Plasma protein metabolism disease

This study tests whether weekly infusions of Alpha-1 MP (a protein replacement) can slow lung damage in 345 people with emphysema caused by Alpha-1 antitrypsin deficiency. Participants receive one of two doses or a placebo for three years, with lung CT scans tracking changes. The…

This study looks at the long-term safety of a weekly intravenous treatment for people with emphysema caused by alpha-1 antitrypsin deficiency. About 290 adults who completed a prior study will receive the drug for 2 more years. The main goal is to monitor side effects, not to cur…

This early-stage trial tests a single oral dose of BMN 349 in 6 adults with a genetic form of alpha-1 antitrypsin deficiency (PiZZ or PiMZ/MASH). The main goal is to check safety and how the drug moves through the body. Participants receive either BMN 349 or a placebo and are clo…

This early-phase trial tests an experimental drug called WVE-006 in 24 people with a severe form of alpha-1 antitrypsin deficiency (Pi*ZZ). The drug is designed to edit RNA to help the body produce a working version of the protective protein. The main goal is to check safety, but…

This study tests a new drug called SAR447537 (INBRX-101) in 185 adults with alpha-1 antitrypsin deficiency (AATD) emphysema, a genetic condition that causes lung damage. The drug is a lab-made protein designed to replace the missing enzyme and slow disease progression. The main g…

This study aimed to test an experimental drug called ARC-AAT in people with Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can cause liver and lung damage. The drug was designed to reduce harmful protein buildup in the liver. However, the trial was withdrawn befo…

This study checks the long-term safety of a drug called fazirsiran in people with liver disease caused by alpha-1 antitrypsin deficiency. About 31 adults who were in earlier studies can keep getting the drug every 3 months. The goal is to see if fazirsiran is safe over time and i…

This early-phase study is testing a single dose of a new drug called YOLT-202 in 18 adults with Alpha-1 antitrypsin deficiency (AATD), a genetic condition that can damage the lungs and liver. The main goal is to see if the drug is safe and to find the best dose. Participants will…

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 followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

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 study follows 120 adults with Alpha-1 Antitrypsin Deficiency, a genetic condition that can cause lung and liver problems. Researchers use liver biopsies and genetic samples over 5 years to find out who develops liver scarring or cirrhosis and why. The goal is to identify ris…

This study collects medical information and tissue samples (blood, liver, and lung) from up to 5,000 people with Alpha-1 Antitrypsin Deficiency. The samples are stored and shared with researchers to learn more about the disease. No treatment or medication is given. Anyone interes…

This study follows 286 adults with Alpha-1 Antitrypsin Deficiency, a genetic condition that can damage the lungs and liver. Researchers use CT scans and blood tests over three years to see how lung density changes. The goal is to find biological markers that could help design bet…