ReviewOrphanet journal of rare diseases2018
Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
Review in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 4 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Alpha 1 antitrypsin augmentation therapy for alpha 1 antitrypsin deficiency-associated lung disease.The Cochrane database of systematic reviews · 2026Pooled it
- Applications of Artificial Intelligence in Alpha-1 Antitrypsin Deficiency: A Systematic Review from a Respiratory Medicine Perspective.Medicina (Kaunas, Lithuania) · 2025Pooled it
- Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews.European respiratory review : an official journal of the European Respiratory Society · 2022Pooled it
- Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand.Respirology (Carlton, Vic.) · 2020Guideline
- Plasma extracellular vesicle proteomic analysis identifies WARS as a potential biomarker of infectious mononucleosis.BMC infectious diseases · 2026Article
- Optimising pulmonary rehabilitation for αERJ open research · 2026Article
- Alpha-1 antitrypsin deficiency and cardiovascular disease: a review.Respiratory research · 2026Review
- Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease.Annals of medicine and surgery (2012) · 2025Review
- Pulmonary Emphysema: Current Understanding of Disease Pathogenesis and Therapeutic Approaches.Biomedicines · 2025Review
- Altered polyadenylation site usage in SERPINA1 3'UTR in response to cellular stress affects A1AT protein expression.Scientific reports · 2025Article
- Clinical Utility of Non-Invasive Tests for Liver Fibrosis in People Living With Alpha-1 Antitrypsin Deficiency.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Identifying potential biomarkers in the hippocampus of chronic fatigue syndrome rats treated with moxibustion at Zusanli (ST36): a proteomics study.Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan · 2025Article
- Can Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency?International journal of molecular sciences · 2025Review
- Review
- Impact of Hypoxia on Neutrophil Degranulation and Inflammatory Response in Alpha-1 Antitrypsin Deficiency Patients.Antioxidants (Basel, Switzerland) · 2024Article
- Review
- Global respiratory health priorities at the beginning of the 21st century.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Review
- Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint.European respiratory review : an official journal of the European Respiratory Society · 2023Article
- Impact of Coronavirus Disease 2019 and Vaccination Attitudes on Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundAlpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved.
methodsIn this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research.
results1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed.
conclusions2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.