Alpha 1-antitrypsin deficiency

This Phase 1 trial tested WVE-006, an RNA editing drug, in 47 healthy volunteers to see if it is safe and how the body processes it. The study is the first step toward a possible treatment for Alpha-1 antitrypsin deficiency, a genetic condition that can cause lung and liver disea…

This study tested a new way to give Alpha-1 protein therapy by injecting it under the skin instead of into a vein. Seventeen adults with Alpha-1 Antitrypsin Deficiency received either a low or high dose weekly for eight weeks. The main goal was to check safety and how the drug mo…

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 Phase 2 study tested a drug called fazirsiran in 40 adults with Alpha-1 antitrypsin deficiency, a genetic condition that can cause liver disease. The drug is designed to lower levels of a harmful protein (Z-AAT) in the blood. Researchers measured safety and how much the prot…

This study tested a drug called fazirsiran in 16 people with alpha-1 antitrypsin deficiency, a genetic condition that can cause liver damage. The drug aims to reduce harmful protein buildup in the liver. Researchers measured changes in liver protein levels and safety over 24 to 4…

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 looked at whether giving a low dose of a muscle relaxant (rocuronium) during bronchoscopy—a procedure where a tube is inserted into the lungs—could reduce complications like throat spasms and coughing. 153 adults having elective bronchoscopy were split into two groups:…

This study tested a simple, home-based breathing technique called the Active Cycle of Breathing Technique (ACBT) with augmented reality support in 50 adults with Alpha-1 antitrypsin deficiency. Participants did the breathing exercises twice daily and walked at least 5000 steps pe…

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 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 early-stage study tested the safety and how the body processes a new drug called ARO-AAT in 45 healthy adults. The goal was to see if the drug is safe and to measure its levels in the blood. This research is a first step toward a possible treatment for Alpha-1 Antitrypsin De…

This study looks at genetic differences in children with alpha-1 antitrypsin deficiency, a rare inherited condition that can cause liver disease. Researchers will compare gene patterns between children who develop liver problems and those who do not, using blood samples from abou…

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…