and thinking problems in people with mild Alzheimer's disease. Researchers compared real acupuncture to a fake (sham) procedure in 160 participants to see if the effects were real or just a placebo…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study followed 945 people, mostly children and young adults with severe eczema or related allergic conditions, along with their relatives. Researchers observed how these diseases progress over up to a year, using tests like allergy skin pricks, blood draws, and lun…

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study looks at whether a specific gene variant (ApoE4) is more common in people with certain brain MRI patterns that suggest cerebral amyloid angiopathy (CAA), a condition where proteins build up in brain blood vessels. Researchers will analyze genetic samples from 100 patie…

This completed study in Russia checked how many people with carpal tunnel syndrome also have a rare inherited nerve condition called hereditary transthyretin amyloidosis. Researchers reviewed medical records of 721 patients and will test some for the genetic mutation. The goal is…

This study looked at MRI scans from 72 people with two common types of small vessel disease in the brain: hypertensive arteriopathy and cerebral amyloid angiopathy. Researchers focused on tiny fluid-filled spaces in a part of the brain called the dentate nucleus. The goal was to …

This study looked at whether advanced MRI scans and a nerve test called MUNIX can detect the earliest signs of nerve damage in people who carry a gene mutation for familial amyloid neuropathy. Researchers studied 60 adults with the TTR mutation, comparing those with and without s…

This study looked at 70 people who had a brain hemorrhage (bleeding stroke) to see if a special PET scan could tell whether the bleeding was caused by amyloid buildup in blood vessels or by high blood pressure. Participants received an injection of a radioactive tracer called Flo…

This completed study looked at 200 people with cerebral amyloid angiopathy (CAA), a condition where protein builds up in brain blood vessels, raising the risk of bleeding and cognitive decline. Researchers collected clinical data, brain scans, and samples of spinal fluid and bloo…

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 study looked at the gut microbiome (the bacteria living in the digestive tract) of 44 people with mild cognitive impairment, early Alzheimer's, or healthy memory. Researchers wanted to see if lifestyle changes could alter the gut microbiome and whether those changes might be…

This study followed 170 older adults who had a type of stroke caused by cerebral amyloid angiopathy (CAA), a condition where protein builds up in brain blood vessels. Researchers wanted to see if a specific finding on MRI scans, called cortical superficial siderosis (cSS), could …

This study looked at 15 stroke patients with a condition called cerebral amyloid angiopathy (CAA), which makes blood vessels in the brain fragile and prone to bleeding. All patients received a clot-busting drug (thrombolysis) and were checked for brain bleeding 24 hours later. Re…

This study looked at brain scans from 315 people with two types of small vessel disease: cerebral amyloid angiopathy (CAA) and hypertensive arteriopathy (HA). Researchers wanted to see if the pattern of white matter changes around the brain's fluid-filled spaces could help tell t…

This study looked at 111 people with cerebral amyloid angiopathy (CAA), a condition that causes bleeding in the brain. Researchers used MRI scans to check for iron deposits in the cerebellum, a part of the brain that controls balance and coordination. The goal was to learn where …

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…