AATD News Briefs

Emphysema of the lungs, CT scan

Study Identifies Biomarkers of Emphysema in AATD and COPD

Researchers from the US and the UK have identified plasma biomarkers that are unique to and shared between alpha-1 antitrypsin deficiency (AATD) and chronic obstructive pulmonary disease (COPD). The researchers also generated a protein score that is strongly associated with emphysema in patients with these 2 conditions. Finally, they identified unique biomarkers associated with diffusion…

Treatment of AATD

Augmentation Therapy Reduces Exacerbations in Case of AATD With Bronchiectasis

Researchers have reported a case in which a patient’s exacerbations of alpha-1 antitrypsin deficiency were successfully reduced with the use of augmentation therapy. The case report, published in Respiratory Medicine Case Reports, noted that the patient also had bronchiectasis and suggested that clinicians should consider AATD as a possible cause of this condition. “Whilst there…

DNA variants

Two Rare Pathogenic AAT Variants Described in New Study

Two rare pathogenic M-like alpha-1 antitrypsin (AAT) variants that increase the risk of developing lung and liver diseases have been described in detail in a new study published in the International Journal of Molecular Sciences. “The accurate diagnosis of these variants can help the diagnostic process and clinical management, especially in patients with established lung…

experimental AATD therapies

Keratin 8-Containing Complexes Could Be Attractive Therapeutic Targets in AATD

A multinational team of researchers identified keratin 8 (K8) as a negative regulator of misfolded Z-alpha-1 antitrypsin (Z-AAT) secretory trafficking and proposed a new potential therapeutic strategy for alpha-1 antitrypsin deficiency (AATD). “Our therapeutical strategy, based on modulation of K8-regulated early [endoplasmic reticulum-associated protein degradation (ERAD)] complexes with chemical compounds opens new perspectives for [AATD]…

woman coughing

Patients With AATD May Not Recognize Symptom Changes as Exacerbations

A new study has found that patients with alpha-1 antitrypsin deficiency (AATD) may not identify changes in their pulmonary symptoms as exacerbations. The study, published in Chronic Obstructive Pulmonary Diseases, notes that the identification of exacerbations in AATD is critical because they are associated with disease progression and reduced quality of life. “Symptom-based definitions of…

smoking cigarette

Cigarette Smoke Exposure Stimulates Proinflammatory Macrophages in AATD

A new study has found that cigarette smoke exposure activates a proinflammatory phenotype of alpha-1 antitrypsin deficiency (AATD) macrophages. The study, published in Respiratory Research, also found that extracellular vesicles induced by cigarette smoke release higher levels of the mutant Z variant of alpha-1 antitrypsin (ATT), known as ZAAT, which could exacerbate lung disease in…

microtiter plate

Biomarkers of Liver Stiffness Investigated in Pediatric Cholestatic Liver Diseases

A number of serum biomarkers were investigated for their ability to predict liver stiffness in pediatric cholestatic liver diseases including alpha-1 antitrypsin deficiency (AATD), Alagille syndrome (ALGS), and biliary atresia (BA). According to a study published in Hepatology, connective tissue growth factor (CTGF) was negatively correlated with liver stiffness measurements (R =-.38; P =.01) in…

liver disease

Biomarkers Can Differentiate Mitochondrial Hepatopathies From Other Liver Diseases

Researchers have identified important protein biomarkers that are useful in discerning mitochondrial hepatopathies from other liver diseases, such as Alagille syndrome, according to an abstract presented at the 2022 Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium: Genetics Meets Environment. “Mitochondrial hepatopathies are primary mitochondrial genetic disorders that present as acute…

pharmacist with prescriptions

Pharmacokinetics and Biochemical Efficacies Comparable Between 3 AATD Therapies

The pharmacokinetics (PKs) and biochemical efficacy are comparable for 3 alpha-1 proteinase inhibitor (A1PI) augmentation therapies for the treatment of alpha-1 antitrypsin deficiency (AATD). The results of retrospective analyses of 3 previous clinical trials published in Pulmonary Therapy showed that the 3 A1PI augmentation therapies, Aralast® NP, Aralast™, and Prolastin®, have comparable biochemical efficacies and…

Intravenous therapy

Long-Term Treatment of AATD With Alpha-1 MP Appears Safe

Treatment with alpha-1 proteinase inhibitor, modified process (Alpha-1 MP) appears to be safe and well tolerated in the long term in patients with alpha-1 antitrypsin deficiency (AATD), according to an article recently published in Respiratory Investigation. “This study demonstrated that long-term weekly infusions of Alpha-1 MP were generally safe and well-tolerated in Japanese patients with…

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