Plasma protein metabolism disease

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 study tests a new way to give Alpha1-Proteinase Inhibitor—a medicine that helps protect the lungs in people with Alpha-1 Antitrypsin Deficiency. Instead of getting it through a vein at a clinic, participants will receive it as a weekly injection under the skin. The trial wil…

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 early-stage trial tests a new gene-editing medicine called TSRA-196 in 72 adults with a severe form of alpha-1 antitrypsin deficiency (the PiZZ genotype) who have lung or liver problems. The treatment is given by IV infusion and aims to raise levels of a protective protein. …

This study tests an experimental drug called fazirsiran in 160 adults with Alpha-1 antitrypsin deficiency who have moderate to severe liver scarring. The goal is to see if fazirsiran can reduce fibrosis and slow disease progression compared to a placebo. Participants will receive…

This early-stage trial tests a new drug called AIR-001 in 54 adults with alpha-1 antitrypsin deficiency (AATD) who have a specific genetic type (PiZZ). The study aims to check safety and how the body processes the drug. Participants receive increasing doses of AIR-001 under the s…

This early-stage trial tests a new gene therapy called KLN-1010 for people with multiple myeloma that has come back or stopped responding to treatment. Instead of removing cells and engineering them in a lab, this therapy works inside the body to create special immune cells that …

This study tests a new gene-editing treatment called BEAM-302 for adults with Alpha-1 antitrypsin deficiency, a genetic condition that can cause lung and liver disease. The therapy is given as an infusion and aims to correct the faulty gene. The trial will enroll 106 people to ch…

This early-stage study tests a gene therapy for people with alpha-1 antitrypsin deficiency, a condition that can damage the lungs. The treatment is given once through a vein and aims to produce a special protein that protects the lungs. Researchers will check safety and measure p…

This study tests a medicine called fazirsiran for people with Alpha-1 antitrypsin deficiency who already have mild liver scarring. The drug works by reducing the buildup of an abnormal protein in the liver that causes damage. About 50 participants will receive either fazirsiran o…

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 tests whether inhaling alpha-1 antitrypsin (AAT) daily can slow lung function loss in people with Alpha-1 deficiency and moderate-to-severe lung disease. 220 adults will receive either the drug or a placebo for two years, then all will receive the drug for two more yea…

This study is looking at whether a genetic condition called Alpha-1 antitrypsin deficiency (AATD) is more common in people who have shortness of breath and signs of airway blockage on breathing tests. Researchers will measure AAT levels and check for related gene mutations in 734…

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 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 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 looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

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 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 follows 80 adults with PiMZ alpha-1 antitrypsin deficiency and mild-to-moderate COPD over three years. Researchers will use CT scans and blood tests to measure lung density changes and look for biomarkers that could be used in future treatment trials. No new treatment …

This study aims to learn more about alpha-1 antitrypsin deficiency, a genetic condition that can affect the lungs and liver. Researchers will enroll up to 50,000 people who are at risk due to symptoms or family history. Participants will complete questionnaires to help track heal…

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 …

This study aims to understand why some people with alpha-1 antitrypsin deficiency (AATD) get more respiratory infections. Researchers will compare immune responses to a pneumonia vaccine (PCV20) in 30 adults who carry one abnormal copy of the SERPINA1 gene. Half have had frequent…

This study from the University of Florida is looking at how two genetic lung conditions—Alpha-1 antitrypsin deficiency and cystic fibrosis—affect immune cells called macrophages. Researchers will collect blood and measure lung function in 220 adults to see how well these cells wo…

This study follows 500 adults with alpha-1 antitrypsin deficiency (AATD) for up to 5 years to see how their liver disease progresses without any special treatment. Researchers will track changes in liver scarring, symptoms, and overall health using medical records and yearly ques…

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 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…